APGAR_Score C73437 The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. APGAR Score _ Component_of_Apgar_Score NICHD Newborn Screening Terminology Neonatal Research Network Terminology APGAR_Test C81230 A test devised by Dr. Virginia Apgar to assess the overall health of a newborn upon birth. The test is administered at one and five minutes after birth and allows for the assignation of numerical values between zero and two for specific observations regarding skin color, pulse rate, reflex irritability, muscle tone and breathing. APGAR Test _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Abdomen C12664 The portion of the body that lies between the thorax and the pelvis. Abdominal Cavity _ Abdominal_Structure NICHD Pediatric Terminology Neonatal Research Network Terminology Abdominal_Aorta_Thrombosis C98701 Formation of blood clot in the lumen of the abdominal aorta. It may lead to severe abdominal pain and ischemic necrosis of the intestine. Abdominal Aortic Thrombosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Abdominal_Pregnancy C92921 Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs. Abdominal Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Abnormal_Fetal_Attitude C92725 An abnormality in the position of the fetus during the labor and delivery process. Abnormal Fetal Attitude _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Abnormal_Pregnancy C92726 A pregnancy that is complicated and affected by an abnormal finding or disease condition in either the fetus and/or the mother. Abnormal Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Abortion C35221 Any termination of pregnancy happening before the fetus is able to sustain independent life. Abortion Finding _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Acetyl-CoA_Acyltransferase_Deficiency C61262 A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides. Signs and symptoms include behavioral changes, sleep disorders, mental developmental delays, and seizures. Sanfilippo Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Achondroplasia C34345 An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (MeSH) Achondroplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Acquired_Bilateral_Cataracts C101191 Cataracts in both eyes that result from the aging process, an injury, or as a manifestation of a systemic disorder. Acquired Bilateral Cataracts _ NICHD Pediatric Terminology Acquired_Cataract C98802 Cataract that results from the aging process, an injury, or as a manifestation of a systemic disorder. Acquired Cataract _ NICHD Pediatric Terminology Neonatal Research Network Terminology Acquired_Chylothorax C98804 Chylothorax that results from malignancies (usually lymphoma), trauma to the thoracic duct, tuberculosis, or sarcoidosis. Acquired Chylothorax _ NICHD Pediatric Terminology Neonatal Research Network Terminology Acquired_Coagulation_Factor_Deficiency C34347 Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease. Acquired Coagulation Factor Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Acquired_Hydrocephalus C98803 Hydrocephalus that results from head trauma, brain tumors, intracranial hemorrhage, or meningitis. Acquired Hydrocephalus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Acquired_Methemoglobinemia C98805 Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods. Acquired Methemoglobinemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Acquired_Phrenic_Nerve_Injury C103188 Damage to the phrenic nerve that was not present at birth. Acquired Phrenic Nerve Injury _ Phrenic Nerve Injury, Acquired NICHD Pediatric Terminology Neonatal Research Network Terminology Acquired_Phrenic_Nerve_Palsy C103189 Damage to the phrenic nerve that results in paralysis of the hemidiaphragm and was not present at birth. Acquired Phrenic Nerve Palsy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Acquired_Rickets C98806 Rickets that is caused by vitamin D deficiency, hypocalcemia, or renal failure. Acquired Rickets _ NICHD Pediatric Terminology Neonatal Research Network Terminology Acquired_Secondary_Arterial_Thrombosis_due_to_Catheter_Complication C101338 The formation of a thrombus in the artery as a direct result of an activity associated with vascular access. Arterial Thrombosis due to Vascular Access Complication _ NICHD Pediatric Terminology Neonatal Research Network Terminology Acquired_Secondary_Venous_Thrombosis_due_to_Catheter_Complication C101339 The formation of a thrombus in the vein as a direct result of an activity associated with vascular access. Venous Thrombosis due to Vascular Access Complication _ NICHD Pediatric Terminology Neonatal Research Network Terminology Acquired_Unilateral_Cataract C101192 A cataract in one eye that results from the aging process, an injury, or as a manifestation of a systemic disorder. Acquired Unilateral Cataract _ Cataract, Acquired, Unilateral NICHD Pediatric Terminology Neonatal Research Network Terminology Acrocephalosyndactyly C34348 A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes. Acrocephalosyndactyly _ NICHD Pediatric Terminology Acrocephalosyndactyly_Type_I C99099 An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes. Type I Acrocephalosyndactyly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Acrocephalosyndactyly_Type_V C99100 An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes. Type V Acrocephalosyndactyly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Active_Phase_of_Labor C92943 The period during the first stage of labor and childbirth involved with cervical dilatation, effacement, and fetal station. Active Phase of Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Acute_Respiratory_Failure C27043 Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock. Acute Respiratory Failure _ NICHD Pediatric Terminology Neonatal Research Network Terminology Acute_Stress_Disorder C92621 An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month. Acute Stress Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Acute_Tubular_Necrosis C34749 Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. Acute Renal Failure with Tubular Necrosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Address C25407 A standardized representation of the location of a person, business, building, or organization. Address _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Adolescence C39298 The time period between the beginning of puberty and adulthood. Adolescence A human life stage that begins at twelve years of age and continues until twenty-one complete years of age, generally marked by the beginning of puberty and lasting to the beginning of adulthood. NICHD Pediatric Terminology Adrenal_Cortical_Hypofunction C26691 An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). Adrenal Gland Insufficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Adrenal_Hemorrhage C98808 Hemorrhage and necrosis of the adrenal gland tissue. Bilateral and extensive hemorrhage may lead to acute adrenal insufficiency, shock, and death. Adrenal Hemorrhage _ NICHD Pediatric Terminology Neonatal Research Network Terminology Agenesis_of_Corpus_Callosum C98905 A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment. Corpus Callosum Agenesis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Agenesis_of_Larynx C101279 A congenital deformity in which there is no laryngeal structure. Laryngeal Agenesis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Agoraphobia C34362 An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop. Agoraphobia _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Airway_Hemangioma C99086 A rare infantile hemangioma in the airway, usually in the subglottic area or trachea. It may or may not be associated with cutaneous lesions. It is a potentially life-threatening condition and the infant should be closely monitored for signs of airway disease. Airway Hemangioma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Albinism C84543 A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin. Albinism _ NICHD Pediatric Terminology Neonatal Research Network Terminology Alcohol_Related_Birth_Defects C92727 A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy. Alcohol Related Birth Defect _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Alcohol_Related_Neurodevelopmental_Disorder C92728 A cognitive and neurological disorder due to fetal intrauterine exposure to maternal alcohol consumption. Typically, this presents without facies or other growth abnormalities. Alcohol Related Neurodevelopmental Disorder _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Alcohol_Use_History C81229 A description of an individual's current and past experience with alcoholic beverage consumption. Alcohol Use History _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Allantoic_Cyst C85216 A cyst that develops from the remnants of the urachus. Urachal Cyst _ NICHD Pediatric Terminology Neonatal Research Network Terminology Allergen C62651 A substance that elicits an allergic reaction. Allergen _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Allergic_Reaction C3114 A local or general reaction of an organism following contact with a specific allergen to which it has been previously exposed and to which it has become sensitized. Hypersensitivity _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Alpha-1-Antitrypsin_Deficiency C84397 A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure. Alpha-1 Antitrypsin Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Alpha-fetoprotein_Measurement C74732 The determination of the amount of alpha-fetoprotein present in a sample. Alpha-fetoprotein Measurement _ Alpha-1-Fetoprotein_Measurement NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Alveolar_Capillary_Dysplasia C98809 A rare lethal congenital abnormality that refers to the abnormal development of the capillaries around the alveoli in the lung parenchyma. It manifests as respiratory distress and persistent pulmonary hypertension in infancy. Alveolar Capillary Dysplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ambiguous_Genitalia C98810 A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia. Ambiguous Genitalia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Amelia C34370 A congenital malformation characterized by the complete absence of all limbs. Amelia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Amino_Acid_Metabolism_Disorder C97090 An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. Amino Acid Metabolism Disorder _ Disorder of Amino Acid Metabolism NICHD Pediatric Terminology Neonatal Research Network Terminology Amniocentesis C52009 A prenatal diagnostic procedure in which a small sample of amniotic fluid is removed from the uterus by a needle inserted into the abdomen. This procedure is used to detect various genetic abnormalities in the fetus and/or the sex of the fetus. Amniocentesis _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Amnioinfusion C92729 The procedure of instilling saline or other fluids into the amniotic cavity using an intrauterine catheter. Amnioinfusion _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Amniotic_Band_Syndrome C84552 A rare congenital disorder which is caused by entrapment of anatomic parts of the fetus in fibrous amniotic bands during pregnancy. It may result in the formation of constriction rings around the digits and upper and lower extremities, swelling of the extremities and congenital amputations. Amniotic Band Syndrome _ Deformity due to Amniotic Band NICHD Pediatric Terminology Neonatal Research Network Terminology Amniotic_Fluid C13188 The fluid within the amniotic cavity which surrounds and protects the developing embryo. It is initially produced by the amnion and then later by the lungs and kidneys. The amount at term normally varies from 500 to 2000 ml. Amniotic Fluid _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Anasarca C98811 A condition that is characterized by the presence of generalized edema. Causes include congestive heart failure, liver failure, renal failure, and severe malnutrition. Anasarca _ NICHD Pediatric Terminology Neonatal Research Network Terminology Anatomic_Structure_or_System C12219 A human biological structure, fluid or other substance; excludes single molecular entities. Anatomic Structure, System, or Substance NICHD Pediatric Terminology NICHD Pediatric Terminology Androgen_Resistance_Syndrome C27226 A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics. Androgen Insensitivity Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Anemia C2869 A reduction in the number of red blood cells per cu mm, the amount of hemoglobin in 100 ml of blood, and the volume of packed red blood cells per 100 ml of blood. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. Anemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Anemia_due_to_Membrane_Defect C101218 A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. Hemolytic Anemia due to Membrane Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Anemia_of_Prematurity C97167 A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition. Anemia of Prematurity _ NICHD Pediatric Terminology Neonatal Research Network Terminology Anencephalus C84560 A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. Anencephaly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Anesthesia_Procedure C15181 Treatment with a pharmacological substance that produces a loss of feeling. Anesthesia Procedure _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Aneurysm C26693 Bulging or ballooning in an area of an artery secondary to arterial wall weakening. Aneurysm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Angelman_Syndrome C75462 A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene. Angelman Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Angular_Pregnancy C92730 A type of pregnancy which starts with the embryo in the interstitial section of the fallopian tube, which then grows into the uterine cavity. Angular Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Ankle_Joint C32078 A gliding joint between the distal ends of the tibia and fibula and the proximal end of the talus. Ankle Joint _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Annular_Pancreas C98813 A rare congenital abnormality in which the duodenum is surrounded by a ring of pancreatic tissue. It may result in constriction of the duodenum and feeding intolerance. Annular Pancreas _ NICHD Pediatric Terminology Neonatal Research Network Terminology Anophthalmos C98814 A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit. Anophthalmos _ NICHD Pediatric Terminology Neonatal Research Network Terminology Anorexia_Nervosa C34387 A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea. Anorexia Nervosa _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Antepartum C92731 The period of time preceding labor and delivery. Antepartum _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Anterior_Occiput C92732 A fetal position during delivery in which the head of the fetus faces the mother's back. Anterior Occiput Presentation _ Occiput Anterior NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Antithrombin_III_Deficiency C98815 A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism. Antithrombin III Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Anxiety_Disorder C2878 A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. Anxiety Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Aortic_Aneurysm C26697 A sac formation resulting from the localized dilatation of the wall of the aorta. Aortic Aneurysm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Aortic_Septal_Defect C101050 A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery. Congenital Aortic Septal Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Aortic_Valve_Disorder C78650 A heart disorder characterized by a defect in aortic valve structure or function. Aortic Valve Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Aortic_Valve_Stenosis C50462 Narrowing of the orifice of the aortic valve or of the supravalvular or subvalvular regions. Aortic Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Apgar_Score_At_10_Minutes C98817 The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at ten minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. APGAR Score at Ten Minutes _ NICHD Pediatric Terminology Neonatal Research Network Terminology Apgar_Score_At_15_Minutes C98819 The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at fifteen minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. APGAR Score at Fifteen Minutes _ NICHD Pediatric Terminology Neonatal Research Network Terminology Apgar_Score_At_1_Minute C98816 The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at one minute after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. APGAR Score at One Minute _ NICHD Pediatric Terminology Neonatal Research Network Terminology Apgar_Score_At_20_Minutes C98820 The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at twenty minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. APGAR Score at Twenty Minutes _ NICHD Pediatric Terminology Neonatal Research Network Terminology Apgar_Score_At_5_Minutes C98821 The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at five minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. APGAR Score at Five Minutes _ NICHD Pediatric Terminology Neonatal Research Network Terminology Aplasia_Cutis_Congenita C98822 Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation. Aplasia Cutis Congenita _ NICHD Pediatric Terminology Neonatal Research Network Terminology Apnea C26698 Transient cessation of respiration. Apnea _ NICHD Pediatric Terminology Neonatal Research Network Terminology Apnea_of_Prematurity C98823 The cessation of breathing in premature infants that lasts for more than 15-20 seconds. Apnea of Prematurity _ NICHD Pediatric Terminology Neonatal Research Network Terminology Appendicitis C35145 Acute inflammation of the vermiform appendix. Acute Appendicitis Appendicitis is a condition characterized by inflammation of the appendix, a small pouch attached to the beginning of the large intestine. NICHD Pediatric Terminology Neonatal Research Network Terminology Appropriate_for_Gestational_Age C92733 An assessment of the fetus or the newborn infant for growth and size that is considered within normal ranges. Appropriate for Gestational Age _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Aprosencephaly C98824 A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary. Aprosencephaly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Arachnoid_Cyst C3455 An intracranial or spinal cyst which contains fluid and is composed of arachnoid cells. Intracranial arachnoid cysts may present with headaches, seizures and hydrocephalus. Spinal arachnoid cysts may present with symptoms of radiculopathy. Arachnoid Cyst _ NICHD Pediatric Terminology Neonatal Research Network Terminology Argininosuccinate_Lyase_Deficiency C84569 A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation. Argininosuccinic Aciduria _ NICHD Pediatric Terminology Neonatal Research Network Terminology Arm C32141 The portion of the upper extremity between the shoulder and the elbow. For clinical purposes this term is also used to refer to the whole superior limb. Arm _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Arm_Recoil_Measurement C90496 A test commonly administered to assess the physiologic response to extending the arms as straight as possible alongside the body when lying down. Arm Recoil _ NICHD Pediatric Terminology Neonatal Research Network Terminology Arterial_Thrombosis C98826 Formation of a blood clot in the lumen of an artery. Arterial Thrombosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Arteriohepatic_Dysplasia C35139 An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation. Alagille Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Arteriovenous_Fistula_of_Pulmonary_Vessels C99029 A congenital or acquired malformation characterized by abnormal communication between the pulmonary arteries and pulmonary veins in the lungs. Pulmonary Arteriovenous Fistula _ Pulmonary Arteriovenous Malformation NICHD Pediatric Terminology Neonatal Research Network Terminology Arteriovenous_Hemangioma C4297 A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures. Arteriovenous Hemangioma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Arteriovenous_Malformation_of_Liver C35611 An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the liver. Hepatic Arteriovenous Malformation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Arthrogryposis C84572 A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth. Arthrogryposis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Artificial_Insemination C16739 Introduction of sperm into the female reproductive tract by artificial means in order to achieve fertilization. Artificial Insemination _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Artificial_Rupture_of_Membrane C92734 An external intervention during labor and delivery to break the bag of membranes or the amniotic sac to facilitate childbirth. Artificial Rupture of Membrane _ AROM NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Ascites C2885 Accumulation of fluid in the peritoneal cavity. The fluid may be serous, hemorrhagic, or the result of tumor metastasis to the peritoneum. Ascites _ NICHD Pediatric Terminology Neonatal Research Network Terminology Asperger_Syndrome C97159 A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism. Asperger Syndrome _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Assessment_of_Fetal_Attitude C92735 A method to find the position of the fetal head in the uterine cavity in its descent during labor. Assessment of Fetal Attitude _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Assessment_of_Fetal_Condition C92920 A method to determine health status of fetus; it includes prenatal diagnostic methods and obstetrical management. Assessment of Fetal Condition _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Assessment_of_Fetal_Heart_Condition C92736 The monitoring of the fetal heart to determine the cardiac status and health of the fetus during pregnancy and labor. Assessment of Fetal Heart Condition _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Assessment_of_Fetal_Presentation C92737 A series of maneuvers to determine the position and presenting part of the fetus with respect to the maternal pelvic canal in preparation for labor and the birth process. Assessment of Fetal Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Assisted_Labor C92738 An intervention during the childbirth process to help the laboring mother deliver her baby. Assisted Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Ataxic_Cerebral_Palsy C97168 The least common subtype of cerebral palsy, in which the individual displays hypotonia, a loss of motor coordination, and an intention tremor. Individuals with ataxic cerebral palsy walk very unsteadily, with a wide-based gait. Ataxic Cerebral Palsy _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Athetoid_Cerebral_Palsy C97169 A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating. Athetoid Cerebral Palsy _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Atresia_of_Large_Intestine C98827 A malformation characterized by the absence of a normal opening in a part of the large intestine. Large Intestine Atresia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Atresia_of_Small_Intestine C98828 A malformation characterized by the absence of a normal opening in a part of the small intestine. Small Intestine Atresia NICHD Pediatric Terminology Atrial_Fibrillation C50466 An arrhythmia characterized by uncoordinated atrial myocardium activation due to multiple reentry circuits with consequent deterioration of atrial mechanical function. Instead of intermittently contracting, the atria quiver continuously in a chaotic pattern, causing a totally irregular, often tachycardia ventricular rate. On the ECG it is described by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape, and timing, associated with an irregular, frequently rapid ventricular response when atrioventricular conduction is intact. Atrial Fibrillation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Atrial_Flutter C51224 An arrhythmia characterized by organized rhythmic contraction of the atria which is generally at a rate of 200-300 beats per minute. Atrial Flutter is characterized by a sawtooth pattern of regular atrial activation called flutter waves on the electrocardiogram, particularly visible in leads II, III, aVF and v1. Atrial Flutter _ NICHD Pediatric Terminology Neonatal Research Network Terminology Atrial_Septal_Defect C84473 The presence of a defect (opening) in the septum that separates the two atria of the heart. The ASD can be congenital or acquired. Atrial Septal Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Attending_Health_Care_Provider C81231 The individual assigned to be the primary care manager overseeing a patient's medical care during an episode of hospitalization. Attending Health Care Provider _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Attention_Deficit_Hyperactivity_Disorder C97160 A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). At least some of the symptoms must be present before the age of 7 years. Attention Deficit Hyperactivity Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Attenuated_Live_Bacterial_Vaccine C62761 Any vaccine created by reducing the virulence of bacteria but still keeping the bacteria viable (live). In the production of an attenuated vaccine, the infectious agent is altered so that it becomes harmless or less virulent. This is in contrast to those vaccines produced by "killing" the pathogen (inactivated vaccine). Attenuated Bacteria Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Attenuated_Live_Vaccine C97116 Any vaccine created by reducing the virulence of the infectious agent but still keeping the agent viable (live). In the production of an attenuated vaccine, the infectious agent is altered so that it becomes harmless or less virulent. This is in contrast to those vaccines produced by killing the pathogen (inactivated vaccine). Attenuated Live Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Attenuated_Live_Virus_Vaccine C1920 Live vaccines prepared from microorganisms which have undergone physical adaptation (e.g., by radiation or temperature conditioning) or serial passage in laboratory animal hosts or infected tissue/cell cultures, in order to produce avirulent mutant strains capable of inducing protective immunity. Live-attenuated vaccines are used when a CD8+ T Cell (cellular cytotoxicity) response is desired. Attenuated Live Virus Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Audiometric_Test C38036 Testing conducted utilizing a manual or microprocessor audiometer to test for hearing loss. Audiometric Test _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Auscultation C85573 Listening with a device, such as a stethoscope, to anatomical locations that produce audible sounds like the heart, lungs and abdomen. Auscultation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Autism C97161 A disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. Developmental delays in social interaction and language surface prior to age 3 years. Autism _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Autism_Spectrum_Disorder C88412 A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors. Autism Spectrum Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Autoimmune_Disease C2889 A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). Autoimmune Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Autosomal_Dominant_Hereditary_Disorder C98829 An inherited disorder that manifests when one copy of a mutated gene is present. Autosomal Dominant Inherited Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Autosomal_Recessive_Hereditary_Disorder C85866 An inherited disorder manifested only when two copies of a mutated gene are present. Autosomal Recessive Inherited Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Back_Labor C92739 A type of labor where the labor pain or discomfort is felt by the pregnant mother in her back. Back Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Bacteria C14187 Unicellular, prokaryotic organisms that reproduce by cell division and usually have cell walls; can be shaped like spheres, rods or spirals and can be found in virtually any environment. Bacteria NICHD Pediatric Terminology Bacterial_Disease C2890 An acute infectious disorder caused by gram positive or gram negative bacteria. Representative examples include pneumococcal , streptococcal, salmonella and meningeal infections. Bacterial Infection _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Bacterial_Vaginosis_Screen C92740 A test done during pregnancy for the presence of Gardnerella vaginalis, Ureaplasma urealyticum, Mycoplasma hominis, Mobiluncus, Prevotella and anaerobic bacteria. Bacterial Vaginosis Screening _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Band_of_Ladd C98830 The presence of peritoneal attachments (bands) that obstruct the duodenum. The attachments result from malrotation of the large intestine. This abnormality is manifested with severe vomiting soon after birth or after the first feeding of the infant. Ladd Band _ NICHD Pediatric Terminology Neonatal Research Network Terminology Barlow_s_Maneuver C89512 Useful in assessing for developmental dysplasia of the hip, this test is performed when the thigh is pushed posteriorly and the hip is adducted. Should the hip become dislocated by this movement, the result is considered positive. Barlow's Maneuver _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Baseline_Fetal_Heart_Rate C92741 The number of fetal cardiac beats per minute, considered as the reference value against which measurements in the future can be made. Baseline Fetal Heart Rate _ NICHD Pediatric Terminology Neonatal Research Network Terminology Basilar_Rales C61454 Abnormal breath sounds (crackles) heard on auscultation only in the bases of the lungs. They indicate inflammation, fluid, or infection in the air sacs of the lung. Basilar Rales _ Basal_Crepitations NICHD Newborn Screening Terminology Neonatal Research Network Terminology Bayley_Scale_of_Infant_Development_II C99149 The second edition of the Bayley Scales of Infant Development, a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. Bayley Scale of Infant Development II _ NICHD Pediatric Terminology Neonatal Research Network Terminology Bayley_Scale_of_Infant_Development_III C99150 The third edition of the Bayley Scales of Infant Development, a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. Bayley Scale of Infant Development III _ NICHD Pediatric Terminology Neonatal Research Network Terminology Bayley_Scales_of_Infant_Development C81232 A standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. Bayley Scale of Infant Development _ Bayley_Scale_of_Infant_Development NICHD Newborn Screening Terminology Neonatal Research Network Terminology Beat_to_Beat_Variability C92781 A fetal heart monitor finding where there is a change in the beats per minute from one fetal heart beat to the next. Fetal Heart Beat to Beat Variability _ Fetal Heart Rate Variability NICHD Pediatric Terminology Neonatal Research Network Terminology Beckwith-Wiedemann_Syndrome C34415 A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas. Beckwith-Wiedemann Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Behavior C16326 The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli. Behavior _ NICHD Pediatric Terminology Behavioral_Assessment C81234 Assessment of individual responses to age appropriate stimuli. Behavioral Assessment _ NICHD Pediatric Terminology Neonatal Research Network Terminology Behavioral_Development C81233 The evolution of actions, including reactions and responses to the environment, over an individual's lifespan. Behavioral Development _ NICHD Pediatric Terminology Neonatal Research Network Terminology Behavioral_Disorder C35470 A specific behavioral problem that occurs in persistent patterns and characteristic clusters and that causes clinically significant impairment. Behavior-Related Disorder _ Behavior_Finding NICHD Neurological Development Terminology Neonatal Research Network Terminology Behavioral_Rating_Scale C81235 A range of values designed to quantify the qualitative responses of an individual to a set of challenges. Behavioral Rating Scale _ Behavior_Rating_Scale NICHD Newborn Screening Terminology Neonatal Research Network Terminology Benign_Congenital_Hypotonia C98840 Mild hypotonia that usually appears early in infancy and has a favorable outcome. It is not a manifestation of another disorder that may cause hypotonia (e.g., cerebral palsy or muscular dystrophy). Benign Congenital Hypotonia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Beta-Ketothiolase_Deficiency C98841 A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma. Beta-Ketothiolase Deficiency _ BKT NICHD Pediatric Terminology Neonatal Research Network Terminology Bilateral_Anophthalmos C101187 A rare congenital abnormality characterized by the complete absence of ocular tissue in both orbits. Bilateral Anophthalmos _ Anophthalmos, Bilateral NICHD Pediatric Terminology Neonatal Research Network Terminology Bilateral_Cataracts C101193 Partial or complete opacity of the crystalline lens of both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) Bilateral Cataracts _ NICHD Pediatric Terminology Neonatal Research Network Terminology Bilateral_Hypoplasia_of_the_Optic_Nerve C101268 A congenital abnormality characterized by the underdevelopment of both optic nerves. Bilateral Optic Nerve Hypoplasia _ Hypoplasia of the Optic Nerve, Bilateral NICHD Pediatric Terminology Neonatal Research Network Terminology Bilateral_Microphthalmos C101189 A congenital abnormality characterized by the presence of two abnormally small eye globes. Bilateral Microphthalmos _ Microphthalmos, Bilateral NICHD Pediatric Terminology Neonatal Research Network Terminology Bilateral_Renal_Agenesis C101219 A congenital abnormality characterized by the absence of both kidneys. Bilateral Renal Agenesis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Bilateral_Renal_Dysplasia C101313 A finding of congenital malformations in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. Bilateral Renal Dysplasia Bilateral renal dysplasia is a congenital malformation in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. NICHD Pediatric Terminology Neonatal Research Network Terminology Bilirubin C305 A dark orange, yellow pigment that is the product of the breakdown of iron in the blood; it is conjugated in the liver and excreted in the bile. Bilirubin _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Binge_Eating_Disorder C97162 A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control and a sense of disgust and shame; unlike bulimia, however, there is no attempt to compensate for the binge-eating through vomiting or fasting. Binge Eating Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Biologic_Agent C307 Biotechnology-derived pharmaceutical agents made from living organisms or their products. Includes recombinant proteins, monoclonal antibodies, and nucleic acids. Biological Agent NICHD Pediatric Terminology Biological_Substance C13236 Material produced by living organisms; it can be a necessary constituent of, or product of an organismal process. Body Fluid or Substance _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Biotin-Propionyl-CoA-Carboxylase_Ligase_Deficiency C98842 A rare autosomal recessive inherited disorder caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms appear early in life and include breathing difficulties, feeding difficulties, alopecia, skin rash, and lethargy. Lifelong administration of biotin supplements is required. If it is not treated properly, it may lead to developmental delays, seizures, and coma. Holocarboxylase Synthetase Deficiency _ Neonatal Multiple Carboxylase Deficiency NICHD Pediatric Terminology Neonatal Research Network Terminology Biotinidase_Deficiency C84598 A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia. Biotinidase Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Bipolar_Disorder C34423 A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. Bipolar Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Birth C25155 The event of being born. Birth _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Birth_Complication C81236 The development of a problematic medical situation that occurs concurrently with the birth of a neonate. Birth Complication _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Birth_Date C68615 The calendar date on which a person was born. Birth Date _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Birth_Facility C81237 The facility which provides a setting with provisions for monitoring and delivering babies. Birth Facility _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Birth_Time C81296 The hour, minute, and/or second at which birth occurs. Birth Time _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Birth_Trauma_of_Fetus C101035 An injury sustained to a neonate during the birthing process. Neonatal Birth Trauma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Birth_Weight C76325 In humans, the weight of a neonate measured within one hour after birth. The factors influencing the birth weight include but not limited to infant sex, racial and ethnic group, maternal size and health status, concurrent diseases, parity, and nutrition, pregnancy environment and conditions, e.g. altitude of geographic area. Birth Weight _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Bladder_Fistula C79849 An abnormal communication between the urinary bladder and another organ or anatomic site. Vesical Fistula _ NICHD Pediatric Terminology Neonatal Research Network Terminology Blindness C97109 The lack of vision. It is caused by neurological or physiological factors. Blindness _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Blood_Cell_Count C28133 The determination of the number of red blood cells, white blood cells, and platelets in a blood sample. Blood Cell Count _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Blood_Coagulation_Disorder_due_to_Liver_Disease C101333 A disorder of blood clotting that is attributable to a deficiency in liver function. Coagulation Disorder due to Liver Dysfunction _ NICHD Pediatric Terminology Neonatal Research Network Terminology Blood_Glucose_Measurement C92744 A quantitative measurement for assessing the amount of glucose present in a blood sample. Blood Glucose Measurement _ Glucose_Measurement_Blood NICHD Pregnancy and Childbirth Terminology Blood_Group_Antibody_Titer_Measurement C98843 A diagnostic test to classify the blood type of an individual. It is determined based on the presence or absence of certain antigens on the red blood cells surface. Blood Type Determination _ NICHD Pediatric Terminology Neonatal Research Network Terminology Blood_Pressure C54706 The pressure of the circulating blood against the walls of the blood vessels. Blood Pressure _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Blood_Product C81304 Any natural or synthetic composition that replicates the structure or function of a native component of blood. Blood Product _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Blood_Test C47868 The determination of the measured concentrations of chemical constituents of the blood by assay in a clinical laboratory. Blood Chemistry Measurement _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Blood_Test_for_Protein_Level C92745 A quantitative measurement for assessing the amount of protein present in a blood sample. Blood Protein Measurement _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Blood_Transfusion C15192 The injection of whole blood or a blood component directly into the bloodstream. Blood Transfusion _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Blood_Type C61009 The specific reaction pattern of erythrocytes of an individual to the antisera of one blood group; e.g., the ABO blood group consists of four major blood types: O, A, B, and AB. This classification depends on the presence or absence of two major antigens: A or B. Type O occurs when neither is present and type AB when both are present. The blood type is the genetic phenotype of the individual for one blood group system and may be determined using different antisera available for testing. Blood Type _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Blood_Vessel_Thrombosis C26891 Formation of a blood clot in the lumen of a vessel. Causes include coagulation disorders and vascular endothelial injury. Thrombosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Body_Part C32221 Any part of an organism. Body Part _ Body_Structure NICHD Newborn Screening Terminology Neonatal Research Network Terminology Body_Weight C81328 The weight of a subject. Body Weight _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Bordetella_pertussis C76205 A species of bacteria within the phylum Proteobacteria consisting of gram-negative aerobic coccobacillus that are the causative agent of pertussis. Bordetella pertussis _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Bottle_Feeding C81305 Provision of liquid nutrition via a closed container system with a rubber like mouthpiece resembling a nipple. Bottle Feeding _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Brachial_Plexus_Injury C103231 Damage to the nerves in the brachial plexus network. These nerves originate in the spinal column and innervate the shoulder, arm and hand. Often, damage is sustained from overstretching or motor vehicle accidents. Brachial Plexus Injury _ NICHD Pediatric Terminology Neonatal Research Network Terminology Brachial_Plexus_Palsy_due_to_Birth_Trauma C102990 Birth injury to the brachial plexus. It results in paralysis of the muscles of the shoulder, arm, and hand. It manifests as lack of mobility in the arm, usually in the first week of life. In the majority of cases there is spontaneous recovery. Brachial Plexus Palsy due to Birth Trauma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Bradley_Method C92742 A method of birth coaching in assisting the mother by her partner, to relieve her distress during labor and delivery by applying relaxation techniques and encouraging abdominal breathing. Birth Partner Coached Method of Delivery _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Brain_Development_Abnormality C96412 A group of congenital or acquired disorders that affect the normal development of the brain. Brain Developmental Abnormality _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Brain_Disorder C96413 A non-neoplastic or neoplastic disorder that affects the brain. Brain Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Branch_Pulmonary_Artery_Stenosis_not_Peripheral_Pulmonary_Stenosis C99144 Narrowing of the lumen of the right or left pulmonary artery branch. Branch Pulmonary Artery Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Brazelton_Neonatal_Behavioral_Assessment_Scale C81238 An assessment tool created by Dr. T. Berry Brazelton and his colleagues to assist caregivers in determining developmental strengths and weaknesses in infants from birth to the age of two months. Brazelton Neonatal Behavioral Assessment Scale _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Breast_Engorgement C92746 A painful swelling of the breasts due to accumulation of milk in blocked lactating ducts. Breast Engorgement _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Breast_Feeding C25596 The nursing of an infant at the mother's breast. Breast Feeding _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Breast_Milk C13257 Milk produced by female mammals for the purpose of feeding their young. Breast Milk _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Breast_Soreness C92855 The tenderness of the breasts during pregnancy due to changes in the hormonal levels and increased breast tissue growth. Pregnancy Breast Soreness _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Breathing_Effort_Score C81306 A component of the APGAR score, it is the numerical value assigned to the assessment of breathing effort by a neonate. 0 = no spontaneous respirations; 1 = slow or irregular respirations or a weak cry; 2 = strong, consistent respirations with a robust cry. Breathing Effort Score _ NICHD Pediatric Terminology Neonatal Research Network Terminology Breech_Presentation C34438 A type of fetal presentation when the baby descends into the birth canal with hips, buttocks or its foot first during delivery. Breech Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Bronchomalacia C98847 A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing. Bronchomalacia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Bronchopulmonary_Dysplasia C90599 A non-neoplastic lung disorder which develops in premature neonates who have been treated with oxygen and mechanical ventilation. Bronchopulmonary Dysplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Bulging_Perineum C92747 The protrusion in the perineal area during the second stage of labor. It is the characteristic sign of impending birth and is caused by increased pressure in the region. Bulging Perineum _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Bulimia_Nervosa C34440 A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image. Bulimia _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Butyryl-CoA_Dehydrogenase_Deficiency C98863 A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-CoA dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma. 2-Methylbutyryl-CoA Dehydrogenase Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Caesarean_Hysterectomy C92753 Surgical removal of uterus as a concurrent procedure after a cesarean delivery. Cesarean Hysterectomy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Caesarian_Section C46088 The delivery of an infant through a surgical abdominal incision. Surgery is performed when there may be complications associated with a vaginal birth and increased risk to the mother or fetus. Caesarian Section _ C-Section NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Cafe_Au_Lait_Spot C40460 A light brown, sharply demarcated skin patch. It is a manifestation of neurofibromatosis type 1 and McCune-Albright syndrome. Cafe Au Lait Patch _ NICHD Pediatric Terminology Neonatal Research Network Terminology Camptomelic_Dysplasia C84609 A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects. Campomelic Dysplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Caput_Succedaneum C87067 A diffuse swelling of the scalp in a newborn, usually caused by the trauma of the scalp pushing through a narrowed cervix during birth. The swelling may extend across the midline of the scalp and may exhibit discoloration or bruising. Caput Succedaneum _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Carbamoyl_Phosphate_Synthetase_Deficiency C84612 A congenital disorder caused by mutations in the CPS1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability. Carbamoyl-Phosphate Synthetase I Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Carbohydrate-Deficient_Glycoprotein_Syndrome C84615 An autosomal recessive disorder of carbohydrate metabolism. It is characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism. Carbohydrate-Deficient Glycoprotein Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Carbohydrate_Metabolism_Disorder C97089 An inherited or acquired disorder that affects the metabolism of the carbohydrates. Representative examples include diabetes mellitus, glycogen storage disease, mucopolysaccharidoses, and lactose intolerance. Carbohydrate Metabolism Disorder _ Disorder of Carbohydrate Metabolism NICHD Pediatric Terminology Neonatal Research Network Terminology Cardiac_Arrhythmia C2881 An electrocardiographic finding of any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart. Arrhythmia Cardiac Arrhythmias are heart-rhythm problems - they occur when the electrical impulses to the heart that coordinate heartbeats are not working properly, making the heart beat too fast/slow or inconsistently. NICHD Pediatric Terminology Cardiac_Compression_during_Initial_Resuscitation C103157 An emergency measure on newborns, which requires assistance to begin breathing at birth. Initial resuscitation includes administration of positive-pressure ventilation and chest compressions to empty the ventricles of the heart in an effort to circulate the blood, and also to stimulate the heart so that it will resume its pumping action. Cardiac Compression during Initial Resuscitation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cardiac_Conduction_Disorder C78245 A disorder affecting the conduction system that sends electrical signals in the myocardium. Heart Conduction Disorder _ Disorder of Cardiac Conduction NICHD Pediatric Terminology Neonatal Research Network Terminology Cardiac_Monitoring C98935 The act of observing and recording the heart rate for determining the baseline values and any variations or other abnormal tracings. Heart Monitoring _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cardiac_Resuscitation C102971 Measures performed to restore cardiac function. Cardiac Resuscitation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cardiac_Septal_Defects C84482 A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. Congenital Septal Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cardiomyopathy C34830 A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. Cardiomyopathy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cardiovascular_Disorder C2931 A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. Cardiovascular Disorder _ Disorder of Cardiovascular System NICHD Pediatric Terminology Neonatal Research Network Terminology Cardiovascular_Finding C35552 Symptoms, physical examination results, and/or laboratory test results related to the cardiovascular system. Cardiovascular System Finding _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cardiovascular_System_Structure C25762 A term that refers to individual anatomic parts of the heart or the vessels. Cardiovascular System Part _ NICHD Pediatric Terminology Neonatal Research Network Terminology Carnitine_Deficiency C98864 An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting. Primary Carnitine Deficiency _ Renal Carnitine Transport Defect NICHD Pediatric Terminology Neonatal Research Network Terminology Carnitine_Palmitoyltransferase_I_Deficiency C98871 A rare autosomal recessive inherited disorder caused by mutations in the CPT1A gene. It is characterized by the presence of defective carnitine palmitoyltransferase 1A which is involved in fatty acid oxidation. Signs and symptoms may be exacerbated during fasting and include hypoketotic hypoglycemia, increased levels of carnitine in the blood, hepatomegaly, seizures, and coma. Carnitine Palmitoyltransferase I Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Carpenter__s_Syndrome C98873 An extremely rare autosomal recessive inherited syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation. Type II Acrocephalopolysyndactyly _ Acrocephalopolysyndactyly Type II NICHD Pediatric Terminology Neonatal Research Network Terminology Cataract C26713 Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) Cataract _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cause_of_Death C81239 The circumstance or condition that results in the death of a living being. Cause of Death _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Cellular_Telephone_Number C81240 The sequence of numbers or characters, that when dialed, connects to a particular cellular telephone. Cellular Telephone Number _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Cellulitis C26715 A bacterial infection that affects and spreads in the skin and soft tissues. Signs and symptoms include pain, tenderness and reddening in the affected area, fever, chills, and lymphadenopathy. Cellulitis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Centimeter C49668 A basic unit of length in the former CGS version of metric system, equal to one hundredth of a meter or approximately 0.393 700 787 inch. Centimeter _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Central_Auditory_Processing_Disorder C97170 A disorder characterized by impairment of the auditory processing, resulting in deficiencies in the recognition and interpretation of sounds by the brain. Causes include brain maturation delays and brain traumas or tumors. Central Auditory Processing Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Central_Hearing_Loss C34662 Hearing loss caused by a problem along the pathway from the inner ear to the auditory region of the brain or in the brain itself. Central Hearing Loss _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Central_Nervous_System_Cyst C4657 A congenital or acquired cyst that is present in the central nervous system. Central Nervous System Cyst _ NICHD Pediatric Terminology Neonatal Research Network Terminology Central_Nervous_System_Degenerative_Disease C4802 A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. Neurodegenerative Disorder _ Degenerative Disease of the Central Nervous System NICHD Pediatric Terminology Neonatal Research Network Terminology Central_Nervous_System_Depression C101271 Generalized depression of the central nervous system of an infant during the perinatal period. Perinatal Central Nervous System Depression _ NICHD Pediatric Terminology Neonatal Research Network Terminology Central_Nervous_System_Disorder C2934 A non-neoplastic or neoplastic disorder which affects the brain and/or spinal cord. Central Nervous System Disorder _ Disorder of Central Nervous System NICHD Pediatric Terminology Neonatal Research Network Terminology Central_Nervous_System_Infectious_Disease C27582 An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis. Central Nervous System Infectious Disorder _ Infectious Disease of Central Nervous System NICHD Pediatric Terminology Neonatal Research Network Terminology Central_Nervous_System_Signs_and_Symptoms C87124 Signs and symptoms associated with disturbances within the central nervous system, which includes the brain, spinal cord and meninges. Central Nervous System Signs and Symptoms _ Central_Nervous_System_CNS_Symptom NICHD Newborn Screening Terminology Neonatal Research Network Terminology Central_Nervous_System_Spongy_Degeneration C84611 A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head. Canavan Disease Spongy degeneration of central nervous system , spongy degeneration of white matter a rare hereditary form of leukodystrophy of early onset in which widespread demyelination and vacuolation of cerebral white matter gives it a spongy appearance; there is mental retardation, megalocephaly, atony of neck muscles, limb spasticity, and blindness, with death in infancy. NICHD Pediatric Terminology Neonatal Research Network Terminology Cephalhematoma C50484 A subperiosteal hemorrhage limited to the surface of one cranial bone, a usually benign condition seen in the newborn as a result of bone trauma. Fetal Cephalhematoma _ Fetal_Cephalhematoma NICHD Newborn Screening Terminology Neonatal Research Network Terminology Cephalic_Presentation C92748 A fetal position during delivery in which the head of the fetus descends into the maternal pelvis. Cephalic Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Cephalo-Pelvic_Disproportion C92749 An abnormal condition during labor when the diameter of the fetal head is larger than the maternal pelvic canal; thus it is dangerous or impossible for the fetus to progress to a vaginal method of delivery. Cephalo-Pelvic Disproportion _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Cerebral_Arterial_Aneurysm C101022 A balloon type pouch or bulge in the wall of a cerebral artery. Cerebral Arterial Aneurysm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cerebral_Arteriovenous_Malformation C2936 An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the brain. Signs and symptoms include headaches, bruit upon head examination, seizures, and bleeding. When bleeding occurs, the signs and symptoms are similar to those in stroke. Cerebral Arteriovenous Malformation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cerebral_Atrophy C98273 Atrophy of the cerebrum caused by focal or generalized neuronal loss. Cerebral Atrophy _ Cortical Atrophy NICHD Pediatric Terminology Neonatal Research Network Terminology Cerebral_Palsy C34460 A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain. Cerebral Palsy _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Cerebral_Venous_Aneurysm C101023 A balloon type pouch or bulge in the wall of a cerebral vein. Cerebral Venous Aneurysm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cerebrovascular_Accident C3390 A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. Infarction or hemorrhage may be demonstrated either directly by imaging, laboratory, or pathologic examination in patients with symptom duration less than 24 hours, or inferred by symptoms lasting greater than or equal to 24 hours (or fatal within 24 hours) that cannot be attributed to another cause. Diagnostic tests include CT scan, MRI, angiography, and EEG to locate and evaluate the extent of the hemorrhagic or ischemic damage in the brain parenchyma, coagulation studies, complete blood count, comprehensive metabolic panel, and urinalysis. Cerebrovascular Accident _ Stroke NICHD Pediatric Terminology Neonatal Research Network Terminology Cerebrovascular_Disease C2938 A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. Cerebrovascular Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cervical_Carcinoma C9039 A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. Cervical Carcinoma _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Cervical_Contraceptive_Cap C92757 A medical device with a small rubber cap that fits over the cervix to block sperm from entering the cervical os. Contraceptive Cap _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Cervical_Dilation C92750 A stretching and opening of the cervical os during childbirth in preparation for delivery of the baby; the diameter is measured in centimeters. Cervical Dilation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Cervical_Effacement C92751 A shortening and thinning of cervix due to the action of uterine contractions during active labor to allow for fetal descent. Cervical Effacement _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Cervical_Intraepithelial_Neoplasia C3782 Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade. Cervical Intraepithelial Neoplasia _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Cervical_Meningocele C101210 A congenital abnormality in the cervical region of the spine in which the meninges protrude through a defect in the spinal column. Cervical Meningocele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cervical_Myelocele C98875 Herniation of spinal cord tissue and meninges through a defect in the cervical region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. Cervical Myelocele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cervical_Myelomeningocele C101202 A congenital abnormality in the cervical region of the spine in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. Cervical Myelomeningocele _ Cervical Meningomyelocele NICHD Pediatric Terminology Neonatal Research Network Terminology Change_in_Uterine_Shape C92754 A variation in the dimensions of the uterus. Change in Uterine Shape _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Characteristic C25447 The distinguishing qualities or prominent aspect of a person, object, action, process, or substance. Characteristic _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Chiari_Malformation C84570 A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus. Arnold-Chiari Malformation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Chicken_Pox C97132 A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rush, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications. Chicken Pox Infection _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Chickenpox_Immunization C92915 The administration of a live attenuated viral vaccine to prevent herpes zoster infection. Varicella Zoster Virus Immunization _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Child C42708 A human descendant (son or daughter) of any age. Offspring _ NICHD Pediatric Terminology Child_Behavior C90346 Observed actions from individuals between 2 and 18 years of age. Behavior during Childhood _ NICHD Pediatric Terminology Child_Development_Status C43531 A general term that usually refers to named landmark events during development of an organism. Developmental Stage _ NICHD Pediatric Terminology Neonatal Research Network Terminology Child_Life_Stage C89345 The time period between the beginning of infancy and the end of adolescence. Childhood A time period that begins at the beginning of the human embryonic stage and continues until the end of adolescence. NICHD Pediatric Terminology Childhood_Depression C97163 Similar to depression in adults, childhood depression is characterized by a prolonged depressed or irritable mood accompanied by a significant loss of interest in activities, changes in appetite or sleep, decreased energy, feelings of worthlessness, and/or recurrent thoughts of death or suicide. Childhood Depression _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Childhood_Disintegrative_Disorder C97164 A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism. Childhood Disintegrative Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Childhood_Mental_Disorder C92190 A category of psychiatric disorders which includes disorders most commonly identified in infancy, childhood, or adolescence. Pediatric Psychiatric Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Childhood_Obesity C84449 Having a high amount of body fat during childhood. Pediatric Obesity _ NICHD Pediatric Terminology Childhood_Schizophrenia C35004 Schizophrenia occurring in childhood. Childhood Schizophrenia _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Childhood_Viral_Disease C96411 A viral infection that occurs during childhood. Pediatric Viral Infection _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Cholestasis C83006 Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system. Cholestasis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cholesterol_Synthesis_Disorder C34708 A disorder of lipoprotein metabolism characterized by high levels of cholesterol and triglycerides in the blood. It is caused by elevation of low density and very low density lipoproteins. Hyperlipoproteinemia Type II _ Disorder of Cholesterol Synthesis NICHD Pediatric Terminology Neonatal Research Network Terminology Chondrodysplasia_Punctata_Stippled_Epiphyses_Group C84632 A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. Chondrodysplasia Punctata _ NICHD Pediatric Terminology Neonatal Research Network Terminology Chondroectodermal_Dysplasia C84684 A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations. Ellis-Van Creveld Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Chorioamnionitis C26720 Inflammation of the fetal sac membranes. Chorioamnionitis _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Chorionic_Villus_Sampling C92755 The extraction of placenta tissue containing the chorionic villi from the maternal uterus in early pregnancy to screen for fetal genetic defects. Chorionic Villus Sampling _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Chorioretinitis C26909 An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. Uveitis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Choroiditis C35111 An inflammatory process that affects the choroid. Posterior Uveitis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Chromosome_Abnormality C2950 An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material. Cytogenetic Abnormality _ NICHD Pediatric Terminology Neonatal Research Network Terminology Chronic_Lung_Disease C98541 A non-neoplastic disorder of the lungs. Representative examples include chronic obstructive A persistent non-neoplastic disorder of the lungs. Representative examples include: chronic obstructive pulmonary disease, chronic bronchitis, emphysema, pulmonary fibrosis, pneumoconiosis, asbestosis, atelectasis, radiation induced pneumonitis, and radiation fibrosis. Chronic Lung Disorder Chronic lung disease (CLD) is a general term for long-term respiratory problems in premature babies. It is also known as bronchopulmonary dysplasia (BPD).Chronic lung disease is a condition in which damaged tissue in a newborn baby's lungs causes breathing and health problems. The lungs trap air or collapse, fill with fluid, and produce extra mucus. NICHD Pediatric Terminology Neonatal Research Network Terminology Chylothorax C79546 A milky pleural effusion resulting from accumulation of lymph fluid in the pleural cavity. Causes include malignancies (usually lymphoma), trauma to the thoracic duct, tuberculosis, sarcoidosis, and congenital causes. Chylothorax _ NICHD Pediatric Terminology Neonatal Research Network Terminology Circumcision C87068 Surgical removal of the prepuce (foreskin) of a male; the foreskin is the fold of skin covering the glans of the penis. Circumcision _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Citrullinemia C84639 A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood. Citrullinemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology City C25160 A large and densely populated urban area; a city specified in an address. City _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Cleft_Lip C87175 A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. Cleft Lip _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Cleft_Palate C87069 A congenital abnormality consisting of a fissure in the midline of the hard and/or soft palate; it is the result of the failure of the two sides of the palate to fuse during embryonic development. Cleft Palate _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Clinical_Assessment_Tool C20993 Any one of several evaluation/assessment tools used to ascertain a patient's condition or diagnosis. Research or Clinical Assessment Tool _ NICHD Pediatric Terminology Clinical_Test_Result C77140 The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. Clinical Test Result _ Evaluation_Finding NICHD Newborn Screening Terminology Neonatal Research Network Terminology Clonus C34484 A form of involuntary muscular movement characterized by alternating contractions and relaxation in rapid succession. In the context of reflex testing, the ability to elicit clonus indicates injury to the nerve tracts above the point at which the reflex was initiated. Clonus _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Clubbing_of_Fingers C34491 An abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract. Clubbing of Fingers _ Finger_Clubbing NICHD Newborn Screening Terminology Neonatal Research Network Terminology Clubfoot C84641 The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply. Clubfoot _ Talipes_Equinovarus NICHD Newborn Screening Terminology Neonatal Research Network Terminology Coagulation_Defect C2902 A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. Coagulation Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Coagulation_Factor_Deficiency_Syndrome C27215 Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding. Coagulation Factor Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Coarctation_of_Aorta C84567 Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. Aortic Coarctation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cogan-Reese_Syndrome C84644 A very rare syndrome characterized by eye abnormalities that lead to vision impairment. These abnormalities include iris atrophy, decreased corneal endothelium, iris nodules, adhesion of the iris to the lens and glaucoma. Cogan-Reese Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cognitive_Assessment C62736 The examination of the cognitive capacities or deficits of an individual through the application of tests that probe that individual's ability to perform various mental activities such as perception, learning, and reasoning. Cognitive Assessment _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Cognitive_Development C81241 The evolution of an individual's problem solving skills, memory, language development, and ability to process information about their environment. Cognitive Development _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Collection_Date C81286 The date on which the sample or data was collected. Collection Date _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Collection_Time C81287 The hour, minute, and/or second at which the sample or data was collected. Collection Time _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Coloboma_Heart_Malformation_Choanal_Atresia_Retardation_of_Growth_and_Development_Genital_Abnormalities_and_Ear_Malformations_HARGE_Association C75100 A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities. CHARGE Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Coloboma_of_Eyelid C98878 A congenital abnormality in which a part of the upper or lower eyelid tissue is missing. Coloboma of the Eyelid _ NICHD Pediatric Terminology Neonatal Research Network Terminology Coloboma_of_Iris C98879 A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris. Coloboma of the Iris _ NICHD Pediatric Terminology Neonatal Research Network Terminology Colonic_Band C101305 A pathologic fibrous band that impedes passage of intestinal contents through the colon. Colonic Band _ NICHD Pediatric Terminology Neonatal Research Network Terminology Colonic_Stenosis C78243 Narrowing of the lumen of colon. Colonic Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Colonic_Web C101315 A pathologic fibrous net that impedes passage of intestinal contents through the colon. Colonic Web _ NICHD Pediatric Terminology Neonatal Research Network Terminology Colostrum C32348 A thick, protein-rich substance secreted by the breasts during the second half of pregnancy and for a few days after birth before the breast milk comes in. It contains antibodies which serve to give the baby protection from disease and also has a laxative effect on the colon which helps to expel the plug of meconium and facilitate the establishment of normal bowel movements. Human Colostrum _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Common_Atrioventricular_Canal C101029 A congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. These abnormalities can include defects in the lower part of the atrial septum and the ventricular septum and lack of separation of the mitral and tricuspid valves. Atrioventricular Septal Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Common_Truncus_Arteriosus C98880 A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death. Persistent Truncus Arteriosus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Common_Ventricle C99542 An umbrella term used to describe several very different complex congenital heart defects that share the same problem: the heart has only one functional ventricle (anatomically right or left or indeterminate) supplying the systemic circulation. These defects include tricuspid atresia, hypoplastic left or right heart syndrome, double outlet right ventricle, double inlet left ventricle, and other forms of single ventricle defects. Common Ventricle Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Complete_Atrioventricular_Block C50501 An electrocardiographic finding of complete blockage of electrical impulse conduction from the atria to the ventricles. AV Block Third Degree _ Non-Congenital Complete Atrioventricular Block NICHD Pediatric Terminology Neonatal Research Network Terminology Complete_Atrioventricular_Canal_Defect_Balanced C101030 Atrioventricular septal defect in which the atrioventricular junction is shared evenly between the left ventricle and right ventricle. Complete Atrioventricular Canal Defect Balanced _ NICHD Pediatric Terminology Neonatal Research Network Terminology Complete_Atrioventricular_Canal_Defect_Unbalanced C101031 Atrioventricular septal defect in which there is usually a single dominant ventricle and a hypoplastic ventricle. Complete Atrioventricular Canal Defect Unbalanced _ NICHD Pediatric Terminology Neonatal Research Network Terminology Complete_Trisomy_13_Syndrome C101223 A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities. Complete Trisomy 13 Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Complete_Trisomy_18_Syndrome C101362 A constellation of symptoms that occur as a result of the presence of a complete third copy of the 18th chromosome. Characteristics include profound mental retardation and severe malformations. Individuals with this syndrome rarely live past one year. Complete Trisomy 18 Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Complete_Trisomy_21_Syndrome C101222 A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. Complete Trisomy 21 Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Complication C2959 Any disease or disorder that occurs during the course of (or because of) another disease. Complication _ NICHD Pediatric Terminology Neonatal Research Network Terminology Compound_Presentation C92756 A fetal position during delivery in which there are multiple fetal body parts that descends down the birth canal along with the main presenting part. Usually, this includes usually an extremity. Compound Fetal Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Conception C16465 Fertilization of an ovum by a spermatozoon resulting in formation of a viable zygote. Conception _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Conception_Method C92930 The process of conceiving a baby. Method of Conception _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Condom C28258 A contraceptive device consisting of a thin rubber or latex sheath worn over the penis during intercourse. Condom _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Conduct_Disorder C89329 A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period. Conduct Disorder _ NICHD Pediatric Terminology Conductive_Hearing_Loss C27645 Hearing loss caused by a problem in the outer ear or middle ear. Conductive losses usually affect all frequencies to the same degree. These losses are not usually severe. Conductive Hearing Loss _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Confusion C37928 A mental state characterized by a lack of clear and orderly thought and behavior. Confusion _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Congenital_Abnormality C2849 Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. Congenital Abnormality _ Congenital Anomalies of Fetus; Congenital Deformity; Congenital Malformation NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Abnormality_of_Lung C98882 A malformation in the lung that is present at birth. Representative examples include pulmonary hypoplasia, pulmonary agenesis, congenital lobar emphysema, and alveolar capillary dysplasia. Congenital Lung Malformation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Abnormality_of_Vena_Cava C98886 An abnormality of the superior or inferior vena cava that is present at birth. Representative examples include persistent left superior vena cava, absence of infrarenal inferior vena cava, or absence of the entire inferior vena cava. Congenital Abnormality of Vena Cava _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Abnormality_of_Visual_System C98887 A disorder of the eye that is present at birth. Representative examples include congenital cataract, congenital glaucoma, and astigmatism. Congenital Eye Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Abnormality_of_the_Circulatory_System C35729 A heart or vascular abnormality which is inborn or present at birth. Congenital Cardiovascular Abnormality _ Congenital Anomaly of Cardiovascular System NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Abnormality_of_the_Digestive_System C97171 An abnormality of the digestive system that is present at birth or detected in the neonatal period. Congenital Gastrointestinal Disorder _ NICHD Pediatric Terminology Congenital_Abnormality_of_the_Genitourinary_System C35107 An abnormality of the genitourinary system that is present at birth or detected in the neonatal period. Congenital Genitourinary Abnormality _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Congenital_Abnormality_of_the_Musculoskeletal_System C89337 An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. Congenital Musculoskeletal Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Abnormality_of_the_Nervous_System C97172 An abnormality of the nervous system that is present at birth or detected in the neonatal period. Congenital Nervous System Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Abnormality_of_the_Reproductive_System C103185 A disorder that affects the female or male reproductive system and is present at birth. Representative examples include ovarian agenesis, vaginal agenesis, and penile agenesis. Congenital Reproductive System Abnormality _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Abnormality_of_the_Respiratory_System C97173 An abnormality of the respiratory system that is present at birth or detected in the neonatal period. Congenital Respiratory System Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Abnormality_of_the_Skin C97174 A skin abnormality that is present at birth or detected in the neonatal period. Congenital Skin Disorder _ NICHD Pediatric Terminology Congenital_Abnormality_of_the_Urinary_System C98885 An abnormality of the kidney, ureter, bladder, or urethra that is present at birth. Representative examples include renal hypoplasia, renal agenesis, accessory kidney, absence of ureter, atresia of bladder neck, and atresia of urethra. Congenital Abnormality of the Urinary System _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Absence_of_Lung C99028 An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities. Pulmonary Agenesis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Absence_of_Penis C99009 An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities. Penile Agenesis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Absence_of_Trachea C35376 Congenital absence of the trachea. Tracheal Agenesis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Adrenal_Hyperplasia C34360 A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells. Congenital Adrenal Gland Hyperplasia _ Adrenogenital Disorder NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Anomaly_of_Pulmonary_Veins C98585 A rare congenital heart disorder in which all four pulmonary veins are not connected to the left atrium and drain into the systemic veins or the right atrium instead. Infants present with cyanosis, lethargy, tachypnea, respiratory infections, and poor growth. Total Anomalous Pulmonary Venous Return _ Total Anomalous Pulmonary Venous Return NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Atresia_of_Aortic_Valve C98818 A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure. Aortic Valve Atresia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Atresia_of_Colon C101024 A malformation characterized by the absence of a normal opening in a part of the colon. Colon Atresia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Atresia_of_Duodenum C101025 A malformation characterized by the absence of a normal opening in a part of the duodenum. Duodenal Atresia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Atresia_of_Ileum C101026 A malformation characterized by the absence of a normal opening in a part of the ileum. Ileal Atresia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Atresia_of_Jejunum C101027 A malformation characterized by the absence of a normal opening in a part of the jejunum. Jejunal Atresia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Atresia_of_Larynx C98972 Congenital atresia of the larynx. It is fatal unless tracheostomy is performed immediately after birth. Larynx Atresia Laryngeal atresia is a congenital failure of the laryngeal opening to develop, resulting in partial or total obstruction at or just above or below the glottis. NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Atresia_of_Mitral_Valve C98992 A congenital heart defect characterized by the complete atresia of the mitral valve. Mitral Valve Atresia A cogenital defect where the valve (mitral) which connects the two chambers on the left side of the heart (atrium and ventricle) is closed off. The blood is therefore unable to flow between the two heart chambers. NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Atresia_of_Trachea C35754 A rare, fatal congenital malformation in which the trachea is severely underdeveloped. Tracheal Atresia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Atresia_of_Tricuspid_Valve C85202 A congenital heart defect characterized by the complete lack of formation of the tricuspid valve. Cyanosis is the predominant clinical symptom. Tricuspid Atresia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Bilateral_Cataracts C101194 Cataract in both eyes that are present at birth. Congenital Bilateral Cataracts _ Cataract, Congenital, Bilateral NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Biliary_Atresia C34421 A congenital disorder characterized by blockage or absence of the intrahepatic or extrahepatic bile ducts. Biliary Atresia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Cataract C98888 Cataract that is present at birth. Congenital Cataract _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Central_Hypoventilation C98889 A disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities. Congenital Central Hypoventilation Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Cerebellar_Hypoplasia C98890 Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. Congenital Cerebellar Hypoplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Choledochal_Cyst C2943 Congenital cystic dilatation of the hepatic duct or bile duct. Choledochal Cyst _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Chylothorax C98891 Chylothorax that is present at birth. Congenital Chylothorax _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Coagulation_Defect C103172 A bleeding disorder that is diagnosed during childhood. the presenting symptom is excessive bleeding. Congenital Bleeding Disorder Congenital Bleeding Defect NICHD Pediatric Terminology Congenital_Complete_Atrioventricular_Block C99265 An electrocardiographic finding of a complete atrioventricular block that manifests during fetal life or soon after birth. It may be isolated or associated with other congenital heart defects. Isolated congenital complete atrioventricular block may be associated with maternal connective tissue disorders. Congenital Complete Atrioventricular Block _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Connective_Tissue_Disorder C97075 An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. Hereditary Connective Tissue Disorder _ Connective Tissue Hereditary Disorder NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Cystic_Adenomatoid_Malformation_of_Lung C98892 A congenital malformation that is present in the lungs of the newborn. It is characterized by a spectrum of lesions that range from single or multiple cysts to bulky overgrowth of bronchiole-like structures. Signs and symptoms include respiratory distress, recurrent pulmonary infections, dyspnea, and failure to thrive. Congenital Cystic Adenomatoid Malformation of the Lung _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Diaphragmatic_Hernia C98893 Diaphragmatic hernia that is present at birth. Congenital Diaphragmatic Hernia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Duplication_of_Esophagus C98924 A congenital abnormality characterized by the presence of a duplicated segment of the esophagus. The duplicated segment may by tubular or cystic. Esophageal Duplication _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Duplication_of_Intestine C98960 A rare congenital abnormality characterized by the presence of a duplicated segment of the intestine. The duplicated segment is cystic. Intestinal Duplication _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Facial_Nerve_Palsy C101198 Partial or complete paralysis of the facial muscles of one side of an individual's face that is present at birth. It is caused by damage to the seventh cranial nerve. Congenital Facial Nerve Palsy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_H-type_Tracheoesophageal_Fistula C98948 Congenital tracheoesophageal fistula without esophageal atresia. Congenital H-type Tracheoesophageal Fistula _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Hamartoma C40425 A hamartomatous lesion which is present at birth. Congenital Hamartoma A benign tumor-like nodule composed of an overgrowth of mature cells and tissues which is present at birth. NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Heart_Disease C95834 A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale. Congenital Heart Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Hematological_Disorder C61234 Inherited disorders involving abnormalities of red blood cell function, structure, or production. Some diseases in this group may be associated with bone marrow failure, neutropenia, and/or thrombocytopenia. Congenital Abnormalities of Erythrocyte Differentiation or Function _ NICHD Pediatric Terminology Congenital_Hemihypertrophy C88541 A finding indicating the presence of greater than normal asymmetry between the right and left sides of the body. The asymmetry may be manifested in the entire side or part of it. Hemihypertrophy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Hydrocephalus C98876 Hydrocephalus that is present at birth. Congenital Hydrocephalus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Hydronephrosis C102979 Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces that is present at birth. Congenital Hydronephrosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Hydroureter C26927 Dilatation of the ureter caused by obstruction of urine flow. Hydroureter _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Hypoplasia_of_Aortic_Arch C103266 An underdeveloped aortic arch that is present at birth. This symptom is usually found in association with other cardiac defects that characterize left heart syndrome. Congential Hypoplasia Aortic Arch _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Hypoplasia_of_Radius C99141 A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity. Radial Hypoplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Hypothyroidism C26734 A deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality. Congenital Hypothyroidism _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Ichthyosis_of_Skin C84766 A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas. Hydroa Vacciniforme _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Ileal_Stenosis C102984 Narrowing of the lumen of the ileum that is present at birth. Congenital Ileal Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Insufficiency_of_Aortic_Valve C51223 Dysfunction of the aortic valve, with incomplete valve closure resulting in valvular regurgitation. Aortic Insufficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Insufficiency_of_Pulmonary_Valve C50848 The backflow of blood from the pulmonary artery into the right ventricle, owing to insufficiency of the pulmonic semilunar valve. Pulmonary Valvular Regurgitation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Jejunal_Stenosis C102985 Narrowing of the lumen of the jejunum that is present at birth. Congenital Jejunal Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Lobar_Emphysema C98895 A rare abnormality in the lungs that is present at birth. It is characterized by hyperinflation of one or more lobes of the lungs. Signs and symptoms appear early in life and include dyspnea, wheezing, and cyanosis. Congenital Lobar Emphysema _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Lymphangioma C8373 A lymphangioma affecting several anatomic sites. Lymphangiomatosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Malformation_Syndrome C99267 A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system. Congenital Malformation Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Malformation_Syndrome_due_to_Known_Exogenous_Cause C101329 A syndrome characterized by the presence of structural malformations that are present at birth and can be attributed to an exogenous cause. Congenital Malformation Syndrome due to Known Exogenous Cause _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Malformation_of_Thumb C98897 A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities. Thumb Hypoplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Metabolic_Disorder C34816 A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. Congenital Metabolic Disorder _ Inborn_Error_of_Metabolism NICHD Newborn Screening Terminology Neonatal Research Network Terminology Congenital_Methemoglobinemia C98898 Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. Congenital Methemoglobinemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Nephrotic_Syndrome C35337 A rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and usually has a poor prognosis. Congenital Nephrotic Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Omphalocele C98997 A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac. Omphalocele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Pelvic_Kidney C99006 A congenital abnormality characterized by the failure of the kidney to ascend to its normal position and it remains in the pelvis. Pelvic Kidney _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Penoscrotal_Transposition C99010 A rare congenital abnormality characterized by the partial or complete transposition of the penis and scrotum. In cases of complete penoscrotal transposition, the scrotum is positioned anteriorly and above the penis. It may be associated with other congenital abnormalities. Penoscrotal Transposition _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Phrenic_Nerve_Injury C103156 Damage to the phrenic nerve that is present at birth. Congenital Phrenic Nerve Injury _ Phrenic Nerve Injury, Congenital NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Phrenic_Nerve_Palsy C101199 Damage to the phrenic nerve that results in paralysis of the hemidiaphragm at birth. Congenital Phrenic Nerve Palsy _ Phrenic Nerve Palsy, Congenital NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Pigmented_Melanocytic_Nevus C3944 A melanocytic nevus that is present at birth. It may present as a small macular, papular, or plaque-like lesion or as a large brown to black hairy skin lesion. Congenital Melanocytic Nevus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Posterior_Urethral_Valves C99021 A developmental abnormality characterized by the presence of an obstructing membrane in the posterior urethra of the male newborn. It results in bladder obstruction. Posterior Urethral Valves _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Postural_Scoliosis C98899 Usually mild scoliosis that disappears when the person bends forward or sideways. The spine is structurally normal. Postural Scoliosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Pulmonary_Lymphangiectasis C99034 A congenital abnormality in the lungs characterized by the presence of dilated lymphatic vessels in the interlobar, perivascular, and peribronchial areas of the lungs. Signs and symptoms appear at birth and include tachypnea, cyanosis, and respiratory distress. Congenital Pulmonary Lymphangiectasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Sequestration_of_Lung C97124 A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation. Bronchopulmonary Sequestration _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Skeletal_Dysplasia C84978 A term referring to disorders characterized by abnormalities in the development of bones and cartilage. Osteochondrodysplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Supraventricular_Tachycardia C101197 An electrocardiographic finding of a tachycardia that originates above the ventricles that is present at birth. Congenital Supraventricular Tachycardia _ Congenital SVT; Supraventricular Tachycardia (SVT), Congential NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Systemic_Disorder C97151 An inherited disorder that presents with systemic manifestations. Congenital Systemic Disorder An inherited disorder that affects in multiple tissue types or in multiple organ systemsis, or affects the body as a whole. NICHD Pediatric Terminology Congenital_Unilateral_Cataract C101195 Cataract in one eye that is present at birth. Congenital Unilateral Cataract _ Cataract, Congenital, Unilateral NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Ureterovesical_Obstruction C98901 Blockage of the opening between the ureter and the bladder resulting in the reduction or prevention of the urine flow from the ureter to the bladder. Ureterovesical Obstruction _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congenital_Ventricular_Tachycardia C101196 An electrocardiographic finding of a tachycardia that originates in the ventricles that is present at birth. Congenital Ventricular Tachycardia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Congestive_Heart_Failure C3080 Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. Congestive Heart Failure _ NICHD Pediatric Terminology Neonatal Research Network Terminology Conjoined_Twins C98903 A rare phenomenon in which the bodies of two identical twins are joined in the uterus. Approximately half of the cases are stillborn. Conjoined Twins _ NICHD Pediatric Terminology Neonatal Research Network Terminology Conjugate_Vaccine C1455 A category of vaccines created by covalently attaching an antigen from an organism to a carrier protein from the same organism to aid in the delivery of the immunogen. Conjugate Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Connective_Tissue_Disorder C26729 A congenital or acquired disorder characterized by abnormalities in one or more of the elements of the connective tissues. Connective Tissue Disorder _ Disorder of Connective Tissue NICHD Pediatric Terminology Neonatal Research Network Terminology Contraception C37932 The prevention of conception or impregnation by the use of devices or drugs or surgery. Contraception _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Contraceptive_Coil C92758 A medical device that is inserted into the uterus to prevent pregnancy. Contraceptive Coil A contraceptive device, which is shaped like a coil, and is inserted into the uterus to prevent pregnancy. Loop NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Contraceptive_Device C42734 A device designed to prevent conception through local or systemic effect, such as a barrier contraceptive, an intrauterine device, or a means of preventing ovulation (e.g., birth control pill). Contraceptive Device _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Contraceptive_Implant C92759 A drug implant that acts as a birth control device and which is inserted under the skin for drug delivery into the body. Contraceptive Implant _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Contraceptive_Patch C92760 A dermal patch that contains estrogen and progestin hormones for release and absorption through the skin and into the body to prevent pregnancy. Contraceptive Patch A a medicated adhesive patch that is placed on the skin to deliver estrogen and progestin hormones for release and absorption through the skin and into the body to prevent pregnancy. NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Contraceptive_Sponge C69055 A sponge impregnated with an antispermicidal agent; it is designed to be placed into the vaginal canal to prevent live sperm from entering the uterus. Contraceptive Sponge A contraceptive device, made of plastic, contains an antispermicidal agent, designed to be placed into the vaginal canal to prevent live sperm from entering the uterus. NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Contraction_Frequency C92905 The number of uterine contractions recorded over a period of time, usually in minutes; measured from the start of one contraction to the start of the next. Uterine Contraction Frequency _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Contraction_Intensity C92906 The duration of an uterine contraction expressed as mmHg. Uterine Contraction Intensity _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Contraction_Interval C92907 The time interval between uterine contractions during labor. Uterine Contraction Interval _ Relaxation Time between Uterine Contractions NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Contraction_Stress_Test C92908 A test done to check for the fetal well being after administering oxytocin or nipple stimulus to induce uterine contractions in the mother. An external fetal heart rate monitor is used to assess the fetal heart rate in response to the uterine contractions. Uterine Contraction Stress Test _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Contrast_Agent C390 Substances administered during imaging procedures that allows delineation of internal structures. Contrast agents appear opaque due to the difference in absorption of X-rays or other electromagnetic waves and surrounding tissue. Contrast Agent _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Copper_Metabolism_Disorder C84756 A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations. Hepatolenticular Degeneration _ Disorder of Copper Metabolism NICHD Pediatric Terminology Neonatal Research Network Terminology Cor_Pulmonale C34478 Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure. Chronic Pulmonary Heart Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cor_Triatriatum C84651 A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities. Cor Triatriatum _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cornual_Pregnancy C92761 A type of pregnancy where the embryo develops in the cornu of uterus. Cornual Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Coronary_Anomalies_includes_Aneurysm_Anomalous C101314 Any deviation from normal in the coronary vasculature. Coronary Anomaly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cranial_Cavity_Structure C12789 The bones that form the head, made up of the bones of the braincase and face. Skull _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cranial_Nerve_Disorder C26733 A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. Cranial Nerve Disorder _ Disorder of Cranial Nerve NICHD Pediatric Terminology Neonatal Research Network Terminology Craniorachischisis C98907 A rare and severe form of neural tube defect in which there are open cranial and open spinal defects at birth. Craniorachischisis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Craniosynostosis_Syndrome C84655 A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull. Craniosynostosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Crash_Caesarean_Section C92762 An emergency cesarean section that is carried out urgently in cases of fetal distress or severe maternal complication that is life threatening to either or both of them. Crash Caesarean Section _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Crouzon_Syndrome C84653 A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism. Craniofacial Dysostosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Crown_to_Rump_Length_Measurement C81242 A measurement from the high prominence of the head to the low prominence of the buttocks of a fetus or embryo during ultrasound. This measurement is useful in determining gestational age. Crown to Rump Length Measurement _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Crowning C92763 The characteristic sign of impending birth during the second stage of labor. The presenting part of the head of fetus is visible and firmly rimmed by the maternal vaginal wall. Crowning during Childbirth _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Cryptophthalmos_Syndrome C98908 A rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly. Cryptophthalmos Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cyanosis C26737 A bluish or purplish discoloration of the skin and mucous membranes resulting from a reduced amount of oxygenated hemoglobin in the blood. Cyanosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cyanotic_Body C87065 Blue- or purplish-colored body; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the body. Cyanotic Body _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Cyanotic_Limbs C87066 Blue- or purplish-colored limbs; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the limbs. Cyanotic Limbs _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Cyst C2978 A sac-like closed membranous structure that may be empty or contain fluid or amorphous material. Cyst _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cystic_Fibrosis C2975 A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. Cystic Fibrosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cystic_Fibrosis_Carrier_Screening C92764 A genetic test to determine if either parent has the trait of cystic fibrosis carrier. Cystic Fibrosis Carrier Screening _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Cystic_Fibrosis_with_Meconium_Ileus C103233 A congenital metabolic detected in the neonatal period that is characterized by the presence of a meconium ileus. The disease affects the exocrine glands andis inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. Cystic Fibrosis with Meconium Ileus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cystic_Hygroma C3724 A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. Cystic Hygroma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cystic_Periventricular_Leukomalacia C99112 Necrosis and softening of the white matter around the ventricles in the brain associated with cystic changes. Cystic Periventricular Leukomalacia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Cytochrome-C_Oxidase_Deficiency C98910 A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. Cytochrome-C Oxidase Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Dandy-Walker_Syndrome C75012 A rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. Dandy-Walker Malformation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Data_Value C49100 The information contained in a data field. It may represent a numeric quantity, a textual characterization, a date or time measurement, or some other state, depending on the nature of the attribute. Data Value _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Date C25164 The particular day, month and year an event has happened or will happen. Date _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology De_Lange_Syndrome C75016 A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. Cornelia De Lange Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Deafness C27644 An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing. Deafness _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Deceased_Sibling C81244 The historical fact that a legal or consanguineous brother or sister has died. Deceased Sibling _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Decreased_Bone_Density C98911 A laboratory finding indicating the presence of lower than normal bone mineral density. Decreased Bone Density _ NICHD Pediatric Terminology Neonatal Research Network Terminology Deficiency_of_Hydroxymethylglutaryl-CoA_Lyase C84523 A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma. HMG-CoA Lyase Deficiency _ Hydroxymethylglutaric Aciduria NICHD Pediatric Terminology Neonatal Research Network Terminology Deflexed_Attitude C92765 A position of the fetus during the labor and delivery process where the fetal back is straight, the head position is deflexed and upright on the spine. Deflexed Fetal Attitude _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Deformity C36287 An anatomic abnormality that is either present at birth or appears later in life. Congenital or Acquired Anatomic Abnormality _ NICHD Pediatric Terminology Neonatal Research Network Terminology Degenerative_Disorder C27090 A disorder characterized by the progressive loss of function and/or structure of the affected tissues. Degenerative Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Dehydration C26740 A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis. Dehydration _ NICHD Pediatric Terminology Neonatal Research Network Terminology Delivery_Procedure C81179 Description of the method by which a fetus is delivered. Birth Method of Delivery _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Delivery_of_Placenta C92766 The natural process whereby the placenta detaches from the uterus. It occurs during the third stage of childbirth and shortly after delivery of the fetus. Delivery of Placenta _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Demographics C16495 The statistical characterization of human populations or segments of human populations (e.g., characterization by age, sex, race, or income). Demographics _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Demyelinating_Disorder C34527 A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others. Demyelinating Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Denver_Development_Screening_Test C81245 A test developed at the University of Colorado Medical Center to assess the developmental status of infants and children from birth to six years of age. Denver Development Screening Test _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Depression C2982 A melancholy feeling of sadness and despair. Depression _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Dermoid_Cyst C9011 A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin. Dermoid Cyst _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Development_of_Corpus_Luteum C92923 The process by which the ovarian follicle becomes the corpus luteum. It occurs after ovulation. Development of Corpus Luteum _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Developmental_Coordination_Disorder C92561 A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition. Developmental Coordination Disorder _ Developmental Dyspraxia NICHD Pediatric Terminology NICHD Neurological Development Terminology Developmental_Disorder C89330 A disorder diagnosed in childhood that is marked by either physical or mental impairment or both, which in turn affects the child from achieving age related developmental milestones. Developmental Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Developmental_Milestones C90342 Physical or behavioral signs of maturation or skills gained by a developing child, which should be achieved by a given age that provide important information regarding the child's development. The milestones are different for each age range. Failure to achieve a particular milestone by a given age is indicative of developmental delay. Developmental Milestone _ NICHD Pediatric Terminology Device C62103 An object contrived for a specific purpose. Device NICHD Pediatric Terminology Dextro-Transposition_of_the_Great_Vessels C99096 A cyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery. Dextro-Transposition of the Great Arteries _ D-Transposition of the Great Vessels NICHD Pediatric Terminology Neonatal Research Network Terminology Dextro-Transposition_of_the_Great_Vessels_with_Intact_Ventricular_Septum C101185 A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with the notable absence of any pathologic opening between the cardiac ventricles. Dextro-Transposition of the Great Vessels with Intact Ventricular Septum _ D-Transposition of the Great Vessels with Intact Ventricular Septum NICHD Pediatric Terminology Neonatal Research Network Terminology Dextro-Transposition_of_the_Great_Vessels_with_Ventricular_Septal_Defect C101186 A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with a pathologic opening between the cardiac ventricles. Dextro-Transposition of the Great Vessels with Ventricular Septal Defect _ D-Transposition of the Great Vessels with Ventricular Septal Defect NICHD Pediatric Terminology Neonatal Research Network Terminology Dextrocardia C84669 A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects. Dextrocardia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Dextrocardia_Normal_Situs C101032 A congenital heart defect in which the heart is located in the right side and the other organs are in their normal position. Dextrocardia Situs Solitus _ NICHD Pediatric Terminology Neonatal Research Network Terminology DiGeorge_Sequence C2989 A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. DiGeorge Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Diabetes_Insipidus C43263 A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. Diabetes Insipidus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Diagnosis C15220 The investigation, analysis and recognition of the presence and nature of disease, condition, or injury from expressed signs and symptoms; also, the scientific determination of any kind; the concise results of such an investigation. Diagnosis _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Diagnostic_Procedure C18020 Methods, procedures, and tests performed to diagnose disease, disordered function, or disability. Diagnostic Procedure _ NICHD Pediatric Terminology Diaphragmatic_Eventration C98912 A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. Diaphragm Eventration _ NICHD Pediatric Terminology Neonatal Research Network Terminology Diaphragmatic_Hernia C34687 A congenital or acquired weakness or opening in the diaphragm which allows abdominal contents to protrude into the chest cavity; congenital diaphragmatic hernias are caused when the embryonic diaphragm fails to fuse. Diaphragmatic Hernia _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Diarrhea C2987 A condition of frequent and watery bowel movements. Diarrhea _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Diastematomyelia C98913 A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. Diastematomyelia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Digestive_System_Finding C36279 Symptoms, physical examination results, and/or laboratory test results related to the gastrointestinal system. Gastrointestinal System Finding _ NICHD Pediatric Terminology Neonatal Research Network Terminology Dilated_Anus C92767 A characteristic sign of impending birth where the anal opening becomes wider due to increased pressure in the perineal region during the second stage of labor. Dilated Anus _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Dilated_Cardiomyopathy C84673 Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. Dilated Cardiomyopathy _ Congestive Cardiomyopathy NICHD Pediatric Terminology Neonatal Research Network Terminology Diphtheria C34541 A Gram-positive bacterial infection caused by Corynebacterium diphtheria. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects. Diphtheria _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Discordant_Ventriculoarterial_Connection C98914 A rare congenital cardiovascular abnormality in which the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. Discordant Ventriculoarterial Connection _ NICHD Pediatric Terminology Neonatal Research Network Terminology Disease_or_Disorder C2991 Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. Disease or Disorder Disease NICHD Pediatric Terminology Neonatal Research Network Terminology Dislocation_of_Hip_Joint C34698 A congenital or traumatic abnormality in which the femoral head slips out of the acetabulum. Hip Dislocation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Disseminated_Intravascular_Coagulation C2992 A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage. Disseminated Intravascular Coagulation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Doctor_s_Information C81273 A collection of information about a patient's doctor. Doctor's Information _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Double_Kidney C98915 A congenital abnormality of the kidney characterized by the presence of two separate pelvicocaliceal systems with a single or duplex ureter. Duplex Kidney _ Double Renal Pelvis NICHD Pediatric Terminology Neonatal Research Network Terminology Double_Outlet_Right_Ventricle C98916 A rare congenital cardiovascular abnormality in which both the aorta and the pulmonary artery arise from the right ventricle. Double Outlet Right Ventricle _ NICHD Pediatric Terminology Neonatal Research Network Terminology Double_Ureter C98917 A congenital abnormality characterized by the presence of two separate ureters draining a kidney. Duplicated Ureter _ NICHD Pediatric Terminology Neonatal Research Network Terminology Down_Syndrome C2993 A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004 Down Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Drug-Induced_Immune_Thrombocytopenia C99110 Thrombocytopenia caused by ingested or injected drugs. It may be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction. Drug Induced Thrombocytopenia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Drug-Induced_Methemoglobinemia C101045 Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene). Drug Induced Methemoglobinemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Drug_Induced_Induction_of_Labor C92768 Using pharmaceutical agents to influence uterine contractions and start labor during the childbirth process. Drug Induced Induction of Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Drug_Use_History C81246 A description of an individual's current and past use and/or abuse of drugs and chemicals. This includes prescription medication, illicit drugs and recreational substances. Drug Use History _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Drug_Withdrawal C35046 A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions. Substance Withdrawal Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Drug_Withdrawal_Syndrome_in_Newborn C101321 Withdrawal signs and symptoms that present during the neonatal period and are caused by drug use by the pregnant mother. Neonatal Drug Withdrawal _ DWN NICHD Pediatric Terminology Neonatal Research Network Terminology Duncan_Mechanism C92845 The expulsion of the placenta with presentation of the maternal rough side first, rather than the usual fetal side of the placenta. Placental Duncan Mechanism _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Duodenal_Band C101275 A pathologic fibrous band that impedes passage of intestinal contents through the duodenum. Duodenal Band _ NICHD Pediatric Terminology Neonatal Research Network Terminology Duodenal_Stenosis C78260 Narrowing of the lumen of the duodenum. Duodenal Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Duodenal_Web C98918 Partial or complete obstruction of the duodenal lumen due to the presence of a membranous web. Duodenal Web _ NICHD Pediatric Terminology Neonatal Research Network Terminology Duration_of_Contraction C92769 The length of time from the beginning to the end of a single uterine contraction during the labor and childbirth process. Duration of Uterine Contraction _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Dwarfism C34554 Short stature that usually results from genetic mutations. Other causes include hormonal deficiencies and poor nutrition. Dwarfism _ NICHD Pediatric Terminology Neonatal Research Network Terminology Dyscalculia C97165 A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties. Dyscalculia _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Dyslexia C96410 A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension. Dyslexia _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Ear C12394 A sense organ needed for the detection of sound and for establishing balance. The outer ear consists of the auricle, the ear canal as well as the tympanic membrane. The middle ear is made up of an air-filled cavity behind the tympanic membrane that contains the ossicles (malleus, incus and stapes). The inner ear is made up of the cochlea needed for hearing and the vestibular apparatus required for balance. Ear _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Ear_Dimple C87071 A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention. Ear Dimple _ Ear_Pit NICHD Newborn Screening Terminology Neonatal Research Network Terminology Early_Adolescence C89331 A transitional time in an individual's life between childhood and adolescence. This phase marks the start of physical, physiological and psychological changes that characterize pubertal growth and development. Early Adolescence A human life stage that begins at twelve years of age and continues until eighteen complete years of age. This phase marks the start of physical, physiological and psychological changes that characterize pubertal growth and development. NICHD Pediatric Terminology Early_Childhood C89346 A time period in a child's life that is accepted to be approximately between 1 and 5 years of age. Early Childhood A human life stage that begins at two years of age and continues until five complete years of age. NICHD Pediatric Terminology Early_Deceleration C92770 A decrease in the fetal heart rate that occurs in the initial stages of uterine contractions. Early Fetal Heart Rate Deceleration _ Early_Fetal_Heart_Deceleration NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Early_Post-Partum_Recovery C92924 The early stages in the recuperation process of a mother after her pregnancy and delivery. Early Post-Partum Recovery _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Early_Pregnancy_Symptoms C92771 A characteristic complaint in a fertile woman that is indicative of a pregnancy. Early Pregnancy Symptom _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Eating_Disorder C89332 A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake. Eating Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Ebstein_s_Anomaly_of_Tricuspid_Valve C84681 A rare congenital heart malformation characterized by apical displacement of the opening of the tricuspid valve. The defect involves both the right ventricle and the tricuspid valve, and can lead to cardiomyopathy and tachyarrhythmias. Ebstein Anomaly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Echolalia C97166 A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song. Echolalia _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Eclampsia C87167 A potentially life-threatening disorder in pregnant or puerperal women manifested by convulsions in association with hypertension, edema, and/or proteinuria. Eclampsia _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Ectodermal_Dysplasia C84683 A group of inherited disorders characterized by malformations of the structures that derive from the ectoderm, such as hair, teeth, nails and sweat glands. Ectodermal Dysplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ectopic_Atrial_Tachycardia C99113 An electrocardiographic finding of atrial tachycardia that does not originate from the sinoatrial node. Ectopic Atrial Tachycardia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ectopic_Pregnancy C34945 An abnormal pregnancy in which the egg is implanted anywhere outside the corpus uteri. Ectopic Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Ectrodactyly C75000 A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities. Split-Hand/Foot Malformation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Edema C3002 Accumulation of an excessive amount of watery fluid in cells or intercellular tissues. Edema _ NICHD Pediatric Terminology Neonatal Research Network Terminology Education_Level C17953 An indication of the years of schooling completed in graded public, private, or parochial schools, and in colleges, universities, or professional schools. Education Level _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Ehlers-Danlos_Syndrome C34568 An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility. Ehlers-Danlos Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Elbow_Joint C32497 A type of hinge joint located between the forearm and upper arm. Elbow Joint _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Electrolyte_Disorder C27120 A metabolic disorder that is characterized by electrolyte imbalances (e.g., hyperkalemia, hypokalemia, and hypercalcemia). Electrolyte Disorder _ Disoder of Electrolytes NICHD Pediatric Terminology Neonatal Research Network Terminology Elevated_Test_Result C81326 A result of a test that is higher than a previous value or a normal range of values. Elevated Test Result _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Elliptocytosis C3004 A peripheral blood finding in which a large number of erythrocytes are shaped in an elliptical form. Elliptocytosis Elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the patient's erythrocytes (i.e. red blood cells) are elliptical rather than the typical biconcave disc shape. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to haemolytic anaemia. NICHD Pediatric Terminology Neonatal Research Network Terminology Embryo_Transfer C16541 Refers to a step in the process of in vitro fertilization (IVF) whereby one or several embryos are removed from an embryo culture and placed into the uterus of the female with the intent to establish a pregnancy. Embryo Transfer _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Embryonic_Stage C99135 A stage of life in which an embryo is developing. The stage terminates with the complete formation of the embryo. Embryonic Stage A human life stage, during prenatal development, that begins at fertilization and typically continues until the end of eight weeks after fertilization, with full formation of the embryo. NICHD Pediatric Terminology Embryonic_Structure C13229 A body part, organ or organ component that is formed during the embryonic stage of life of an organism. Embryonic Structure _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Embryonic_Structure_or_System C34144 Body tissue, region, surface, cavity, fluid, organ, or collection of organs present in, or associated with, an embryo. Embryologic Structure or System _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Emergency_Caesarean_Section C92772 A cesarean section that is unanticipated and carried out during the labor process when it is determined that a vaginal method of delivery would be risky. Emergency Caesarean Section _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Encephalocele C84687 A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used. Encephalocele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Encephalomalacia C98920 Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation. Encephalomalacia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Encephalopathy C26920 A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries. Encephalopathy _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Endemic_Cretinism C98921 Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency. Endemic Cretinism _ NICHD Pediatric Terminology Neonatal Research Network Terminology Endocardial_Fibroelastosis C98922 A rare disorder characterized by diffuse thickening of the endocardium. It presents with unexplained heart failure. Endocardial Fibroelastosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Endocrine_System_Disorder C3009 Any deviation from the normal structure or function of the endocrine system that is manifested by a characteristic set of symptoms and signs. Endocrine Disorder _ Disorder of Endocrine System NICHD Pediatric Terminology Neonatal Research Network Terminology Endometriosis C3014 The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. Endometriosis _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Enlarged_Abdomen C35435 Increasing girth of the mid section of an individual. Enlarging Abdomen _ NICHD Pediatric Terminology Neonatal Research Network Terminology Enlarged_Uterus C92773 An increase in the overall dimensions or volume of the uterus compared to normal. Enlarged Uterus _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Epidermolysis_Bullosa C67383 An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids. Epidermolysis Bullosa _ NICHD Pediatric Terminology Neonatal Research Network Terminology Epidural_Block C15642 An anesthetic procedure that involves administering pharmaceutical agents into the epidural space of the spinal canal. Frequently administered agents include local anesthetics and analgesics. Epidural Block _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Epidural_Hemorrhage C50555 Intracranial hemorrhage into the epidural space. Extradural Hemorrhage _ NICHD Pediatric Terminology Neonatal Research Network Terminology Epilepsy C3020 A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. Epilepsy _ Seizure_Disorder NICHD Neurological Development Terminology Neonatal Research Network Terminology Episiotomy C92774 A surgical widening of the introitus by cutting into the musculature of the maternal perineum with a linear midline or oblique incision so as to facilitate vaginal childbirth. Episiotomy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Epispadias C98923 A rare congenital abnormality that mostly affects males. In males, it is characterized by the presence of the urethral opening in the dorsal surface of the penis. In females, this abnormality is even rarer and is characterized by the presence of an elongated urethra that has developed too far anteriorly. Epispadias _ NICHD Pediatric Terminology Neonatal Research Network Terminology Escobar_Syndrome C101039 A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant. Escobar Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Esophageal_Atresia C87072 A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed. Esophageal Atresia _ Congenital Atresia of Esophagus NICHD Pediatric Terminology Neonatal Research Network Terminology Esophageal_Fistula C79574 An abnormal communication between the esophagus and another organ or anatomic site. Esophageal Fistula _ NICHD Pediatric Terminology Neonatal Research Network Terminology Esophageal_Varices C53506 Abnormally dilated vein(s) of the esophagus. Esophageal Varix _ NICHD Pediatric Terminology Neonatal Research Network Terminology Esophageal_Web C98925 A thin membrane that is present in the esophageal lumen. It is composed of mucosa and submucosa and it may be associated with Plummer-Vinson syndrome. Esophageal Web _ NICHD Pediatric Terminology Neonatal Research Network Terminology Esophagitis C9224 An acute or chronic inflammatory process affecting the esophageal wall. Esophagitis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ethnic_Group C16564 A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. Ethnic Group _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Evaluation_Procedure C25214 Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria. Evaluation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Excessive_Sucking C87073 A symptom of gastrointestinal dysfunction seen in neonates who have been exposed to drugs during pregnancy; often accompanied by excessive sucking of fists, fingers and thumbs. Excessive Sucking _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Excoriation C34599 A superficial traumatic injury to the skin caused most often by scratching, but also by abrasions or by a chemical or thermal burn. Excoriation _ Excoriation_of_Skin NICHD Newborn Screening Terminology Neonatal Research Network Terminology Exophthalmos C43262 A protrusion of the eyeball from the socket. Exophthalmos _ NICHD Pediatric Terminology Neonatal Research Network Terminology Expected_Date_of_Confinement C81247 The projected date of delivery for a pregnant female. Expected Date of Confinement _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Extended_Fetal_Attitude C92775 A position of the fetus during the labor and delivery process where the head is extended back. Extended Fetal Attitude _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology External_Fetal_Rotation C92776 A manual method of maneuvering the fetus from outside the mother's abdomen to convert a breech into a cephalic presentation. External Fetal Rotation _ External version NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Eye C12401 The organ of sight or vision. Eye _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Eye_prophylaxis C87074 The practice of placing antibiotic eye drops or ointment in a neonate's eyes after birth. Ophthalmic Prophylaxis _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Fabry_s_Disease C84701 A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure. Fabry Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Face_Presentation C92778 A fetal position during delivery in which the face of the fetus is first to descend into the birth canal. Face Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Facial_Nerve_Palsy_due_to_Trauma C101316 Partial or complete paralysis of the facial muscles of one side of an individual's face that is caused by trauma. Facial Nerve Palsy due to Trauma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Facial_Palsy C26769 Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. Facial Nerve Paralysis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Factor_VIII_Deficiency C27146 An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an x-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births. Hemophilia A _ Hereditary Factor VIII Deficiency Disease NICHD Pediatric Terminology Neonatal Research Network Terminology Factor_V_Leiden_Mutation C91334 Human F5 Leiden allele is a variant form of the F5 gene that is located in the vicinity of 1q23 and is approximately 75 kb in length. This allele, which encodes coagulation factor V Leiden protein, is involved in hypercoagulability due to resistance to degradation by activated protein C. F5 Leiden Allele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Failure_to_Thrive_in_Infant C85038 A clinical finding indicating less than normal growth in infancy or early childhood Failure to Thrive _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fallopian_Tube_Obstruction C78293 Blockage of the normal flow of the contents in the fallopian tube. Fallopian Tube Obstruction _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology False_Labor C92779 A relatively painless, irregular tightening sensation felt by the pregnant mother over the abdomen after the 28th week of pregnancy, that lasts about a minute each time False Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fatigue C3036 That state, following a period of mental or bodily activity, characterized by a lessened capacity for work and reduced efficiency or accomplishment, usually accompanied by a feeling of weariness, sleepiness, or irritability. Fatigue _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fatty_Acid_Metabolism_Disorder C97092 An inherited metabolic disorder that affects the metabolism of the lipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. Lipid Metabolism Disorder _ Disorder of Fatty Acid Metabolism; Lipid Storage Disease; Sphingolipidosis NICHD Pediatric Terminology Neonatal Research Network Terminology Feeding_Method C81267 A description of the technique for the manner in which a subject is administered food. Feeding Method _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Female C16576 A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. Female _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Female_Genitalia_Finding C61600 The external female sexual organs. Female Genitalia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Female_Reproductive_System_Disorder C27020 A non-neoplastic or neoplastic disorder that affects the female genital system. Representative examples of non-neoplastic disorders include infection, endometriosis, and adenomyosis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma. Female Reproductive System Disorder _ NICHD Pediatric Terminology Fertilization C16579 The process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei. Fertilization _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Alcohol_Spectrum_Disorder C92780 A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. Fetal Alcohol Spectrum Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Alcohol_Syndrome C84713 A syndrome that can develop in infants whose mothers consumed alcohol during pregnancy. Manifestations of this syndrome include low birth weight, failure to thrive, developmental defects, organ dysfunction, mental deficiencies, behavioral problems and poor motor coordination. Fetal Alcohol Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Attitude C92713 A position assumed by fetal body parts to one another (head, chest, arms and legs) in relation to the chest. Fetal Attitude _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Biophysical_Profile C92925 A clinical scoring method to monitor fetal asphyxia using four ultrasonic observations that include fetal breathing, fetal body movements, fetal tone, and amniotic fluid volume. Also included is the non-stress test derived fetal heart rate response to fetal movements. Fetal Biophysical Profile _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Bradycardia C92782 A decrease in the fetal heart rate below normal baseline values. Fetal Bradycardia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Descent C92783 The movement of the fetus led by the presenting part into the maternal pelvic cavity during active labor. Fetal Descent _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Disorder C92719 A non-neoplastic or neoplastic disorder which occurs in the fetus. Fetal Disorder _ Disorder of Fetus NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Distress C50563 Symptoms indicative of a state of duress to a fetus while in utero. Fetal Distress _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Engagement C92784 A position adopted by the fetus during labor when its head moves down into the maternal pelvic cavity. Fetal Engagement _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Examination C92714 A test or diagnostic examination to assess the health status and well being of the fetus. Fetal Examination _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Extension C92785 A change in the position of the head of the fetus as it descends through the maternal pelvic cavity during labor and delivery. Fetal Extension _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Fibronectin_Test C92786 A laboratory test to detect fetal prematurity by measuring levels of fetal fibronectin from vaginal and cervical secretions. Fetal Fibronectin Test _ Fetal_Fibronectin_Measurement NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Fetal_Finding C92711 Any intrauterine symptom or result related to the fetus. Fetal Finding _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Heart_Finding C92715 An observation of the fetal heart that may or may not be abnormal. Fetal Heart Finding _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Heart_Rate C92716 The number of fetal cardiac beats per minute. Fetal Heart Rate _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Heart_Rate_Acceleration C92788 An increase in the fetal heart rate above normal baseline values for an extended period. Fetal Heart Rate Acceleration _ Fetal_Heart_Acceleration; Fetal Heart Rate Acceleration NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Fetal_Heart_Rate_Deceleration C92789 A decrease in the fetal heart rate less than the normal baseline values. Fetal Heart Rate Deceleration _ Fetal_Heart_Deceleration NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Fetal_Heart_Rate_Monitoring C92929 The act of observing and recording the fetal heart rate for determining the baseline values and any variations or other abnormal tracings. Fetal Heart Rate Monitoring _ Fetal_Heart_Monitoring; Fetal Heart Rate Monitoring NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Fetal_Heart_Rate_Variability C92790 A fetal heart with rate changes from the normal baseline values. Fetal Heart Rate Variability _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Heart_Rhythm C98926 The recurrent, measured movements (rhythm) of a beating heart in a fetus. Fetal Heart Rhythm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Heart_Tone C92791 The sounds of the fetal heart. Fetal Heart Tone _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Heart_Tone_Location C92792 The site of fetal cardiac sounds that can be distinctly detected in relation to the maternal abdomen. Fetal Heart Tone Location _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Hydantoin_Syndrome C98927 A rare syndrome caused by exposure of the fetus to phenytoin. It manifests with growth developmental abnormalities, cleft lip, and abnormal skull and facial characteristics. Fetal Hydantoin Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Hypoxia C50564 Hypoxia in utero, caused by conditions such as inadequate placental function (often abruptio placentae), preeclamptic toxicity, prolapse of the umbilical cord, or complications from anesthetic administration. Fetal Hypoxia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Methotrexate_Syndrome C98928 A rare syndrome caused by exposure of the fetus to methotrexate. It is characterized by craniofacial, digital, and skeletal malformations. Fetal Methotrexate Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Neurodevelopmental_Disorder C103236 A fetal affliction that has a neurological basis and manifests as a developmental disability. Fetal Neurodevelopmental Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Position C92926 The position of the fetus in the uterus. Fetal Position _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Position_above_Umbilicus C92927 A reference point for the fetal position when the fetal heart rate is detected above the mother's umbilicus. Fetal Position above Umbilicus _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Position_below_Umbilicus C92928 A reference point for the fetal position when the fetal heart rate is detected below the mother's umbilicus. Fetal Position below Umbilicus _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Presentation C92724 The first part of the fetus that is visible at the cervical opening during delivery. Fetal Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Pulse_Oximetry C92794 A method to assess fetal oxygenation status during labor and delivery using a noninvasive reflectance pulse oximeter. Fetal Pulse Oximetry _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Restitution C92795 The repositioning of the fetal head attitude immediately after delivery, returning to a normal position in alignment with the rest of its body. Fetal Restitution _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Stage C89885 The period during which an embryo is a fetus until birth. Fetal Stage A human life stage, during prenatal development, that typically begins at the beginning of nine weeks after fertilization (full formation of the embryo) and continues until birth. NICHD Pediatric Terminology Fetal_Station C92717 The relationship of the presenting part of the fetus to the maternal ischial spines during labor and delivery. Fetal Station _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fetal_Tachycardia C92796 An increase in the fetal heart rate above the normal baseline values. Fetal Tachycardia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Valproate_Syndrome C98930 A rare syndrome caused by exposure of the fetus to valproic acid in the first three months of the pregnancy. It is characterized by musculoskeletal abnormalities, intellectual disability, spina bifida, and distinctive facial features. Fetal Valproate Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fetal_Warfarin_Syndrome C98906 A rare syndrome characterized by congenital abnormalities caused by fetal exposure to the administration of warfarin to the mother during pregnancy. The congenital abnormalities include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. Fetal Warfarin Syndrome _ Fetal Coumadin Syndrome NICHD Pediatric Terminology Neonatal Research Network Terminology Fetus C13235 An unborn or unhatched vertebrate in the later stages of development showing the main recognizable features of the mature being. Fetus _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Fetus_or_Newborn_Affected_by_Maternal_Transmission_of_Substance C98977 The passage of a substance or infectious agent from the mother to the fetus or newborn. Maternal Transmission _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fever C3038 The elevation of the body's temperature above the upper limit of normal, usually taken as 37.7 degrees C. Fever _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Fibrocystic_Kidney_Disease C34750 A congenital or acquired kidney disorder characterized by the presence of renal cysts. Cystic Kidney Disease _ Congenital Cystic Kidney Disease; Multicystic Kidney NICHD Pediatric Terminology Neonatal Research Network Terminology Finding C3367 Clinical, laboratory or molecular evidence, or absence of evidence of disease. Finding Clinical Finding NICHD Pediatric Terminology Neonatal Research Network Terminology Finding_during_Childbirth_Labor C92718 Symptom, signs, test results in a pregnant mother childbirth. Finding During Childbirth Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Finnegan_Score_Measurement C89343 A tool to evaluate neonatal abstinence syndrome (NAS), that measures the degree to which a neonate is experiencing symptoms of withdrawal due to maternal substance abuse. Finnegan Score Measurement _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology First_Feeding C81272 The first time that a neonate is provided nutrition. First Feeding _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology First_Movement C92797 An initial set of movements by the fetus that is observed by the pregnant mother. First Movement _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology First_Stage_of_Labor C92798 The stage of the labor and childbirth process when the uterine contractions become strong and regular with cervical effacement and complete dilation of the cervix. First Stage of Labor _ Dilating Stage NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology First_Trimester C92799 The period of gestation that ranges from the first day of the last menstrual period in a woman up to the 12th week of her pregnancy. First Trimester _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fistula_of_Intestine C34732 An abnormal communication between the small or large intestine and another organ or cavity. Intestinal Fistula _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fistula_of_Skin C98957 An abnormal communication between the skin and another organ or cavity. Cutaneous Fistula _ Skin Sinus NICHD Pediatric Terminology Neonatal Research Network Terminology Fistulous_Opening_in_Vagina C79847 An abnormal communication between the vagina and another organ or cavity. Vaginal Fistula _ NICHD Pediatric Terminology Neonatal Research Network Terminology Five_Minutes_After_Birth C81228 The actual time that is five minutes after the birth of a fetus. This period is most commonly referenced during the administration of the APGAR test. Five Minutes After Birth _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Flexed_Fetal_Attitude C92800 A position of the fetus during the labor and delivery process where the fetal chin is in close relation to its chest; other joints are also in a flexed position. This prepares the fetus to present the smallest diameter for passage through the maternal pelvis. Flexed Fetal Attitude _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Flexion C92787 A cardinal movement in labor when the head of the fetus folds towards its chest to assume the smallest anero-posterior diameter for the presenting part during delivery. Fetal Flexion _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fontanelle C32621 The four gaps in the skull of a neonate or fetus where the sutures converge. The bulging or depression of the membranous soft spots can be indicative of intracranial fluid buildup or systemic dehydration. Fontanelle _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Food_Craving C92801 An abnormal desire for eating certain foods. Food Craving _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Foot C32622 The structure found below the ankle joint required for locomotion. Foot _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Forceps_Delivery C81248 The method referring to the delivery of a fetus through the vaginal canal with assistance of obstetrical forceps. Forceps Delivery _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fourth_Stage_of_Labor C92802 A stage during labor and childbirth that starts with the delivery of the placenta and lasts about two hours after delivering the baby. Fourth Stage of Labor _ Recovery Stage NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Fracture_of_Bone C3046 A traumatic injury to the bone in which the continuity of the bone is broken. Fracture _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fracture_of_Clavicle_due_to_Birth_Trauma C102975 An injury sustained during the birthing process in which the continuity is broken in the clavicle. Fracture of the Clavicle due to Birth Trauma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fracture_of_Femur C26774 A traumatic or pathologic injury to the femur in which the continuity of the femur is broken. Femur Fracture _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fracture_of_Fibula C26938 A traumatic or pathologic injury to the femur in which the continuity of the fibula is broken. Fibula Fracture _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fracture_of_Humerus C26795 A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken. Humerus Fracture _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fracture_of_Long_Bone_due_to_Birth_Trauma C101317 An injury sustained during the birthing process in which the continuity is broken in any bone that is longer in length than width. Fracture of Long Bone due to Birth Trauma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fracture_of_Radius C99039 Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken. Radial Fracture _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fracture_of_Rib C34990 A traumatic or pathologic injury to the rib in which the continuity of the rib is broken. Rib Fracture _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fracture_of_Skull C50745 A traumatic or pathologic injury to the bones of the skull in which the continuity of the bones of the skull is broken. Skull Fracture _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fracture_of_Skull_due_to_Birth_Trauma C101318 An injury sustained during the birthing process in which the continuity is broken in the skull. Fracture of Skull due to Birth Trauma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fracture_of_Tibia C99083 Traumatic or pathological injury to the tibia in which the continuity of the bone is broken. Tibial Fracture _ NICHD Pediatric Terminology Neonatal Research Network Terminology Freeman-Sheldon_Syndrome C98931 A rare syndrome that is inherited in an autosomal dominant or recessive pattern and caused by mutations in the MYH3 gene. It is a severe form of arthrogryposis. It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently bent fingers and toes, club foot, scoliosis, and walking difficulties. Freeman Sheldon Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Frenulum C87076 A small fold of tissue that limits the movements of an organ or body part; for example, the lingual frenulum connects the tongue to the floor of the mouth and restrains its movement. Frenulum _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Fructose-1_6-Bisphosphate_Aldolase_B_Deficiency C84720 A genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure. Hereditary Fructose Intolerance _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fryns_Syndrome C98932 A rare syndrome inherited in an autosomal recessive pattern. It is characterized by the presence of diaphragmatic defects, distinctive facial features (hypertelorism, low-set ears, flat nasal bridge, and micrognathia), distal digital hypoplasia, lung hypoplasia, and brain, gastrointestinal, and cardiovascular malformations. Fryns Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fucosidosis C61274 An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances. Fucosidosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Full_Term_Neonate C89333 An infant born after completion of the normal gestational period. Full Term Neonate _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Functional_Intestinal_Obstruction C101033 The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular. Functional Bowel Obstruction _ Intestinal Obstruction, Functional NICHD Pediatric Terminology Neonatal Research Network Terminology Fundus_Coloboma C98877 An abnormality in which a part of a structure in one or both eyes is missing. Coloboma of the Eye _ NICHD Pediatric Terminology Neonatal Research Network Terminology Fused_Eyelid C87077 A congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue. Fused Eyelid _ Congenital_Ankyloblepharon NICHD Newborn Screening Terminology Neonatal Research Network Terminology G-6-PD_Variant_Enzyme_Deficiency_Anemia C98933 An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. Glucose-6-Phosphate Dehydrogenase Deficiency _ G6PD NICHD Pediatric Terminology Neonatal Research Network Terminology Galactose-1-Phosphate_Uridyltransferase_Measurement C81251 The measurement of the galactose-1-phosphate uridyltransferase in a biologic specimen. Galactose-1-Phosphate Uridyltransferase Measurement _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Galactose_Measurement C81308 The measurement of the amount of galactose in a biologic specimen. Galactose Measurement _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Galactosemia C84723 An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure. Galactosemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Galactosylceramide_Beta-Galactosidase_Deficiency C61254 A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness. Krabbe Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Galeazzi_Test C90497 An assessment for developmental dysplasia of the hip or a leg-length discrepancy, the patient is placed in a supine position and the ankles are brought to the buttocks with the hips and knees flexed. The result is considered positive when the knees are at different heights. Galeazzi Test _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Gastroenteritis C34632 An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. Gastroenteritis _ NICHD Pediatric Terminology Gastroesophageal_Reflux_Disease C26781 A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. Gastroesophageal Reflux Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Gastrointestinal_Disorder C2990 A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas. Gastrointestinal Disorder _ Digestive_System_Disorder; Disorder of Digestive System NICHD Pediatric Terminology NICHD Pediatric Terminology Gastrointestinal_Hemorrhage C48592 Bleeding originating from any part of the gastrointestinal system. Gastrointestinal Hemorrhage _ NICHD Pediatric Terminology Neonatal Research Network Terminology Gastrointestinal_Perforation C79470 A rupture in the wall of any structure of the gastrointestinal system caused by traumatic or pathologic processes. Gastrointestinal Perforation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Gastrointestinal_System_Signs_and_Symptoms C3368 Signs and symptoms associated with disturbances within the gastrointestinal system, which includes the stomach, intestines and all associated organs that aid in digestion. Gastrointestinal System Signs and Symptoms _ NICHD Pediatric Terminology Neonatal Research Network Terminology Gastroschisis C84725 A congenital birth defect characterized by the exposure of the fetal intestines outside the abdominal wall through an abdominal wall opening. Gastroschisis _ NICHD Pediatric Terminology Neonatal Research Network Terminology General_Anesthesia_Procedure C64380 Actions that render a patient unconscious for the purpose of performing a diagnostic or interventional procedure. General Anesthesia Procedure _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology General_Appearance C87079 The result of observation and overall assessment of a subject's outward aspect including appearance and movements; for example, in a human newborn general appearance includes skin color and tone, range of motion, and spontaneous movements. General Appearance _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology General_Qualifier C27993 A term that helps define and render another concept unique. General Qualifier _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Generalized_Anxiety_Disorder C92622 An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months. Generalized Anxiety Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Genetic_Disorder C3101 Genetic Diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders. Genetic Disorder _ Hereditary_Disease NICHD Pediatric Terminology Neonatal Research Network Terminology Genetic_Test C15709 The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder. Genetic Testing _ Genetic_Testing NICHD Newborn Screening Terminology Neonatal Research Network Terminology Genital_Warts C2960 A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia. Condyloma Acuminatum _ Condyloma Acuminatum NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Genitalia C25177 The external sex organs. Genitalia _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Germ_Cell_Tumor C3708 A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. Germ Cell Tumor _ NICHD Pediatric Terminology Neonatal Research Network Terminology Gesell_Developmental_Schedule C81252 A scale used as an instrument to assess a child's motor and language development, as well as personal-social and adaptive behaviors. Gesell Developmental Schedule _ NICHD Pediatric Terminology Neonatal Research Network Terminology Gestational C92804 The period of fetal development in the uterus from the start of conception until its birth. Gestational _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Gestational_Diabetes C34942 Diabetes that develops during pregnancy. It usually resolves after delivery. Gestational Diabetes Mellitus _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Gestational_Weeks_Assessment C81253 A standard determination of fetal age; it is the number of weeks since the first day of the last menstrual period of the mother to the date of interest. Gestational Weeks Assessment _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Glaucoma C26782 Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. Glaucoma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Glioma C3059 A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. Neuroglial Tumor _ NICHD Pediatric Terminology Neonatal Research Network Terminology Glucosylceramide_Beta-Glucosidase_Deficiency C61268 An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia. Gaucher Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Glutaric_Aciduria_Type_1 C99101 A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia. Glutaric Acidemia Type 1 _ NICHD Pediatric Terminology Neonatal Research Network Terminology Glutaric_Aciduria_Type_2 C99102 A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of the enzyme electron transfer flavoprotein or the enzyme electron transfer flavoprotein dehydrogenase. It results in metabolic acidosis, hypoglycemia, and behavioral changes. Additional abnormalities include brain malformations, facial malformations, dilated cardiomyopathy, and hepatomegaly. Glutaric Acidemia Type 2 _ NICHD Pediatric Terminology Neonatal Research Network Terminology Glycogen_Storage_Disease C61272 An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. Glycogen Storage Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Goiter C26785 Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. Goiter _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Goldenhar_Syndrome C84740 A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate. Goldenhar Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Gonadal_Disorder C26786 A non-neoplastic or neoplastic disorder that affects the testis or the ovary. Gonadal Disorder _ Disorder of Gonads NICHD Pediatric Terminology Neonatal Research Network Terminology Gonadal_Teratoma C98291 A teratoma that arises from the testis or ovary. Gonadal Teratoma _ Teratoma, Gonads NICHD Pediatric Terminology Neonatal Research Network Terminology Grade_1_Intraventricular_Nontraumatic_Hemorrhage_of_Fetus_and_Newborn C99138 Intraventricular hemorrhage of the newborn that is limited to the germinal matrix. Grade 1 Intraventricular Hemorrhage of the Newborn _ Intraventricular (Nontraumatic) Hemorrhage, Grade 1, of Fetus and Newborn NICHD Pediatric Terminology Neonatal Research Network Terminology Grade_2_Intraventricular_Nontraumatic_Hemorrhage_of_Fetus_and_Newborn C99139 Intraventricular hemorrhage of the newborn that is found in the ventricles. There is no change in the size of the ventricles. Grade 2 Intraventricular Hemorrhage of the Newborn _ Intraventricular (Nontraumatic) Hemorrhage, Grade 2, of Fetus and Newborn NICHD Pediatric Terminology Neonatal Research Network Terminology Grade_3_Intraventricular_Nontraumatic_Hemorrhage_of_Fetus_and_Newborn C99140 Intraventricular hemorrhage of the newborn that is found in the ventricles. It is associated with dilatation of the ventricles. Grade 3 Intraventricular Hemorrhage of the Newborn _ Intraventricular (Nontraumatic) Hemorrhage, Grade 3, of Fetus and Newborn NICHD Pediatric Terminology Neonatal Research Network Terminology Grade_III_Vesicoureteral_Reflux C98663 Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Mild dilatation of the ureter and the calyces is present. Grade III Vesicoureteral Reflux _ Vesicoureteric Reflux, Grade III NICHD Pediatric Terminology Neonatal Research Network Terminology Grade_II_Vesicoureteral_Reflux C98662 Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. There is no dilatation of the ureter and the calyces. Grade II Vesicoureteral Reflux _ Vesicoureteric Reflux, Grade II NICHD Pediatric Terminology Neonatal Research Network Terminology Grade_IV_Vesicoureteral_Reflux C98664 Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Moderate dilatation of the ureter and the calyces is present. Grade IV Vesicoureteral Reflux _ Vesicoureteric Reflux, Grade IV NICHD Pediatric Terminology Neonatal Research Network Terminology Grade_I_Vesicoureteral_Reflux C98661 Vesicoureteral reflux in which there is urine reflux into the ureter only. Grade I Vesicoureteral Reflux _ Vesicoureteric Reflux, Grade I NICHD Pediatric Terminology Neonatal Research Network Terminology Grade_V_Vesicoureteral_Reflux C98665 Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Severe tortuosity and dilatation of the ureter and the calyces are present. Grade V Vesicoureteral Reflux _ Vesicoureteric Reflux, Grade V NICHD Pediatric Terminology Neonatal Research Network Terminology Gram C48155 The metric unit of mass equal to one thousandth of a kilogram. One gram equals approximately 15.432 grains or 0.035 273 966 ounce. Gram _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Grasp_Reflex C81254 An involuntary, primal response in the neonate to grasp the fingers when their palm is touched. This reflex is present until six months of age. Grasp Reflex _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Great_Blood_Vessel C102955 Any of the major arteries or veins attached to the cardiac atria or ventricles. This includes the aorta, superior and inferior vena cava and the pulmonary arteries and veins. Great Blood Vessel _ NICHD Pediatric Terminology Neonatal Research Network Terminology Great_Vessel_Abnormality C99137 A congenital vascular abnormality that affects the great vessels and/or aortic arch. Representative examples include double aortic arch, aortic coarctation, and absence of a pulmonary artery. Great Vessels Abnormality _ NICHD Pediatric Terminology Neonatal Research Network Terminology Group_B_Streptococcal_Infection C87168 Group B Streptococcus, also known as Streptococcus agalactiae, colonizes the vaginal and gastrointestinal tracts of up to 45% of healthy women and may infect neonates in utero or during delivery, causing neonatal sepsis in 1-2% of colonized neonates. GBS infection may also occur in nonpregnant (particularly elderly) adults with underlying medical conditions, presenting as urinary tract infection, pneumonia, or soft-tissue infection. Group B Streptococcal Infection _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Group_B_Streptococcus_Screening C92805 Screening with a swab from the vaginal and rectal areas in late pregnancy to test for the presence of Group B streptococcal infection. Group B Streptococcus Screening _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Gynecologic_Surgical_Procedure C15332 Surgery performed on the female reproductive system. Gynecological Surgical Procedure _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology H1N1_Influenza C80444 An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness. H1N1 Influenza _ Swine flu NICHD Pediatric Terminology NICHD Childhood Immunization Terminology HELLP_Syndrome C84750 A life-threatening complication of pregnancy usually occurring in women with preeclampsia or eclampsia. It is characterized by hemolytic anemia, elevated liver enzymes, and low platelet count. Signs and symptoms include headaches, nausea, vomiting, blurred vision, and upper abdominal pain. It may lead to diffuse intravascular coagulation and acute renal failure. HELLP Syndrome _ Hemolysis-Elevated_Liver_Enzymes-Low_Platelet_Count_Syndrome NICHD Newborn Screening Terminology Neonatal Research Network Terminology HIV_Screening C92859 Testing of a pregnant mother for antibodies to the human immunodeficiency virus (HIV) in early pregnancy. Results permit management to reduce the chances of maternal transmission of HIV to the fetus. Prenatal HIV Screening _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Haemophilus_Influenzae_B_Vaccine C1126 A vaccine against serotype b of the Gram-negative bacterium H. influenzae (Hib). Hib vaccines contain polysaccharide-protein conjugate antigens that produce greater host immune responses than first-generation purified polysaccharide vaccine. These vaccines may differ with regard to use of protein carriers, polysaccharides, diluents, and preservatives. Haemophilus Influenzae B Vaccine _ Hib Vaccine; PRP vaccine NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Hand C32712 The distal portion of the upper extremity. It consists of the carpus, metacarpus, and digits. Hand _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Harlequin_Ichthyosis C98934 A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures. Harlequin Ichthyosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Head C12419 The anterior and superior part of a human bearing the mouth, the brain and sensory organs. Head _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Head_Circumference C81255 A circumferential measurement of the head at the widest point, which is traditionally above the eyebrows. Head Circumference _ NICHD Pediatric Terminology Neonatal Research Network Terminology Head_Circumference_at_Initial_Disposition C101221 The measurement around a neonate's head at birth. Birth Head Circumference _ NICHD Pediatric Terminology Neonatal Research Network Terminology Health C25178 Refers to a person's state of physical, mental and social well-being; usually it refers specifically to the state of being in good health, a state of complete physical, mental and social well-being, and does not consist only of the absence of disease or infirmity. In any organism health constitutes a form of homeostasis with inputs and outputs of energy and mass in approximate equilibrium allowing for growth and continued survival. In humans, a subjective feeling of well-being coming from somatic and cognitive perceptions is considered an essential component of health. Health _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Healthcare_Activity C16205 The actions of prevention, treatment, and management of illness and the preservation of mental and physical well-being through the services offered by the medical and allied health professions. Healthcare Activity NICHD Pediatric Terminology NICHD Pediatric Terminology Hearing_Loss C35731 A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. Hearing Loss _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Heart_Disease C3079 Any deviation from the normal structure or function of the cardiac system that is manifested by a characteristic set of symptoms and signs. Heart Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Heart_Murmur C84480 A periodic humming or blowing sound heard on auscultation of the heart that can indicate the presence of cardiac disease; murmurs are the result of vibrations caused by the turbulent flow of blood in the heart or great vessels. Murmurs are characterized according to the area of generation (mitral, aortic, tricuspid, or pulmonary) and according to the period of the cycle (systolic or diastolic). Heart Murmur _ NICHD Pediatric Terminology Neonatal Research Network Terminology Heart_Rate C49677 The number of heartbeats per unit of time, usually expressed as beats per minute. Heart Rate _ NICHD Pediatric Terminology Neonatal Research Network Terminology Heart_Rate_Score C81309 A component of the APGAR score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute. Heart Rate Score _ NICHD Pediatric Terminology Neonatal Research Network Terminology Heart_Rhythm C87081 The recurrent, measured movements (rhythm) of a beating heart. Heart Rhythm _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Heart_Valve_Disorder C45525 Any heart disorder characterized by a defect in valve structure or function. Valvular Heart Disorder _ Disorder of Heart Valve NICHD Pediatric Terminology Neonatal Research Network Terminology Heart_Valve_Regurgitation C50796 Dysfunction of one of the cardiac valves, with incomplete valve closure resulting in valvular regurgitation. Valvular Insufficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Heel_to_Ear_Measurement C89513 Useful in assessing neonatal neuromuscular development, this is obtained when the infant is placed in a supine position and the infant's feet are grasped pulled toward the ipsilateral ears. The examiner measures the angle made by the arc from the table to the infant's heels; increased angle for age suggests hypotonia, and decreased angle for age suggests hypertonia. Heel to Ear Measurement _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Hemangioendothelioma C3084 A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics. Hemangioendothelioma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemangioma C3085 A benign localized vascular neoplasm usually occurring in infancy and childhood. It is characterized by the formation of capillary-sized or cavernous vascular channels. The majority of cases are congenital. Hemangioma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemangioma_of_Intra-Abdominal_Structure C3635 A hemangioma arising from organs within the abdominal cavity. Intra-Abdominal Hemangioma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemangioma_of_Skin C4905 A hemangioma arising from the skin. Hemangioma of the Skin _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hematemesis C37964 Vomiting blood. Hematemesis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hematochezia C98936 The passage of fresh blood from the anus. The blood is usually seen in the stools. The most common cause is lower gastrointestinal tract hemorrhage. Hematochezia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hematologic_Neoplasm C27134 A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, and myelodysplastic syndromes. Hematopoietic and Lymphoid Cell Neoplasm _ Malignant Tumor of Lymphoid, Hemopoietic and/or Related Tissue; Neoplasm of Hematopoietic Cell Type NICHD Pediatric Terminology Neonatal Research Network Terminology Hematological_Disorder C26323 A neoplastic or non-neoplastic disorder that affects the production and proliferation of the hematopoietic cells including lymphoid cells, the synthesis of hemoglobin, and/or the mechanisms of coagulation. Hematologic and Lymphocytic Disorder NICHD Pediatric Terminology Hematology_Procedure C49286 A laboratory test that has blood as its specimen. Hematology Test _ Hematology Test NICHD Pediatric Terminology Neonatal Research Network Terminology Hematopoietic_Cell_Proliferation C19955 Myeloproliferation involves both medullary and extramedullary proliferation of bone marrow constituents, such as erythroblasts, granulocytes, megakaryocytes, and fibroblasts. Myeloproliferation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hematopoietic_Disorder C35814 Any deviation from the normal structure or function of the blood or lymphatic system that is manifested by a characteristic set of symptoms and signs. Hematopoietic and Lymphoid System Disorder _ Disorder of Hematopoietic System; Hemostatic Disorder NICHD Pediatric Terminology Neonatal Research Network Terminology Hematopoietic_System_Finding C36289 Symptoms, physical examination results, and/or laboratory test results related to the hematopoietic system. Hematopoietic System Finding _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemimelia C34674 A congenital malformation characterized by the partial or total absence of the distal half of a limb. Hemimelia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemochromatosis C84481 An inherited metabolic disorder characterized by iron accumulation in the tissues. Hemochromatosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemoglobin_A2_Measurement C92259 The determination of the amount of hemoglobin A2 present in a sample. Hemoglobin A2 Measurement _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemoglobin_A2_to_Total_Hemoglobin_Ratio_Measurement C81277 The determination of the ratio of Hemoglobin A2 compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. Hemoglobin A2 to Total Hemoglobin Ratio Measurement _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Hemoglobin_A_Measurement C92258 The determination of the amount of hemoglobin A present in a sample. Hemoglobin A Measurement _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemoglobin_A_to_Total_Hemoglobin_Ratio_Measurement C81276 The determination of the ratio of Hemoglobin A compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. Hemoglobin A to Total Hemoglobin Ratio Measurement _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Hemoglobin_Bart_s_Hydrops_Syndrome C84767 A condition characterized by fluid accumulation in two or more anatomic compartments in the fetus. Causes include Rh incompatibility, congenital heart defects, and chromosomal abnormalities. Hydrops Fetalis _ Hydrops Fetalis NICHD Pediatric Terminology Neonatal Research Network Terminology Hemoglobin_C_Disease C34675 A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. This disorder is caused by a specific mutation in the beta-globin HBB gene, whereby a lysine is substituted for a glutamic acid at the sixth amino acid in the protein. Hemoglobin C Disease _ Sickle_Cell-Hemoglobin_C_Disease; Hemoglobin C Disease NICHD Newborn Screening Terminology Neonatal Research Network Terminology Hemoglobin_C_to_Total_Hemoglobin_Ratio_Measurement C81278 The determination of the ratio of Hemoglobin C compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. Hemoglobin C to Total Hemoglobin Ratio Measurement _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Hemoglobin_Measurement C64848 A quantitative measurement of the amount of hemoglobin present in a sample. Hemoglobin Measurement _ Hemoglobin_Variant_Test NICHD Newborn Screening Terminology Neonatal Research Network Terminology Hemoglobin_S_to_Total_Hemoglobin_Ratio_Measurement C81279 The determination of the ratio of Hemoglobin S compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. Hemoglobin S to Total Hemoglobin Ratio Measurement _ Hemoglobin_S_Measurement NICHD Newborn Screening Terminology Neonatal Research Network Terminology Hemoglobinopathy C3092 An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. Hemoglobinopathy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemolytic_Anemia C34376 Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. Hemolytic Anemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemolytic_Anemia_due_to_Pyruvate_Kinase_Deficiency C99037 An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia. Pyruvate Kinase Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemolytic_Disease_due_to_ABO_Isoimmunization C101304 A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death. Hemolytic Disease of the Fetus or Newborn _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemolytic_Disease_of_the_Newborn C87115 A disorder caused when there is a Rh-factor blood-type incompatibility between the mother and fetus, and the mother's immune system forms antibodies that attack the red blood cells of her unborn child. This disorder can only occur if the mother is Rh-negative and the fetus is Rh-positive. Hemolytic Disease of the Newborn _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Hemophilia C3093 A deficiency or abnormality of a blood coagulation factor characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage, Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (factor VIII deficiency) hemophilia B or Christmas disease (factor IX deficiency), and hemophilia C (factor XI deficiency). In individuals without hereditary hemophilia A, factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in a condition known as 'acquired hemophilia.' Approximately 10 % of patients with acquired hemophilia have an underlying malignancy. Hemophilia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hemorrhage C26791 The flow of blood from a ruptured blood vessel. Hemorrhage _ NICHD Pediatric Terminology Neonatal Research Network Terminology Heparin-Induced_Thrombocytopenia C99111 A life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications. Heparin Induced Thrombocytopenia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hepatitis_A C3096 Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water. Hepatitis A Infection _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Hepatitis_A_Vaccine C29090 An inactivated virus vaccine that provides active immunization against hepatitis A virus (HAV). Immunization with hepatitis A vaccine induces the formation of anti-HAV antibodies which provide protection against hepatitis A infection. Hepatitis A Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Hepatitis_B C3097 A viral infection caused by the hepatitis B virus. Hepatitis B Infection _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Hepatitis_B_Screening C92806 A test performed to determine the presence or absence of hepatitis B surface antigen. Hepatitis B Screening _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Hepatoblastoma C3728 A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well. Hepatoblastoma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hereditary_Coagulation_Factor_Deficiency C98942 An inherited blood coagulation disorder characterized by deficiency of one of the coagulation factors, resulting in bleeding. Hereditary Coagulation Factor Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hereditary_Factor_II_Deficiency_Disease C26799 A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding. Hereditary Factor II Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hereditary_Factor_IX_Deficiency_Disease C26721 An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX. Hemophilia B _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hereditary_Factor_I_Deficiency_Disease C98937 An inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding. Hereditary Factor I Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hereditary_Factor_VII_Deficiency_Disease C98939 A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor VII, resulting in bleeding. Hereditary Factor VII Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hereditary_Factor_V_Deficiency_Disease C98938 A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor V, resulting in bleeding. Hereditary Factor V Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hereditary_Factor_XIII_Deficiency_Disease C98941 A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor XIII, resulting in bleeding. Hereditary Factor XIII Deficiency _ NICHD Pediatric Terminology Neonatal_Research_Network_Terminology Hereditary_Factor_XII_Deficiency_Disease C26770 A rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor XII. It may be asymptomatic or manifest with bleeding. Hereditary Factor XII Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hereditary_Factor_XI_Deficiency_Disease C84705 A rare inherited bleeding disorder caused by deficiency of coagulation factor XI. It may be asymptomatic or manifest with bleeding. Hereditary Factor XI Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hereditary_Factor_X_Deficiency_Disease C98940 A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor X, resulting in bleeding. Hereditary Factor X Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hereditary_Orotic_Aciduria C98944 An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. Hereditary Orotic Aciduria _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hereditary_Pyropoikilocytosis C98943 An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. Hereditary Pyropoikilocytosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hernia C34685 The protrusion of part of an organ or fibroadipose tissue through an abnormal opening. Hernia NICHD Pediatric Terminology Hernia_of_Abdominal_Wall C98700 The protrusion of abdominal contents through a congenital or acquired defect in the abdominal wall. Abdominal Hernia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Herpes C50583 Any inflammatory skin disease caused by a herpesvirus and characterized by the formation of small vesicles in clusters. Herpes _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Heterotaxia C87083 The abnormal arrangement or position of thoracic and/or abdominal organs in relation to each other, often occurring in a right/left transposition. Heterotaxia _ Heterotaxia_Syndrome NICHD Newborn Screening Terminology Neonatal Research Network Terminology Heterotaxy_Asplenia C101326 A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; this is in conjunction the absence of a spleen. Heterotaxy Syndrome with Asplenia _ Heterotaxy, Asplenia NICHD Pediatric Terminology Neonatal Research Network Terminology Heterotaxy_Polysplenia C101325 A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; this is in conjunction with many small accessory spleens instead of one. Heterotaxy Syndrome with Polysplenia _ Heterotaxy, Polysplenia NICHD Pediatric Terminology Neonatal Research Network Terminology Hiatal_Hernia C98945 Herniation of the upper part of the stomach through the diaphragm. Hiatal Hernia _ NICHD Pediatric Terminology Neonatal Research Network Terminology High_Molecular_Weight_Kininogen_Deficiency C98946 A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. High Molecular Weight Kininogen Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology High_Pitched_Cry C87169 A symptom in infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes, including birth trauma, craniosynostosis, Arnold-Chiari deformity, meningitis, and cri-du-chat syndrome (deletion of the short arm of chromosome 5). High Pitched Cry _ NICHD Pediatric Terminology Neonatal Research Network Terminology High_Risk_Pregnancy C92807 A fetal/maternal condition that is risky and portends complications for the mother and/or fetus, when compared to a normal pregnancy. High Risk Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology High_Test_Reference_Range C70933 Reported upper limit of the test reference range. High Test Reference Range _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Hirschsprung_s_Disease C34700 A congenital disorder characterized by the absence of myenteric ganglion cells in the distal colon. It results in a functional stenosis of the distal colon and a massive distention of the proximal colon. Aganglionic Megacolon _ NICHD Pediatric Terminology Neonatal Research Network Terminology His_Bundle_Tachycardia C98848 An electrocardiographic finding of a congenital tachycardia that affects neonates and infants. It results from an increased automaticity in the atrioventricular node and His bundle. Bundle of His Tachycardia _ Congenital His Bundle Tachycardia NICHD Pediatric Terminology Neonatal Research Network Terminology Histiocytic_Syndrome C3107 A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001) Langerhans Cell Histiocytosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Holoprosencephaly_Sequence C74988 A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures. Holoprosencephaly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Homocystinuria C84765 An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. Homocystinuria _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hormonal_Method C92808 The birth control method that utilizes external source of sex hormones to prevent pregnancy by interfering with the ovulation, fertilization or implantation of the fertilized egg in the uterus. Hormonal Contraception _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Hormone_Imbalance C92809 An abnormal finding indicating that the level of a particular hormone is not within the expected normal values. Hormone Imbalance _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Hormone_Measurement C74742 The determination of the amount of hormone present in a sample. Hormone Measurement _ NICHD Pediatric Terminology Neonatal Research Network Terminology Horseshoe_Kidney C98947 A congenital abnormality in which the two kidneys fuse together during fetal development to create a horseshoe-shaped structure. Horseshoe Kidney _ NICHD Pediatric Terminology Neonatal Research Network Terminology Human_Chorionic_Gonadotropin_Measurement C75387 A laboratory test to detect the amount of human chorionic gonadotropin in a biospecimen. Human Chorionic Gonadotropin Measurement _ NICHD Pediatric Terminology Neonatal Research Network Terminology Human_Papilloma_Virus C14226 A strain of papillomavirus that can infect the skin and mucous membranes of humans. Human Papillomavirus _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Human_Papillomavirus-16 C14338 A virus comprised of a protein coat (capsid) surrounding a circular, double-stranded DNA organized into coding and non-coding regions, which can induce skin and mucosal epithelial lesions. Human papillomavirus-16 (HPV16) has been directly linked to cervical cancer and is significantly associated with invasiveness. Progression from low- to high-grade neoplasia is often associated with the integration of the HPV16 genome into the host chromosome. Human Papillomavirus-16 _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Human_Papillomavirus-18 C14377 A virus comprised of a protein coat (capsid) surrounding a circular, double-stranded DNA organized into coding and non-coding regions, which can induce skin and mucosal epithelial lesions. Human papillomavirus-18 (HPV18) has been directly linked to cervical cancer and plays a role in the pathogenesis of the disease. The virus integrates its DNA at specific chromosomal locations, such as 8q24 and 12q15. The use of molecular markers for HPV18 infection may allow the identification of patients with early stage cervical cancer and those at high risk for disease recurrence. Human Papillomavirus-18 _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Hydranencephaly C98949 A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor. Hydranencephaly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hydrocephalus C3111 A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. Hydrocephalus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hyperammonemia C98950 A laboratory test result indicating increased levels of ammonia in the blood. Hyperammonemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hyperbilirubinemia C27088 Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice. Elevated Bilirubin _ Physiological Hyperbilirubinemia NICHD Pediatric Terminology Neonatal Research Network Terminology Hypercoagulability_State C84479 A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. Excessive Blood Clotting _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hyperemesis_Gravidarum C87084 Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances. Hyperemesis Gravidarum _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Hyperextension_Deformity_of_Knee C103184 An abnormal alignment of the knee backwards that is due to a deformity in the knee joint. Hyperextension of Knee Deformity _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hyperkalemia C37968 Higher than normal levels of potassium in the circulating blood; associated with kidney failure or sometimes with the use of diuretic drugs. Hyperkalemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hypermagnesemia C37969 Higher than normal levels of magnesium in the circulating blood. Hypermagnesemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hypernatremic_Dehydration C101229 Dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk. Hypernatremic Dehydration _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hyperparathyroidism C48259 Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. Hyperparathyroidism _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hypertensive_Disorder C3117 Pathological increase in blood pressure; a repeatedly elevated blood pressure exceeding 140 over 90 mmHg. Hypertension NICHD Pediatric Terminology Hyperthermia C50589 A condition that manifests with abnormally high body temperature. In hyperthermic state, the hypothalamic set-point is normal but body temperature increases and overrides the ability to lose heat, resulting from exogenous heat exposure or endogenous heat production, e.g. in heat stroke, malignant hyperthermia, endocrine hyperthermia, or neuroleptic malignant syndrome. The concept does not refer to hyperpyrexia, the state when the hypothalamic set-point is reset at a higher temperature and is physiologically regulated. Hyperthermia _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Hyperthyroidism C3123 Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. Hyperthyroidism _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hypertonia C87085 A condition of increased muscle tone manifested by increased resistance of the muscle to passive stretching. Hypertonia _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Hypertrophic_Pyloric_Stenosis C98952 An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration. Hypertrophic Pyloric Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hypnobirthing C92810 An unique natural method of childbirth that is supported by a relaxing self-hypnosis method. Hypnobirthing _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Hypocalcemia C37973 Lower than normal levels of calcium in the circulating blood. Hypocalcemia Hypocalcaemia is an electrolyte disturbance in which the serum calcium levels in the blood are low (less than 2.1 mmol/L). NICHD Pediatric Terminology Neonatal Research Network Terminology Hypomagnesemia C37975 Lower than normal levels of magnesium in the circulating blood. Hypomagnesemia Hypomagnesemia is an electrolyte disturbance in which there is an abnormally low level of magnesium in the blood (less than 0.7 mmol/L) NICHD Pediatric Terminology Neonatal Research Network Terminology Hyponatremia C37976 Lower than normal levels of sodium in the circulating blood. Hyponatremia Hyponatremia is an electrolyte disturbance in which the sodium concentration in the serum is lower than normal. Sodium homeostasis is vital to the normal physiologic function of cells. Hyponatremia is defined as a serum level of less than 135 mEq/L and is considered severe when the serum level is below 125 mEq/L. NICHD Pediatric Terminology Neonatal Research Network Terminology Hypoparathyroidism C78350 An endocrine disorder characterized by decreased production of parathyroid hormone by the parathyroid glands. It is usually caused by damage of the parathyroid glands during head and neck surgery. Signs and symptoms include muscle cramps, abdominal pain, dry skin, brittle nails, cataracts, tetany, and convulsions. Hypoparathyroidism _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hypophosphatasia C26798 A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders. Hypophosphatasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hypoplasia_of_the_Optic_Nerve C98999 A congenital abnormality characterized by the underdevelopment of the optic nerve. Optic Nerve Hypoplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hypoplastic_Left_Heart_Syndrome C98894 A rare congenital cardiovascular disorder characterized by severe underdevelopment of the left side of the heart. Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy. Hypoplastic Left Heart Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hypospadias C40341 A congenital abnormality in which the external urethral orifice is on the underside of the penis. In a minority of cases it is associated with other genitourinary abnormalities. Hypospadias _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hypothyroidism C26800 A condition in which the production of thyroid hormone by the thyroid gland is diminished. Signs and symptoms of hypothyroidism include low metabolic rate, tendency to weight gain, somnolence and sometimes myxedema. In the United States, the most common cause of hypothyroidism is Hashimoto's thyroiditis, an autoimmune disorder. Hypothyroidism _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hypotonia C87070 A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching. Hypotonia _ Poor_Muscle_Tone NICHD Newborn Screening Terminology Neonatal Research Network Terminology Hypoxia C3890 A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). Hypoxia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hypoxic_Ischemic_Encephalopathy C35549 Ischemic brain damage in which the entire brain is deprived of oxygen. It may be fatal or lead to long term disabilities including developmental delays, intellectual disability, and seizures. Hypoxic Encephalopathy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Hysterectomy C15256 A surgical procedure to remove the uterine body (partial hysterectomy) or the uterine body and cervix (total hysterectomy). -- 2004 Hysterectomy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Hysterotomy C92811 A surgical incision made on the uterus to access the uterine cavity. Hysterotomy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Hysterotomy_Abortion C92812 A type of abortion where the product of conception is accessed through a surgical incision on the corpus uteri intended to terminate the pregnancy. Hysterotomy Abortion _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Identification C25737 The procedure of having an identity established. Identification _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Ileal_Band C101276 A pathologic fibrous band that impedes passage of intestinal contents through the ileum. Ileal Band _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ileal_Web C98953 The formation of tissue in the lumen of the ileum that results in partial obstruction. Ileal Web _ NICHD Pediatric Terminology Neonatal Research Network Terminology Image_Identifier C81289 A sequence of letters, numbers, or other characters that specifically identifies a particular image. Image Identifier _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Imaging_Information C81256 A collection of data pertinent to a radiographic study. Imaging Information _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Immature_Retinal_Vasculature C99115 A finding that indicates the presence of immature retinal vessels as a result of prematurity. Immature Retinal Vasculature Retinal vessels in premature infants which do not complete their normal growth. For the purpose of defining the location, three concentric zones were defined. Since retinal vascular development proceeds from the optic nerve to the ora serrata, the zones are centered on the optic disc rather than the macula. NICHD Pediatric Terminology Neonatal Research Network Terminology Immature_Retinal_Vasculature_in_Zone_1 C99117 A finding that indicates the presence of immature retinal vessels in zone 1 of the retina. Immature Retinal Vasculature in Zone 1 Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". Zone I is a circle, the radius of which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. NICHD Pediatric Terminology Neonatal Research Network Terminology Immature_Retinal_Vasculature_in_Zone_2 C99118 A finding that indicates the presence of immature retinal vessels in zone 2 of the retina. Immature Retinal Vasculature in Zone 2 Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". Zone II extends centrifugally from the edge of zone I to the nasal ora serrata. NICHD Pediatric Terminology Neonatal Research Network Terminology Immature_Retinal_Vasculature_in_Zone_3 C99119 A finding that indicates the presence of immature retinal vessels in zone 3 of the retina. Immature Retinal Vasculature in Zone 3 Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". Zone III is the residual crescent of retina anterior to zone II. NICHD Pediatric Terminology Neonatal Research Network Terminology Immotile_Cilia_Syndrome C84638 Defective movements of the cilia. It includes abnormal movements of the cilia in the nose and paranasal sinuses, the respiratory tract and spermatozoa. Ciliary Motility Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Immune_Disorder C3507 A disorder resulting from an abnormality in the immune system. Immune System Disorder _ Disorder of Immune System NICHD Pediatric Terminology Neonatal Research Network Terminology Immunization C15258 Inoculating an individual with either killed or live agents to prevent contraction of a disease. Immunization _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Immunolymphatic_System_Disorder C3507 A disorder resulting from an abnormality in the immune system. Immune System Disorder NICHD Pediatric Terminology Impending_Labor C92813 The period of time prior to the beginning of childbirth labor; common signs and symptoms include nesting, anxiety, excitement, loss of mucous plug, increased urinary frequency and loose bowel movements. Impending Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Imperforate_Anus C84784 A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities. Imperforate Anus _ Anal Atresia NICHD Pediatric Terminology Neonatal Research Network Terminology In-utero_Drug_Withdrawal C103183 Drug withdrawal symptoms in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence. In utero Drug Withdrawal A substance-abuse withdrawal syndrome in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence. Signs and symptoms are characteristic of withdrawal syndromes and may affect fetal growth. NICHD Pediatric Terminology Neonatal Research Network Terminology In_Utero_Bowel_Perforation C99121 Bowel perforation in utero, caused by bowel obstruction. It results in meconium peritonitis. In Utero Bowel Perforation In utero bowel perforation is a rupture of the bowel prior to birth, resulting in fetal stool (meconium) escaping into the surrounding space (peritoneum) leading to inflammation (peritonitis). It results in meconium peritonitis. NICHD Pediatric Terminology Neonatal Research Network Terminology In_Vitro_Fertilization C16580 Fertilization of an ovum outside of the body. in vitro Fertilization _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Inactivated_Poliovirus_Vaccine C91715 A vaccine consisting of inactivated poliovirus (IPV) types 1,2 and 3, with active immunizing activity against poliomyelitis. Upon intramuscular vaccination, inactivated poliovirus vaccine (IPV) activates the immune system to develop antibodies against polioviruses. Inactivated Poliovirus Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Inactivated_Vaccine C29694 A preparation of killed microorganisms that is intended to prevent or treat an infectious disease by inducing active immunity to the causative microorganism. Inactivated Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Inch C48500 A traditional unit of length equal to 1/12 of a foot or 2.54 centimeters. Inch _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Incontinentia_Pigmenti_Syndrome C84787 A rare disorder caused by mutations in the IKBKG gene. It is characterized by skin abnormalities, alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial blistering rash, to wart-like lesions, and eventually to hypopigmentation. Incontinentia Pigmenti _ NICHD Pediatric Terminology Neonatal Research Network Terminology Increased_Bone_Density C99124 A finding indicating an increased density of minerals in the bones. Causes include osteopetrosis and Paget disease. Increased Bone Density _ NICHD Pediatric Terminology Neonatal Research Network Terminology Increased_Frequency_of_Urination C26906 Urination at short intervals; it may result from increased urine formation, decreased bladder capacity, or lower urinary tract irritation. Urinary Frequency _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Increased_Muscle_Tone C79750 Increased involuntary muscle tone caused by central nervous system disorders that affect the regions interfering with voluntary movement. It results in gait, movement, and speech disturbances. Representative examples of disorders causing spasticity include brain or spinal cord injury, and multiple sclerosis. Spasticity _ NICHD Pediatric Terminology Neonatal Research Network Terminology Indicator C25180 An event, entity or condition that typically characterizes a prescribed environment or situation and determines or aids in determining whether certain stated circumstances exist or criteria are satisfied. Indicator _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Induced_Abortion C92954 A surgical or medical procedure that terminates a pregnancy by removing the fetus. Induced Abortion Procedure _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Induction_of_Labor C92814 The administration of pharmaceutical agents to promote the start of labor and childbirth process. Induction of Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Infant C27956 A young child between one month and two years of age. Infant _ NICHD Pediatric Terminology Infant_Formula C81249 A nutritional substitute for breast milk, usually with a foundation of cow or soy milk. Infant Formula _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Infant_Reflex C81181 Primitive reflex actions that newborns display in response to specific stimuli. These reflexes are involuntary and most disappear as the infant matures. Infant Reflex _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Infant_Stage C89889 The period of life between 28 days and 13 months of age. Infancy _ NICHD Pediatric Terminology Infarct C25738 A localized pathological necrosis of tissue resulting from obstruction of the blood supply usually by a thrombus, an embolus, or vascular torsion. Infarction _ NICHD Pediatric Terminology Neonatal Research Network Terminology Infarction_of_Spinal_Cord C99063 Ischemic necrosis of the spinal cord caused by occlusion of the arteries that supply blood to the spinal cord. Signs and symptoms include intermittent back pain, pain in the legs, paralysis, and incontinence. Spinal Cord Infarction _ NICHD Pediatric Terminology Neonatal Research Network Terminology Infection_of_Skin C35025 An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm. Skin Infection _ NICHD Pediatric Terminology Neonatal Research Network Terminology Infectious_Disease C26726 A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. Infectious Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Infective_Meningitis C79598 Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures. Infectious Meningitis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Infertility C3836 Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. Infertility _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Inflammatory_Disorder C93210 An infectious or non infectious disorder characterized by signs and symptoms derived from focal or extensive tissue infiltration by acute (e.g., polymorphonuclear) or chronic (e.g., lymphocytic-plasmacytic) inflammatory cells. Representative examples of infectious disorders include viral infections, bacterial infections, and parasitic infections. Representative examples of non-infectious inflammatory disorders include inflammatory bowel disease and inflammatory polyps. Inflammatory Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Influenza C53482 An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system. Influenza _ Flu NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Influenza_Vaccination C96408 The administration of live or attenuated influenza virus for the prophylaxis of influenza. Influenza Vaccination _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Inguinal_Hernia C34690 The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region. Inguinal Hernia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Injury_of_Eye_Region C34602 Damage to the eye. Ocular Injury _ NICHD Pediatric Terminology Neonatal Research Network Terminology Injury_of_Head C34660 A traumatic injury to the head. Head Injury _ NICHD Pediatric Terminology Neonatal Research Network Terminology Injury_of_Integument C99062 Damage to the skin. Skin Injury _ NICHD Pediatric Terminology Neonatal Research Network Terminology Injury_of_Musculoskeletal_System C98904 Damage inflicted on the bones and/or soft tissues as the direct or indirect result of an external force, with or without disruption of structural continuity. Connective and Soft Tissue Injury _ NICHD Pediatric Terminology Neonatal Research Network Terminology Inspection_of_palm_crease C89514 When examining the infant's palm for abnormalities, the examiner may note a single transverse palmar crease, which is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome. Palmar Crease Examination _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Integumentary_System_Disorder C3371 Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. Skin Disorder A human life stage that begins at birth and continues until twelve complete months of age. Skin_Disorder; Disorder of Skin NICHD Pediatric Terminology Neonatal Research Network Terminology Integumentary_System_Finding C36281 Symptoms, physical examination results, and/or laboratory test results related to the integumentary system. Integumentary System Finding _ Skin Finding NICHD Pediatric Terminology Neonatal Research Network Terminology Intellectual_Disabilities C97250 A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth or disease and are not restricted to any particular age group. Intellectual Disability _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Intensified_Contraction C92815 A powerful, temporary tensing of the uterine muscles that is stronger than previously felt movements. Intense Uterine Contraction _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Intercostal_Retractions C87087 The marked inward movement of the muscles between the ribs during inhalation; they indicate that there is reduced pressure in the chest cavity and can be a sign of breathing difficulties. Intercostal Retractions _ Intercostal_Recession NICHD Newborn Screening Terminology Neonatal Research Network Terminology Intermittent_Deceleration C92816 An infrequently repeated decrease in the fetal heart rate that occurs in conjunction with a uterine contraction. Intermittent Fetal Heart Rate Deceleration _ NICHD Pediatric Terminology Neonatal Research Network Terminology Internal_Fetal_Rotation C92817 A finding during labor, in which the occiput rotates anteriorly and the head of the fetus assumes an oblique orientation while the fetus descends through the maternal pelvis. Internal Fetal Rotation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Internal_Nare C32856 The inner portion of the nostrils of the nose. Internal Nare _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Interrupted_Aortic_Arch C98958 A rare congenital cardiovascular disorder characterized by the presence of a gap between the ascending and descending portions of the thoracic aorta. This disorder is often associated with ventricular septal defect, ductus arteriosus, or truncus arteriosus. Interrupted Aortic Arch _ NICHD Pediatric Terminology Neonatal Research Network Terminology Interstitial_Emphysema_of_Lung C34571 Pathologic accumulation of air in the interstitium of the lungs. It is caused by the rupture of alveoli and terminal bronchioles. It is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome. Interstitial Emphysema _ NICHD Pediatric Terminology Neonatal Research Network Terminology Interstitial_Lung_Disease C26869 Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause). Pulmonary Fibrosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Intervention_or_Procedure C25218 An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects. Intervention or Procedure _ Procedure NICHD Pediatric Terminology Neonatal Research Network Terminology Intestinal_Malrotation C98961 A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction. Intestinal Malrotation _ Congenital Malrotation of Intestine NICHD Pediatric Terminology Neonatal Research Network Terminology Intestinal_Obstruction C9175 Blockage of the normal flow of the intestinal contents within the bowel. Bowel Obstruction _ NICHD Pediatric Terminology Neonatal Research Network Terminology Intestinal_Volvulus C98963 Twisting of a loop of bowel that results in intestinal obstruction. Intestinal Volvulus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Intra_Uterine_Device C42771 A device usually made of plastic or metal, inserted into the uterus to prevent conception. IUCD can be a coil, loop, triangle, or T in shape; its material can be impregnated with a pharmaceutical agent. The primary action of all IUCDs is the induction of a foreign-body reaction within the endometrium. This sterile inflammatory process is toxic to gametes, primarily spermatozoa, and effectively prevents viable sperm from passing into the fallopian tubes. The copper-bearing device has an independent toxic effect on spermatozoa. The progestin-releasing devices produce changes in endometrial architecture and function that reduce the potential for implantation of a fertilized egg. The progestin effect on the cervical mucus also reduces the penetrability of sperm. Intrauterine Device Intra Uterine Contraceptive Device is a form of birth control that involves an object placed in the uterus to prevent fertilization of the egg by sperm.IUCD can be a coil, loop, triangle, or T in shape; its material can be impregnated with a pharmaceutical agent. NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Intracranial_Aneurysm C34458 A congenital or acquired aneurysm within the cranium. Intracranial Aneurysm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Intracranial_Hemorrhage C50438 Bleeding within the cranium. Intracranial Hemorrhage _ NICHD Pediatric Terminology Neonatal Research Network Terminology Intramuscular_Route_of_Administration C28161 Intramuscular injection is a route of drug administration via injection into muscle tissue. Aqueous or oleaginous solutions and emulsions or suspensions may be administered. Absorption rates, delay in availability of the drug to the systemic circulation, and duration of effect are perfusion-limited, depend on molecular size of the agent, volume, and osmolarity of the drug solution, fat content of the injection site, and patient physical activity. Intramuscular Route of Administration _ NICHD Pediatric Terminology Intrapartum C92818 The period of time during labor and delivery. Intrapartum _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Intrapartum_Cardiotocography C92922 The monitoring of both maternal uterine contractions and fetal heart rate during the process of labor and delivery. Cardiotocography _ Electronic fetal monitoring; continuous cardiotocography (CTG); intrapartum CTG NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Intrapartum_Process C92819 The process that occurs during labor and delivery. Intrapartum Process _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Intrauterine_Cordocentesis C92820 The retrieval of blood sample from the umbilical cord while the fetus is in utero. Intrauterine Cordocentesis _ Fetal Blood Sampling; Percutaneous Umbilical Blood Sampling (PUBS); Umbilical Vein Sampling NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Intrauterine_Growth_Retardation C80083 Inhibition of fetal growth resulting in the inability of the fetus to achieve its potential size. Fetal Growth Retardation _ Fetal Growth Restriction; Fetal Growth Retardation; IUGR; Intrauterine Growth Restriction NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Intravenous_Route_of_Administration C38276 Administration of a drug within or into a vein or veins. Introduction of the drug directly into venous circulation results in 100% bioavailability due to an absence of the absorption phase, provides a precise and continuous mode of drug therapy, especially for drugs with a narrow therapeutic index. Intravenous Route of Administration _ NICHD Pediatric Terminology Intraventricular_Hemorrhage C50896 Bleeding into the brain's ventricles. Intraventricular Brain Hemorrhage _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Irregular_Breathing C87089 A change from the normal breathing pattern in an infant, child, or adult, in terms of the amplitude and frequency of inhalations and exhalations. Irregular Respiration _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ischemic_Necrosis C103225 Loss of vascularization and tissue death caused by the disruption in the arterial access. Common causes include trauma due to accidents, insect or reptile bites, severe cold exposure or pathological conditions such as infarctions or blood dyscrasias. Ischemic Necrosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ischium C32884 The most posterior and ventral bone making up the pelvis. Ischium _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Islet_Cell_Hyperplasia C4375 A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia. Nesidioblastosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Isovaleryl-CoA_Dehydrogenase_Deficiency C98964 A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma. Isovaleric Acidemia _ Procedure (NRNT) NICHD Pediatric Terminology Neonatal Research Network Terminology Jaundice C3143 Yellow pigmentation of the skin, mucous membranes, and the eyes due to hyperbilirubinemia. Causes include liver disease, biliary tract obstruction, and hemolysis. Jaundice _ NICHD Pediatric Terminology Neonatal Research Network Terminology Jejunal_Band C101277 A pathologic fibrous band that impedes passage of intestinal contents through the jejunum. Jejunal Band _ NICHD Pediatric Terminology Neonatal Research Network Terminology Jejunal_Web C98966 The formation of tissue in the lumen of the jejunum that results in partial obstruction. Jejunal Web _ NICHD Pediatric Terminology Neonatal Research Network Terminology Karyotype C25215 The appearance of the chromosomal makeup of a somatic cell in an individual or species, including the number and arrangement and size and structure of the chromosomes. Karyotype _ Karyotype_Morphology NICHD Newborn Screening Terminology Neonatal Research Network Terminology Kernicterus_due_to_Isoimmunization C101270 Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus. Kernicterus due to Isoimmunization _ NICHD Pediatric Terminology Neonatal Research Network Terminology Kernicterus_not_due_to_Isoimmunization C84799 A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin. Kernicterus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Kidney_Disease C3149 A neoplastic or non-neoplastic condition affecting the kidney. Representative examples of non-neoplastic conditions include glomerulonephritis and nephrotic syndrome. Representative examples of neoplastic conditions include benign processes (e.g., renal lipoma and renal fibroma) and malignant processes (e.g., renal cell carcinoma and renal lymphoma). Renal Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Klinefelter_s_Syndrome_XXY C34752 A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. Klinefelter Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Klippel-Feil_Sequence C98967 A rare congenital syndrome characterized by the fusion of the vertebrae in the cervical spine. Patients present with a short neck and restricted mobility of the upper spine. Other signs and symptoms include scoliosis, spina bifida, cleft palate, and rib malformations. Klippel-Feil Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Klippel-Trenaunay-Weber_Syndrome C84801 A rare syndrome characterized by the presence of port-wine stain (a vascular malformation), varicose veins, and hypertrophy of the soft tissues and bones in an extremity. It usually affects one extremity, most commonly a leg. Klippel-Trenaunay-Weber Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Knee_Joint C32898 A joint connecting the lower part of the femur with the upper part of the tibia. The lower part of the femur and the upper part of the tibia are attached to each other by ligaments. Other structures of the knee joint include the upper part of the fibula, located below and parallel to the tibia, and the patella which moves as the knee bends. Knee Joint _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Labial_Fusion C87090 Usually found in girls between 6 months and 6 years of age, this condition occurs wherein the labia grow together instead of as 2 separate folds, thereby blocking the opening of the vagina. It is caused by conditions such as repeated diaper rash, urine and stool infections, and sexual abuse. The condition often spontaneously corrects or responds to the application of estrogen cream. Labial Fusion _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Labor C92743 The processes an individual engages in when she attempts to gives birth. Birthing Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Labor_Pain C92821 The discomfort that is experienced by the pregnant mother during the childbirth process as she attempts to give birth. Labor Pain _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Labor_and_Delivery_Process C92934 The process by which a mammal gives birth. Parturition _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Laboratory_Procedure C25294 Any procedure that involves testing or manipulating a sample of blood, urine, or other body substance in a laboratory setting. Laboratory Procedure _ NICHD Pediatric Terminology Neonatal Research Network Terminology Laboratory_Test_Result C36292 The outcome of a laboratory test. Laboratory Test Result _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Lacrimal_Mucocele C98968 A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction. Lacrimal Mucocele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Lacrimal_System_Disorder C26809 A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. Lacrimal System Disorder _ Disorder of Lacrimal System NICHD Pediatric Terminology Neonatal Research Network Terminology Lactic_Acidosis C98969 Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. Lactic Acidosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Language_Disorder C97155 A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect. Language Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Lanugo C34197 Fine downy hair that covers the body of a human fetus beginning in the fifth month of gestation; it is usually shed by the ninth month of gestation. Lanugo _ NICHD Pediatric Terminology Neonatal Research Network Terminology Laparotomy C15266 Creation of a surgical opening into the abdominal cavity. Laparotomy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Large_Bowel_Fistula C78239 An abnormal communication between the large intestine and another organ or cavity. Colonic Fistula _ NICHD Pediatric Terminology Neonatal Research Network Terminology Large_for_Gestational_Age C87092 A fetus or infant who is larger than expected for the age or gender, or who has a birthweight greater than the 90th percentile. Large for Gestational Age _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Laryngeal_Stenosis C79608 Narrowing of the laryngeal airway. Laryngeal Stenosis Laryngeal stenosis is a congenital or acquired narrowing of the upper airway that results in difficulty breathing. NICHD Pediatric Terminology Neonatal Research Network Terminology Laryngeal_Web C98970 Tissue that develops between the vocal cords. Laryngeal Web _ NICHD Pediatric Terminology Neonatal Research Network Terminology Laryngomalacia C98971 A usually congenital abnormality characterized by softening of the laryngeal cartilage. It presents in infancy with stridor. Laryngomalacia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Lasso-O_Measuring_Tape C81310 A measuring tape frequently used to measure head circumference in newborns. Lasso-O Measuring Tape A measuring tape frequently used to measure head circumference in newborns. It can measure any circumference to the nearest millimeter and is manufactured from paper-thin, non-stretch, non-shrink plastic. NICHD Pediatric Terminology NICHD Newborn Screening Terminology Last_Menstrual_Period C81257 The first day of the female's last menstrual cycle. Last Menstrual Period _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Last_Screening C81258 The most recent screening. Last Screening _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Late_Adolescence C89344 A transitional time in an individual's life between adolescence and early adulthood. This phase includes the final stages of pubertal growth and development as well as the attainment of significant psycho-social milestones. Late Adolescence A human life stage that begins at nineteen years of age and continues until twenty-one complete years of age. This phase includes the final stages of pubertal growth and development as well as the attainment of significant psycho-social milestones. NICHD Pediatric Terminology Late_Deceleration C92822 A decrease in the fetal heart rate that occurs gradually after the peak in uterine contraction. Late Fetal Heart Rate Deceleration _ Late_Fetal_Heart_Deceleration NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Late_Pregnancy_Bleeding C92823 An abnormal bleeding through the vagina that occurs during the last trimester of pregnancy. Late Pregnancy Bleeding _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Latent_Phase_of_Labor C92941 The period during the first stage of labor and childbirth that precedes the active phase of labor. Latent Phase of Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Leakage_of_Amniotic_Fluid C92824 The discharge of amniotic fluid vaginally due to a tear or rupture in the amniotic membrane. Leakage of Amniotic Fluid _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Learning_Disorder C89334 A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect. Learning Disorder _ NICHD Pediatric Terminology Left_Ear C81259 The organ of hearing located on the left side of the head. Left Ear _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Left_Occiput_Anterior C92825 A fetal position during delivery in which the head of the fetus is in the birth canal facing the area between the right hip and the spine of the mother. Left Occiput Anterior Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Left_Ventricular_Outflow_Tract_Obstruction C99126 Obstruction of the left ventricular outflow tract. It is caused by aortic valve, supravalvar, or subvalvar defects. Left Ventricular Outflow Tract Obstruction _ NICHD Pediatric Terminology Neonatal Research Network Terminology Leg C32974 One of the two lower extremities in humans used for locomotion and support. Leg _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Leigh_s_Disease C84814 An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures. Leigh Disease _ Pyruvate Dehydrogenase Complex Deficiency NICHD Pediatric Terminology Neonatal Research Network Terminology Length C25334 The linear extent in space from one end of something to the other end, or the extent of something from beginning to end. Length _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Leukemia C3161 A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. Leukemia _ Leukemia, Disease NICHD Pediatric Terminology Neonatal Research Network Terminology Leukemoid_Reaction C3185 A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear. Leukemoid Reaction _ NICHD Pediatric Terminology Neonatal Research Network Terminology Leukemoid_Reaction_of_the_Newborn C101319 Increased white blood cell count and increased neutrophil precursors resembling leukemia in a neonate or fetus. Often, this is a response to medications received, infection or Down syndrome. Transient Leukemoid Reaction of the Newborn _ Transient Leukemoid Reaction of Newborn NICHD Pediatric Terminology Neonatal Research Network Terminology Leukocytosis C35524 A laboratory test result indicating an increased number of white blood cells in the peripheral blood. Leukocytosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Levo-Transposition_of_the_Great_Vessels C98902 An acyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery. Levo-Transposition of the Great Arteries _ L-Transposition of the Great Vessels NICHD Pediatric Terminology Neonatal Research Network Terminology Life_Stage C89335 A designation assigned to a particular period during a life cycle, generally defined by chronological parameters. Life Stage _ NICHD Pediatric Terminology Lip C12220 Fleshy fold which surrounds the opening of the mouth. Lip _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Lipoma C3192 A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. Lipoma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Lissencephaly C84640 A genetic disorder caused by mutations in the LIS1, XLIS, or TUBA1A genes. It results in brain malformation characterized by the underdevelopment or absence of gyri or ridges in the cerebral cortex. Signs and symptoms include epilepsy and mental retardation. Classical Lissencephaly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Lithium-Induced_Birth_Defects C98974 Congenital abnormalities, mainly cardiovascular malformations, which develop in a fetus when the mother uses lithium medication during pregnancy. Lithium Induced Birth Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Live_Attenuated_Influenza_Vaccine C96402 A vaccine that contains live attenuated influenza virus (LAIV) particles. This vaccine is administered intranasally for influenza prophylaxis. Not all populations are good candidates for LAIV; the very young, elderly, asthmatics and those with health impaired may be better treated with the trivalent inactivated vaccine that is administered intramuscularly. Live Attenuated Influenza Vaccine _ Nasal Spray Flu Vaccine NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Liver_Finding C50634 A finding that indicates abnormal liver function. Liver Dysfunction _ NICHD Pediatric Terminology Neonatal Research Network Terminology Local_Anesthesia_Procedure C81260 The temporary suppression of sensation at a specific region of the body by pharmacological intervention. This type of anesthesia does not induce unconsciousness in the patient. Local Anesthesia Procedure _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Lochial_Flow C78742 Vaginal discharge occurring during the post-partum period. It consists of a mixture of blood, mucus, and placental remnants. Lochia _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Long_Chain_Acyl-CoA_Dehydrogenase_Deficiency C84537 A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. Acyl-CoA Dehydrogenase, Long-Chain Deficiency _ LCAD; Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency NICHD Pediatric Terminology Neonatal Research Network Terminology Long_QT_Syndrome C34786 A ventricular arrhythmia characterized by syncopal episodes and a long QT interval, sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden cardiac death. Long QT Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Longitudinal_Fetal_Presentation C92826 A type of fetal presentation where the fetal spine is aligned along the longitudinal axis of the uterus and descends into the birth canal during delivery. Longitudinal Fetal Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Low_Anorectal_Malformation C98975 Congenital malformations in the anorectal region that include the perineal fistula, anteriorly placed anus, and anorecto-vestibular fistula. Low Anorectal Malformation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Low_Birth_Weight C34724 Refers to a fetus or infant who is smaller than expected for the age or gender, or who has a birthweight less than the 10th percentile. Low Birth Weight _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Low_Blood_Pressure C3128 Any blood pressure that is below the normal expected for an individual in a given environment. Hypotension _ NICHD Pediatric Terminology Neonatal Research Network Terminology Low_Test_Reference_Range C70934 Reported low limit of the test reference range. Low Test Reference Range _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Low_Vision C97175 Reduced ability to perceive visual stimuli. Low Vision _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Lowe_Syndrome C84940 An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction. Oculocerebrorenal Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Lower_Uterine_Segment_Incision C92827 A surgical incision line on the uterus that is transversely cut in relation to the lower uterine segment. Lower Uterine Segment Incision _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Lumbar_Meningocele C101211 A congenital abnormality in the lumbar region of the spine in which the meninges protrude through a defect in the spinal column. Lumbar Meningocele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Lumbar_Myelocele C98976 Herniation of spinal cord tissue and meninges through a defect in the lumbar region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. Lumbar Myelocele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Lumbar_Myelomeningocele C101203 A congenital abnormality in the lumbar region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. Lumbar Myelomeningocele _ Lumbar Meningomyelocele NICHD Pediatric Terminology Neonatal Research Network Terminology Lung_Disorder C3198 A non-neoplastic or neoplastic condition affecting the lung. Representative examples of non-neoplastic conditions include chronic obstructive pulmonary disease and pneumonia. Representative examples of neoplastic conditions include benign processes (e.g., respiratory papilloma) and malignant processes (e.g., lung carcinoma and metastatic cancer to the lung). Lung Disorder _ Disorder of Lung NICHD Pediatric Terminology Neonatal Research Network Terminology Lung_Overinflation C50644 Abnormal permanent enlargement of the lung air spaces distal to terminal bronchiole not resulted from wall destruction, e.g. due to loss of opposite lung. Lung Overinflation _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Lupus_Anticoagulant_Disorder C61283 A syndrome associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses, marked by the presence of antibodies directed against phospholipids. Antiphospholipid Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Lupus_Erythematosus C27153 An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. Lupus Erythematosus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Lymphangioma C8965 A benign neoplasm arising from the lymphatics. The tumor is composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation. Lymphangioma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Lysosomal_Enzyme_Disorder C61250 A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. Lysosomal Storage Disease _ Disorder of Lysosomal Enzymes NICHD Pediatric Terminology Neonatal Research Network Terminology Macrocephaly C35268 An abnormally large head. Causes include hydrocephalus, enlarged brain, and cranial hyperostosis. Macrocephaly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Maiden_Name C25381 A woman's surname before marriage. Maiden Name _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Malabsorption_Syndrome C3214 A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. Malabsorption Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Malaria C34797 A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia. Malaria _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Male C20197 A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. Male _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Male_Reproductive_System_Disorder C27019 A non-neoplastic or neoplastic disorder that affects the male genital system. Representative examples of non-neoplastic disorders include infection, testicular torsion, and undescended testis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma. Male Reproductive System Disorder _ Disorder of Male Reproductive System NICHD Pediatric Terminology Neonatal Research Network Terminology Malignant_Fibromatous_Neoplasm C3043 A malignant mesenchymal tumor affecting soft tissues and bone. It is classified as adult or infantile. Infantile fibrosarcomas generally have a much more favorable prognosis than adult fibrosarcomas. Fibrosarcoma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Malignant_Neoplastic_Disease C9305 A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. Malignant Neoplasm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Malignant_Tumor_of_Kidney_Parenchyma C7548 Primary or metastatic malignant neoplasm involving the kidney. Malignant Renal Neoplasm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Malpresentation_of_Fetus C92793 An abnormal position assumed by the fetus in the birth canal during the childbirth process. Fetal Malpresentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Mannosidosis C61275 A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clincal signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections. Mannosidosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Maple_Syrup_Urine_Disease C34806 An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. Maple Syrup Urine Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Marfan_s_Syndrome C34807 A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. Marfan Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Maternal_Fever C92828 The elevation of body temperature in a pregnant mother above 38 degrees C or more than 101 degrees F, and may be indicative of an infection. Maternal Fever _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Maternal_Hypotension C92829 A decrease in the systolic blood pressure in a pregnant mother for values that are less than 25% of her normal blood pressure levels or arbitrarily, one that is less than 100 mm Hg during pregnancy. Maternal Hypotension _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Maternal_Life_Stage C90337 The period of time during a female's reproductive years that she functions as a mother. Maternal Life Stage _ NICHD Pediatric Terminology Maternal_Obesity C97176 Obesity in a female who has a child. Maternal Obesity _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Maturation C17770 The act, or process, of natural progression in physical and psychological maturation from a previous, lower, or embryonic stage to a later, more complex, or adult stage. Maturation _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Measles C96406 A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR). Rubeola Infection _ Rubeola NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Measles_Mumps_Rubella_Vaccine C96403 A trivalent vaccine containing live attenuated viruses that can cause measles, mumps and rubella. It is an injection administered subcutaneously in two separate doses. Measles/Mumps/Rubella Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Measurement_Device C81182 Any device used to determine the dimension of an object. Measurement Device _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Measurement_of_Amino_Acid C81183 The measurement of the amount of amino acids in a biologic specimen. Amino Acid Measurement _ NICHD Pediatric Terminology Neonatal Research Network Terminology Measurement_of_Hemoglobin_C C92261 The determination of the amount of hemoglobin C present in a sample. Hemoglobin C Measurement _ NICHD Pediatric Terminology Neonatal Research Network Terminology Measuring_Tape C81261 A pliable length of fabric, plastic, paper or some composite that is has incremental lengths imprinted on the surface. Measuring Tape A pliable length of fabric, plastic, paper or some composite marked off in a linear scale, as of inches or centimeters, for taking measurements. NICHD Pediatric Terminology NICHD Newborn Screening Terminology Meckel-Gruber_Syndrome C98978 A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations. Meckel-Gruber Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Meckel_s_Diverticulum C12264 A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction. Meckel Diverticulum _ NICHD Pediatric Terminology Neonatal Research Network Terminology Meconium C78743 The newborn's first intestinal discharge. It is a dark-green, thick substance composed of mucus, intestinal secretions, hair, and intestinal mucosa cells. Meconium _ NICHD Pediatric Terminology Neonatal Research Network Terminology Meconium_Aspiration_Syndrome C87093 A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date. Meconium Aspiration Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Meconium_Peritonitis C102977 Inflammation of the peritoneum due to an infection caused by meconium contamination. Meconium Peritonitis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Meconium_Plug C98980 A transient colonic dysfunction in the newborn characterized by the delayed passage of meconium and associated intestinal dilatation. Meconium Plug Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Mediastinal_Emphysema C98981 The presence of air in the mediastinum. It is caused by injury, most often esophageal or intestinal perforation. Pneumomediastinum Mediastinal emphysema is a condition in which air is present in the mediastinum. It can result from physical trauma or other situations that lead to air escaping from the lungs, airways or bowel into the chest cavity. NICHD Pediatric Terminology Neonatal Research Network Terminology Medical_Record_Number C81262 An identifying number within an institution that is used to reference a subject's medical information. Medical Record Number _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Medication_Given_at_Birth C90603 Pharmacologic agents administered to a neonate at birth. Medication Administered at Birth _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Medium-Chain_Acyl-CoA_Dehydrogenase_Deficiency C84538 A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy. Acyl-CoA Dehydrogenase, Medium-Chain Deficiency _ MCAD; Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency NICHD Pediatric Terminology Neonatal Research Network Terminology Medullary_Sponge_Kidney C34751 A developmental disorder of the kidney characterized by cystic dilatation of the medullary collecting ducts, resulting in a spongy gross appearance of the kidney. It may be asymptomatic or complicated by hematuria, infections, or renal stones. Medullary Sponge Kidney _ NICHD Pediatric Terminology Neonatal Research Network Terminology Medulloblastoma C3222 A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity. Medulloblastoma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Megacystis_Microcolon_Hypoperistalsis_Syndrome C98982 A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract. MMIH Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Melnick-Fraser_Syndrome C98983 An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities. Melnick-Fraser Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Meningitis C26828 A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. Meningitis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Meningocele C101209 A congenital abnormality of the spine in which the meninges protrude through a defect in the spinal column. Meningocele _ Spinal Meningocele NICHD Pediatric Terminology Neonatal Research Network Terminology Meningococcal_Conjugate_Vaccine_MCV-4 C96391 A conjugate vaccine of meningococcal polysaccharide used for active immunization against invasive meningococcal disease caused by Neisseria meningiditis serogroups A, C, Y, and W-135. Meningococcal Conjugate Vaccine MCV4 _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Meningococcal_Polysaccharide_Vaccine_MPSV-4 C96519 A polysaccharide vaccine used to prevent contraction of meningococcal meningitis. Meningococcal Polysaccharide Vaccine MPSV4 _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Menkes_Kinky-Hair_Syndrome C75486 An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair. Menkes Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Menopause C3231 The permanent cessation of menses, usually defined by 6 to 12 months of amenorrhea in a woman over 45 years of age. Menopause _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Mental_Development_Index C81263 A sequential arrangement of information pertaining to the evolution of an individual's cognitive development. Mental Development Index _ NICHD Pediatric Terminology Neonatal Research Network Terminology Mental_Retardation C84392 A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. Mental Retardation _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Mental_Scale C81264 A range of values that characterizes an individual's mental development. Mental Scale _ NICHD Pediatric Terminology Neonatal Research Network Terminology Metabolic_Bone_Disease C97045 A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease. Metabolic Bone Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Metabolic_Disease C3235 A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. Metabolic Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Metabolic_Disease_of_Collagen C75471 A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis. COL1A1 Associated Connective Tissue Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Metabolic_Myopathy C98985 A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. Metabolic Myopathy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Methemoglobin_Reductase_Deficiency C101043 Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin. Methemoglobin Reductase Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Methylcrotonyl-CoA_Carboxylase_Deficiency C98674 An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma. 3-Methylcrotonyl-CoA Carboxylase Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Methylmalonic_Acidemia C98986 A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. Methylmalonic Acidemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Microcephalus C85874 A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. It is the result of brain developmental delay. Microcephaly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Microcolon C98987 A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development. Microcolon _ NICHD Pediatric Terminology Neonatal Research Network Terminology Microcystic_Renal_Disease C75464 A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. Polycystic Kidney Disease _ Multicystic Kidney NICHD Pediatric Terminology Neonatal Research Network Terminology Micrognathism C87094 A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes. Micrognathism _ Congenital_Micrognathism NICHD Newborn Screening Terminology Neonatal Research Network Terminology Microgyria C98988 A congenital abnormality characterized by the presence of abnormally small convolutions in the brain. It results in mental retardation. Microgyria _ NICHD Pediatric Terminology Neonatal Research Network Terminology Microinternational_Unit_per_Milliliter C67405 Unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one millionth of international unit per one milliliter of system volume. Microinternational Unit per Milliliter _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Microphthalmos C98989 A congenital abnormality characterized by the presence of an abnormally small eye globe. Microphthalmos _ NICHD Pediatric Terminology Neonatal Research Network Terminology Middle_Childhood C89347 The time period in a child's life that is generally defined as between 5 and 10 years of life. Middle Childhood A human life stage that begins at six years of age and continues until eleven complete years of age. NICHD Pediatric Terminology Midline_Longitudinal_Incision C92830 A surgical incision line that extends in a midline longitudinal axis of the uterus. Midline Longitudinal Uterine Incision _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Migration_Defects C98990 A diverse group of congenital brain developmental disorders characterized by defects in neuronal migration in the brain during early fetal development. The neuronal migration defects result in brain abnormalities that are usually manifested with mental retardation and epilepsy. Neuronal Migration Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Mild_Uterine_Contractions C92831 An uterine contraction that is barely felt. Mild Uterine Contraction _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Milligram_per_Deciliter C67015 A unit of mass concentration defined as the concentration of one milligram of a substance in unit volume of the mixture equal to one cubic deciliter or 100 cubic centimeters. It is also a unit of mass density (volumic mass) defined as the density of substance which mass equal to one milligram occupies the volume one cubic deciliter or 100 cubic centimeters. Milligram per Deciliter _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Millimole_per_Liter C64387 A unit of concentration (molarity unit) equal to one thousandth of a mole (10E-3 mole) of solute per one liter of solution. Millimole per Liter _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Missed_Period C92832 The absence of a menstrual period based on the expected start date of the menstrual cycle. Missed Menstrual Period _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Mitochondrial_Myopathy C101328 Myopathy caused by mitochondrial abnormalities. Mitochondrial Myopathy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Mitochondrial_Trifunctional_Protein_Deficiency C98991 A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death. Mitochondrial Trifunctional Protein Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Mitral_Valve_Regurgitation C50852 The backward flow of blood from the left ventricle into the left atrium, owing to insufficiency of the mitral valve; it may be acute or chronic, usually due to mitral valve prolapse, rheumatic heart disease or a complication of cardiac dilatation. Mitral Regurgitation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Mitral_Valve_Stenosis C50654 Narrowing of the left atrioventricular mitral orifice. Mitral Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Mixed_Cerebral_Palsy C97177 A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy. Mixed Cerebral Palsy _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Mixed_Hearing_Loss C97178 A combination of conductive and sensorineural losses. Mixed Hearing Loss _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Modality C41147 A specific manner, characteristic, pattern of application or the employment of, any therapeutic agent or method of treatment, especially involving the physical treatment of a condition. Modality _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Molar_Ratio C81268 The relative number of moles of one substance to another in a chemical reaction. Molar Ratio _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Monosomy_13q_Syndrome C98993 A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation. Monosomy 13q Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Montgomery_s_Tubercles C92833 A group of small sebaceous glands that secrete into the areolae of the mother's breast to lubricate the nipple during breastfeeding. Montgomery Tubercle _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Mood_Swing C92937 The fluctuations in the mental and emotional state of an individual during pregnancy. Pregnancy Mood Swing _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Morning_Sickness C92834 The nausea and vomiting that accompanies early pregnancy. Morning Sickness _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Moro_Reflex C81311 An involuntary, primal response in the neonate to loud noise or the feeling of falling. The response is characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and involuntarily flexion of the fingers and toes. Moro Reflex _ NICHD Pediatric Terminology Neonatal Research Network Terminology Morphologically_Abnormal_Structure C35867 A light microscopic finding that describes the cellular characteristics and architectural patterns of cell populations in a tissue sample. Morphologic Finding _ NICHD Pediatric Terminology Neonatal Research Network Terminology Motor_Development C81269 The evolution of physical movement over an individual's lifespan. Motor Development _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Motor_Manifestations C5039 The presence of an alteration in the ability to move one's body or any body parts in accordance with one's intent. Motor Manifestations _ NICHD Pediatric Terminology Neonatal Research Network Terminology Mottling C87095 A patchy appearance of the skin caused by underlying blood vessel changes. Mottling _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Movement_of_Lip_Corners C87096 During examination of the newborn infant, the examiner looks for symmetric movement of the lip corners. Movement of the lip corners is governed by the zygomatic major muscle. Movement of Lip Corners _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Mucocutaneous_Candidiasis C35576 A fungal infection of the skin, nails, oral and vaginal mucosal sites caused by species of the genus Candida. It manifests with white discoloration of the tongue and swelling, redness, and tenderness of the nails. Mucocutaneous Candidiasis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Mucopolysaccharidosis C61259 A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. Mucopolysaccharidosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Mucous_Connective_Tissue C34213 A gelatinous type of connective tissue that is found in the umbilical cord. Mucous Connective Tissue _ Wharton's Jelly NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Mucus_Plug C92752 A mucus plug situated in the maternal cervical os during pregnancy that prevents entry of bacteria into the uterus. Cervical Mucus Plug _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Mullerian_Inhibiting_Factor_Deficiency C101215 A deficiency of the Mullerian inhibiting substance, which is secreted by the Sertoli cells during embryogenesis. It can result in unilateral or bilateral cryptorchidism, testicular regression syndrome and sterility. Mullerian Inhibiting Substance Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Multiple_Birth C81271 A single birthing event that produces two or more offspring. Multiple Birth _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Multiple_Gestation C87097 A pregnancy involving twins or higher-order multiple fetuses (e.g., triplets, quadruplets). Multiple Gestation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Multiple_Hemangiomas C27503 A benign diffuse vascular neoplasm usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling. Angiomatosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Multiple_Pregnancy C92931 A gestation with more than one fertilized egg implanted as a viable fetus in the uterus. Multiple Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Mumps C29888 A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease. Mumps _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Muscle_Tone_Score C81312 A component of the APGAR score, it is the numerical value assigned to an assessment of the residual muscle tension of a neonate. 0 = flaccid; 1 = flexion of extremities; 2 = active motion. Muscle Tone Score _ NICHD Pediatric Terminology Neonatal Research Network Terminology Muscular_Dystrophy C84910 A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy. Muscular Dystrophy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Musculoskeletal_Finding C36288 Symptoms, physical examination results, and/or laboratory test results related to the connective and soft tissue. Connective and Soft Tissue Finding _ NICHD Pediatric Terminology Neonatal Research Network Terminology Musculoskeletal_System_Disorder C27574 Any deviation from the normal structure or function of the musculoskeletal or connective tissue that is manifested by a characteristic set of symptoms and signs. Connective and Soft Tissue Disorder _ Disorder of Musculoskeletal System NICHD Pediatric Terminology Neonatal Research Network Terminology Myasthenia_Gravis C60989 A chronic autoimmune neuromuscular disorder characterized by skeletal muscle weakness. It is caused by the blockage of the acetylcholine receptors at the neuromuscular junction. Myasthenia Gravis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Myelocele C98874 Herniation of spinal cord tissue and meninges through a defect in a region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. Myelocele _ Spinal Meningocele NICHD Pediatric Terminology Neonatal Research Network Terminology Myelomeningocele C101201 A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. Myelomeningocele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Myocardial_Infarction C27996 Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. Myocardial Infarction _ NICHD Pediatric Terminology Neonatal Research Network Terminology Myoclonic_Jerk C34832 A sudden, involuntary contraction of a muscle or group of muscles; these movements may develop as a symptom of a number of neurological diseases including epilepsy, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jacob disease. Myoclonic Jerk _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Myoclonic_Seizure C84796 An epilepsy characterized by myoclonic jerks, generalized tonic-clonic seizures, and sometimes absence seizures. It appears during adolescence. Juvenile Myoclonic Epilepsy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Myopathy C101216 A non-neoplastic disorder that affects the muscles. Representative examples include muscular dystrophy, metabolic myopathies, muscular atrophies, and dermatomyositis. Myopathy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Myotonic_Disorder C84913 An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy. Myotonic Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Myotonic_Dystrophy C84914 An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. Myotonic Dystrophy _ Congenital Myotonic Dystrophy NICHD Pediatric Terminology Neonatal Research Network Terminology NADH_Dehydrogenase_Ubiquinon_Deficiency C98994 A rare metabolic disorder characterized by the deficiency of mitochondrial NADH dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy. NADH Dehydrogenase Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology NICHD_Childhood_Immunization_Terminology C96388 Terminology for concepts associated with immunization in children (birth to 21 years of age) contributed by the National Institute of Child Health and Human Development. NICHD Childhood Immunization Terminology NICHD Pediatric Terminology NICHD_Neurological_Development_Terminology C97150 Terminology for concepts associated with neurological development in children contributed by the National Institute of Child Health and Human Development. NICHD Neurological Development Terminology NICHD Pediatric Terminology NICHD_Newborn_Screening_Terminology C89506 Terminology for concepts associated with neonatal and infant examination contributed by the National Institute of Child Health and Human Development. NICHD Newborn Screening Terminology NICHD Pediatric Terminology NICHD_Pregnancy_and_Childbirth_Terminology C92712 Terminology for concepts associated with Pregnancy, Labor and Delivery contributed by the National Institute of Child Health and Human Development. NICHD Pregnancy and Childbirth Terminology NICHD Pediatric Terminology NICHD_Subset Nanogram_per_Deciliter C67326 A unit of mass concentration defined as the concentration of one nanogram of a substance per unit volume of the mixture equal to one deciliter. The concept also refers to the unit of mass density (volumic mass) defined as the density of substance which mass equal to one nanogram occupies the volume of one deciliter. Nanogram per Deciliter _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Nasal_Congestion C78500 The blockage of the nasal passage due to mucosal edema. It is usually the result of a viral infection or an allergic reaction. Nasal Congestion _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Nasal_Flaring C87099 Enlargement of the nostrils during breathing; although there are many possible causes, it can be a sign of respiratory distress in young infants. Nasal Flaring _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Nasal_Route_of_Administration C38284 Administration of a drug by the way of the nose. This often results in systemic action of the agent due to absorption through the nasal mucosa. The richly supplied vascular nature of the nasal mucosa coupled with its high drug permeation makes the nasal route of administration attractive for many drugs, including proteins and peptides. Nasal Route of Administration _ NICHD Pediatric Terminology Natural_Birth C92932 The process of giving birth vaginally without any surgical intervention. Natural Birth _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Neck C13063 The region that connects the head to the rest of the body. Neck _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Necrotizing_Enterocolitis C84915 A serious, life-threatening disorder characterized by necrotic changes affecting portions of the small and large intestine. It is usually seen in neonates, particularly premature infants. Signs and symptoms include abdominal distention and tenderness, intestinal bleeding and ileus. It may lead to cardiovascular collapse and shock. Necrotizing Enterocolitis _ Necrotizing_Enterocolitis_In_Fetus_Or_Newborn NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Negative_Pregnancy_Test C35450 A finding which indicates an individual is not pregnant. Negative Pregnancy Test _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Neisseria_meningitidis C86605 A species of aerobic, Gram-negative, diplococci shaped bacteria assigned to the phylum Proteobacteria. This species is catalase and oxidase positive, non-hemolytic, non-pigmented, does not reduce nitrate or nitrite, does not synthesize polysaccharides, grows on blood, chocolate, or Muller-Hinton agar, and produces acid from glucose and maltose but not fructose, sucrose, mannose, or lactose. N. meningitidis, known commonly as meningococcus, is the causative agent of cerebrospinal meningitis, but is also associated with other human infections, but can be commensal in the oropharynx and nasopharynx of carriers. Neisseria meningitidis _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Neonatal_Abstinence_Syndrome C87101 A constellation of signs and symptoms observable in a neonate that are consistent with maternal narcotic abuse or withdrawal while pregnant. Neonatal Abstinence Syndrome _ NAS NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Abstinence_Syndrome_Assessment C89515 The measurement of the degree to which a neonate is experiencing symptoms of withdrawal due to maternal substance abuse; the score can be used to determine subsequent treatment of the infant. Neonatal Abstinence Syndrome Assessment _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Acrocyanosis C99253 Transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn. Neonatal Acrocyanosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Adrenoleukodystrophy C99251 A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma. Neonatal Adrenoleukodystrophy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Aspiration_of_Amniotic_Fluid C101028 Inhalation of fluid from the amniotic sac into the lungs by the neonate. Neonatal Aspiration of Amniotic Fluid _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Diabetes_Mellitus C99248 Transient or permanent diabetes mellitus that affects neonates. It is caused by the inability of the pancreas to secrete sufficient insulin in response to elevated levels of glucose in the blood. The transient diabetes mellitus lasts for weeks or months and may return in adolescence or in adulthood. The permanent diabetes mellitus does not disappear and is caused by mutations in the KCNJ11, GCK, and IPF1 genes. Neonatal Diabetes Mellitus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Disorder C98996 A non-neoplastic or neoplastic disorder which occurrs during the neonatal period. Neonatal Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Hepatitis C84446 Hepatitis developing during the neonatal period. Neonatal Hepatitis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Hyperbilirubinemia C99235 Increased levels of bilirubin in the blood during the neonatal period. In the majority of cases it is seen in the first week of life and usually there is no underlying disease, however, it may also occur in hemolytic diseases, infections, metabolic disorders, and liver abnormalities. Neonatal Hyperbilirubinemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Hypoglycemia C99237 Hypoglycemia that occurs during the neonatal period. Causes include inadequate hepatic glycogen stores, inadequate lipid stores, or inadequate amino acid muscle stores. Signs and symptoms include tachypnea, respiratory distress, tachycardia or bradycardia, lethargy, and seizures. Neonatal Hypoglycemia Hypoglycemia is a condition that occurs during the neonatal period, when there is abnormally diminished content of glucose in the blood (below 70 mg/dL ). NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Infectious_Disorder C99231 An infectious disorder that occurs during the neonatal period. Representative examples include streptococcal infection, E.coli infection, and bacterial meningitis. Neonatal Infectious Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Jaundice C99246 Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma. Neonatal Jaundice _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Jaundice_due_to_Delayed_Conjugation_from_Breast_Milk_Inhibitors C98846 Jaundice in an otherwise healthy breast-fed newborn. It appears four to seven days after birth, lasts longer than the physiologic jaundice, and there are no identifiable causes. Breast Milk Jaundice _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Lupus_Erythematosus C99236 A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. Neonatal Lupus Erythematosus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Opiate_Withdrawal_Syndrome C99255 A withdrawal syndrome that presents during the neonatal period and is caused by opioids abuse by the mother during pregnancy or abrupt discontinuation of opioid analgesics that are administered to the baby. It manifests with central nervous system abnormalities, vasomotor abnormalities, and respiratory abnormalities. Neonatal Opiate Withdrawal Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Research_Network_Terminology Cxxxxx Terminology developed to support the efforts of the Neonatal Research Network Neonatal_Research_Network_Terminology Terminology for concepts associated with neonatal research contributed by four neonatal research networks: Vermont-Oxford Network (VON), Children's Hospital of Philadelphia (CHOP), NICHD Neonatal Research Network (NICHD-NRN) and NICHD Pediatric Terminology. NRNT NICHD Pediatric Terminology Neonatal_Respiratory_Distress_Syndrome C27560 A condition of the newborn marked by dyspnea with cyanosis, most frequently occurring in premature infants, children of diabetic mothers and infants delivered by cesarean section, and sometimes with no predisposing cause. Neonatal Respiratory Distress Syndrome _ Respiratory_Distress_Syndrome_in_the_Newborn NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Neonatal_Respiratory_System_Disorder C99232 A respiratory system disorder that occurs during the neonatal period. A representative example is the respiratory distress syndrome. Neonatal Respiratory System Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Rickets C99233 Rickets that usually affects premature infants. Factors that contribute to the development of neonatal rickets include calcium, phosphorus, or calciferol deficiency. It manifests with spontaneous fractures, respiratory distress, and growth developmental delays. Neonatal Rickets _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neonatal_Stage C89887 The period at birth when a newborn is born after the full gestational period. Full Term Neonatal Stage A human life stage that begins at full term birth and continues until twenty-seven complete days of age. Term Neonatal Stage NICHD Pediatric Terminology Neonatal_Thrombocytopenia_due_to_Platelet_Alloimmunization C101200 Thrombocytopenia that is a result of incompatibilities between the platelets of the mother and the fetus. Neonatal Alloimmune Thrombocytopenia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neoplasm C3262 A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. Neoplasm _ Neoplastic_Disease NICHD Pediatric Terminology Neonatal Research Network Terminology Neoplasm_of_Bone_Marrow C35370 Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow). Bone Marrow Neoplasm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neoplasm_of_Heart C3081 A benign or malignant, primary or metastatic neoplasm affecting the heart. Cardiac Neoplasm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neoplasm_of_Nervous_System C3268 A benign or malignant, primary or metastatic neoplasm involving the central or peripheral nervous system. Nervous System Neoplasm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Nephroblastoma C40407 An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. Renal Wilms Tumor _ NICHD Pediatric Terminology Neonatal Research Network Terminology Nephrotic_Syndrome C34845 A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. Nephrotic Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Nervous_System_Disorder C26835 A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. Nervous System Disorder _ Disorder of Nervous System; Neurologic_Disorder NICHD Neurological Development Terminology Neonatal Research Network Terminology Neural_Tube_Defect C84923 A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. Neural Tube Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neuroblastoma C3270 A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation. Neuroblastoma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neurocutaneous_Syndrome C84348 A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome. Phakomatosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neurodevelopmental_Disorder C89338 A childhood affliction that has a neurological basis and manifests as a developmental disability. Neurodevelopmental Disorder _ NICHD Pediatric Terminology Neuroendocrine_Tumor C3809 A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma. Neuroendocrine Neoplasm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neurofibromatosis_Syndrome C6727 An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas. Neurofibromatosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neurological_Examination C81313 The assessment of the functionality of the brain, spinal column, and nerves. Neurologic Examination _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neurological_Finding C3837 A term that refers to the clinical manifestations resulting from pathologic processes that affect the central and peripheral nervous system. Neurological Signs and Symptoms _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neurological_Screening C89339 A specific type of neurologic examination for early detection of disease(s) and/or disorder(s). Neurological Screening _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neuromuscular_Maturity_Assessment C89516 An examination of the following neonatal attributes: 1) posture; 2) the "square window" (how far the baby's hands can be flexed toward the wrist); 3) arm recoil; 4) "popliteal angle" (how far the baby's knees extend); 5) "scarf sign" (how far the baby's elbows can be moved across the chest); and 6) "heel to ear" (how far the baby's feet can be moved to the ears). It is a subscore of the Dubowitz/Ballard Examination for Gestational Age. Neuromuscular Maturity Assessment _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neuropathy C4731 A disorder affecting the cranial nerves or the peripheral nervous system. It is manifested with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. Neuropathy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neutral_1_Amino_Acid_Transport_Defect C84748 An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia. Hartnup Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Neutral_Fetal_Attitude C92835 A position of the fetus during the labor and delivery process where the fetal chin is mildly flexed but with a forward facing head. Neutral Fetal Attitude _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Newborn C16731 An infant during the first month after birth. Newborn _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Newborn_Behavioral_Examination C81314 The assessment of behavior in neonates. Newborn Behavioral Examination _ NICHD Pediatric Terminology Neonatal Research Network Terminology Newborn_Blood_Pressure C87105 The systolic and diastolic blood pressure of the newborn upon examination; the normal range of the systolic blood pressure is 60 - 90, while the normal range of the diastolic blood pressure is 20-60. Newborn Blood Pressure _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Newborn_Examination C84749 A general assessment of the overall health of a newborn. Newborn Examination _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Newborn_Heart_Rate C87103 The number of heartbeats of the newborn per minute; the normal range is 100 - 180 heartbeats per minute. Newborn Heart Rate _ NICHD Pediatric Terminology Neonatal Research Network Terminology Newborn_Motor_Scale C81270 A range of values used to quantify newborn motor development. Newborn Motor Scale _ Motor_Assessment_Scale NICHD Newborn Screening Terminology Neonatal Research Network Terminology Newborn_Respiratory_Rate C87104 The number of inhalations and exhalations of the newborn per minute; the normal range is 30 - 60 breaths per minute. Newborn Respiratory Rate _ NICHD Pediatric Terminology Neonatal Research Network Terminology Newborn_Screening C81178 A specific type of newborn examination performed to allow for early detection of disease(s) and/or disorder(s). Newborn Screening _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology No C49487 The non-affirmative response to a question. No _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Non-Ketotic_Hyperglycinemia C84937 An autosomal recessive inherited metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures. Glycine Encephalopathy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Non-Stress_Test C92836 A non-invasive test usually done during the third trimester to check for fetal well being. It is performed using an external fetal heart rate monitor to assess the fetal heart rate response to fetal movements. Obstetric Non-Stress Test _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Nonaccidental_Trauma C101034 An injury that is not the result of an accident or natural causes. Intentional Trauma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Noonan_s_Syndrome C34854 A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. Noonan Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Normal_Pregnancy C92933 A pregnancy that is normal for both the mother and the fetus. Normal Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Normal_Reference_Range C78727 Reported values within the typical or expected range. Normal Reference Range _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Normal_Spontaneous_Vaginal_Delivery C94835 A process of birthing whereby the fetus is born unaided by medical inducements or surgical intervention and without complication. Normal Spontaneous Vaginal Delivery _ Normal Delivery NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Norplant_Subdermal_Birth_Control_Implant C92891 A subdermal implant incorporating silastic tubing containing levonorgestrel designed to administer a continuous dose of progestins for pregnancy contraception. Subdermal Birth Control Implant A contraceptive device incorporating silastic tubing containing levonorgestrel designed to administer a continuous dose of progestins for pregnancy contraception, that is surgically placed under the skin NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Nose C12756 A structure of special sense serving as an organ of the sense of smell and as an entrance to the respiratory tract. Nose _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Nuchal_Translucency_Screen C92837 An ultrasonic examination of the fetus to confirm gestational age by assessing and measuring for the clear space at the back of the fetal neck using external calipers. Nuchal Translucency Screen _ nuchal fold scan NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Numeric_Value C81274 Information in the form of a numeral contained in a data field. Numeric Value _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Nutrition C28294 That which is consumed to fuel necessary life processes of an organism. Nutrition _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Nutritional_Disorder C26836 Any condition related to a disturbance between proper intake and utilization of nourishment. Nutritional Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology OEIS_Syndrome C99142 A rare combination of congenital abnormalities that includes omphalocele, cloacal exstrophy, imperforate anus, and spine abnormalities. OEIS Complex _ NICHD Pediatric Terminology Neonatal Research Network Terminology Oblique_Fetal_Presentation C92838 A fetal position during delivery in which the spine of the fetus is not aligned with the mother's resulting in the descent into the birth canal in an oblique position. Oblique Fetal Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Observation C25598 Watching something and taking note of what happens. Observation _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Observational_Result C70856 An outcome of observation represented as a text, qualitative, or quantitative parameter, code, image, graph, etc. Observation Result NICHD Pediatric Terminology Obsessive-Compulsive_Disorder C88411 A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety. Obsessive Compulsive Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Obstetric_Procedure C89340 Any pregnancy or childbirth related procedure associated with a mother during her reproductive years. Obstetric Procedure NICHD Pediatric Terminology Obstruction_of_Pelviureteric_Junction C99007 A usually congenital abnormality characterized by the partial obstruction of the junction between the renal pelvis and ureter. It may lead to hydronephrosis. Pelviureteric Junction Obstruction _ NICHD Pediatric Terminology Neonatal Research Network Terminology Oligohydramnios C92839 A lower than normal volume of amniotic fluid observed by ultrasound during pregnancy. Oligohydramnios _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Oligohydramnios_Sequence C40435 A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. Potter Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology One_Minute_After_Birth C81227 The actual time that is one minute after the birth of a fetus. This period is most commonly referenced during the administration of the APGAR test. One Minute After Birth _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Oophorectomy C15291 Partial or complete removal of one or both of the ovaries. Oophorectomy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Oral_Cavity C12421 The cavity located at the upper end of the alimentary canal, behind the teeth and gums that is bounded on the outside by the lips, above by the hard and soft palates and below by the tongue. Oral Cavity _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Oral_Contraceptive C389 An agent taken orally to prevent conception. Oral Contraceptive _ Pill NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Oral_Polio_Vaccine C96401 A vaccine that contains live attenuated polio virus. It is administered orally as polio prophylaxis in many areas of the world, but not in the U.S. since 2000. Oral Polio Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Oral_Route_of_Administration C38288 The introduction of a substance to the mouth or into the gastrointestinal tract by the way of the mouth, usually for systemic action. It is the most common, convenient, and usually the safest and least expensive route of drug administration, but it uses the most complicated pathway to the tissues and bioavailability varies. The disadvantages of method are hepatic first pass metabolism and enzymatic degradation of the drug within the gastrointestinal tract. This prohibits oral administration of certain classes of drugs especially peptides and proteins. Oral Route of Administration NICHD Pediatric Terminology Orbital_Cellulitis C99000 An acute bacterial infectious process that affects the tissues surrounding the eye, including the eyelids, the eyebrow, and the cheek tissues. It is usually caused by Haemophilus influenza, Staphylococcus aureus, Streptococcus pneumoniae, and beta-hemolytic streptococci. Signs and symptoms include swelling and pain of the eyelids, pain in the eye, painful eye movements, decreased vision, and fever. It is a serious condition that requires immediate medical attention. Orbital Cellulitis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Organic_Acid_Metabolism_Disorder C101334 An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. Organic Acid Metabolism Disorder _ Disorder of Organic Acid Metabolism NICHD Pediatric Terminology Neonatal Research Network Terminology Organism C14250 A living entity. Organism NICHD Pediatric Terminology Organismal_Process C19988 A biologic function, activity, or process involving either specialized organ functions, individual organs, organ systems, body parts, or whole organisms. Organismal Process NICHD Pediatric Terminology Ornithine_Carbamoyltransferase_Deficiency C84957 An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma. Ornithine Carbamoyltransferase Deficiency Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Oromandibular-Limb_Hypogenesis_Spectrum C84893 A very rare congenital syndrome affecting the sixth and seventh cranial nerves. It is characterized by facial paralysis leading to lack of facial expression and the inability to move the eyes laterally. Mobius Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ortolani_Maneuver C89517 When testing for congenital dislocation of the hip, this is the result obtained when the examiner gently abducts the hip while pushing upward on the greater trochanter. If the hip is dislocated, it will relocate with an audible clunk, which is a positive result for this test. Ortolani Maneuver _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Osteogenesis_Imperfecta C26837 A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones. Osteogenesis Imperfecta _ Congenital Anomaly of Skeletal Bone NICHD Pediatric Terminology Neonatal Research Network Terminology Osteogenesis_Imperfecta_Type_I C99003 The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal. Osteogenesis Imperfecta Type I _ NICHD Pediatric Terminology Neonatal Research Network Terminology Osteogenesis_Imperfecta_Type_II C99001 A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities. Osteogenesis Imperfecta Type II _ NICHD Pediatric Terminology Neonatal Research Network Terminology Osteogenesis_Imperfecta_Type_III C99002 A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face. Osteogenesis Imperfecta Type III _ NICHD Pediatric Terminology Neonatal Research Network Terminology Osteogenesis_Imperfecta_Type_IV C98576 A type of osteogenesis imperfecta that is characterized by fractures and hearing loss. It is more severe than type I and less severe than types II and III. Osteogenesis Imperfecta Type IV _ NICHD Pediatric Terminology Neonatal Research Network Terminology Osteopenia_of_Prematurity C50910 Decreased calcification or density of bone tissue. Osteopenia _ Osteopenia NICHD Pediatric Terminology Neonatal Research Network Terminology Other C17649 Different than the one(s) previously specified or mentioned. Other _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Ounce C48519 The traditional unit of mass. The avoirdupois ounce is equal to 1/16 pound, or 28.3495 grams, or 0.911 457 troy ounce. Ounce _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Ovalocytosis C36293 A peripheral blood finding in which a large number of erythrocytes are shaped in a slightly oval-shaped form. Ovalocytosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ovarian_Cyst C3300 A cyst that arises from the ovary. Representative examples include simple, complex, corpus luteum, and endometrioid cysts. Symptoms include pelvic and abdominal pain and irregular periods. Ovarian Cyst _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ovarian_Pregnancy C92945 An ectopic pregnancy of unknown etiology that occurs in the ovary instead of the uterine corpus. It may result in severe intra-abdominal bleeding. Ovarian Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Ovarian_Torsion C99084 Twisting of the ovary resulting in the cutoff of the blood supply to the ovary. It may develop in an enlarged or normal ovary and in the vast majority of cases is unilateral. Signs and symptoms include acute lower abdominal pain, nausea, vomiting, and fever. Ovarian Torsion _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ovulation C66849 The discharge of a secondary oocyte from a vesicular follicle of the ovary. Ovulation _ Release of Egg NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Oxygen_Saturation_Measurement C60832 The determination of oxygen-hemoglobin saturation of blood either by withdrawing a sample and passing it through a classical photoelectric oximeter or by electrodes attached to some translucent part of the body like finger, earlobe, or skin fold. It includes non-invasive oxygen monitoring by pulse oximetry. Oxygen Saturation Measurement _ NICHD Pediatric Terminology Neonatal Research Network Terminology Oxytocin C2283 Oxytocin (125 aa, ~13kDa) is encoded by the human OXT gene. This protein plays a role in smooth muscle contraction in both the mammary gland and uterus. Oxytocin also is involved in maternal-newborn bonding, cognition and many other psychological and physiological processes. Oxytocin _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Pain C3303 The sensation of discomfort, distress, or agony, resulting from the stimulation of specialized nerve endings. Pain _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Pallister-Killian_Syndrome C75458 A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin. Pallister-Killian Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pallor C50685 An unusual or extreme paleness, state of decreased skin coloration. Pallor _ On_Examination_-_Color_Pale NICHD Pediatric Terminology Neonatal Research Network Terminology Panhypopituitarism C62591 A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. Hypopituitarism _ NICHD Pediatric Terminology Neonatal Research Network Terminology Panic_Disorder_with_Agoraphobia C97194 A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder. Panic Disorder with Agoraphobia _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Panic_Disorder_without_Agoraphobia C97193 A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder. Panic Disorder without Agoraphobia _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Pap_Smear C17348 A sample of secretions and superficial cells of the body of uterus, cervix, and ovaries; examined with a microscope to detect any abnormal cells. Papanicolaou Smear Procedure _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Paralysis_of_Diaphragm C99017 Damage to the phrenic nerve that results in paralysis of the hemidiaphragm. Phrenic Nerve Palsy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Paralytic_Syndrome C3310 Partial or complete loss of function of one or more muscles. It is usually caused by damage to the nervous system. Paralysis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Parasitic_Disease C27864 A successful invasion of a host by an organism that uses the host for food and shelter. Parasitic Infection _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Parenteral_Route_of_Administration C38291 Administration of a substance by some means other than through the gastrointestinal tract: usually through injection, infusion, or implantation. Predominantly, the drug action is systemic, but in some cases, it is confined to local area. Parenteral Route of Administration _ NICHD Pediatric Terminology Partial_Anomalous_Pulmonary_Venous_Connection C99004 A congenital heart disorder in which one or two pulmonary veins are not connected to the left atrium and drain into the right atrium instead. It may lead to arrhythmias and pulmonary hypertension. Partial Anomalous Pulmonary Venous Return _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pass C81275 One of two possible results of a pass/fail assessment; when the result satisfies a condition. Pass _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Passing_of_Mucus_Plug C92840 A discharge of the mucus plug from the cervical os during cervical dilation in preparation for the labor and delivery of the baby. Passing of Mucus Plug _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Patent_Ductus_Arteriosus C84492 A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure. Patent Ductus Arteriosus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Patent_Urachus C99005 A congenital abnormality that results from the failure of the lumen of urachus to be obliterated. It presents with leakage of urine from the bladder through the umbilicus. Patent Urachus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pediatric_Disease_or_Disorder C89328 A non-neoplastic or neoplastic disorder which occurs during childhood. Pediatric Disorder _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Pediatric_Intervention_or_Procedure C90341 A diagnostic or therapeutic course of action usually performed on patients under the age of 18. Pediatric Intervention or Procedure _ NICHD Pediatric Terminology Pena-Shokeir_Phenotype C99008 An autosomal recessive inherited disorder. It is characterized by arthrogryposis, facial anomalies, polyhydramnios, camptodactyly, intrauterine growth retardation, and pulmonary hypoplasia. Pulmonary hypoplasia is present in the vast majority of cases and is often the fatal component of this syndrome. Pena-Shokeir Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pentalogy_of_Cantrell C99011 A rare syndrome characterized by the presence of omphalocele, anterior diaphragmatic hernia, sternal cleft, ectopia cordis, and ventricular septal defect or left ventricle diverticulum. Pentalogy of Cantrell _ NICHD Pediatric Terminology Neonatal Research Network Terminology Perforation_of_Esophagus C50693 The presence of a hole or other type of opening in the esophageal wall through which the contents of the esophagus can pass into the mediastinum. The most common cause of esophageal perforation is injury during a medical procedure such as esophagoscopy or placement of a naso-gastric tube; and pathologic process such as neoplasm or gastric reflux with ulceration. Less common causes include injuries from penetrating or blunt trauma or injury to the esophagus during an operation on another organ, mechanical problem such as violent retching or vomiting; ingestion of a foreign body or caustic agents. The condition often results in infection of the mediastinum and mediastinitis. Esophageal Perforation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Perforation_of_Ileum C78355 A rupture in the ileal wall due to traumatic or a pathologic processes. Ileal Perforation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Perforation_of_Intestine C39611 A rupture in the wall of the small or large intestine due to traumatic or pathologic processes. Intestinal Perforation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Periauricular_Tag C98919 A small preauricular skin tag. Ear Tag _ Ear Tag NICHD Pediatric Terminology Neonatal Research Network Terminology Pericardial_Anomaly C101327 Any abnormality involving the pericardium. Pericardial Anomaly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pericardial_Effusion C3319 Fluid collection within the pericardial sac, usually due to inflammation. Pericardial Effusion _ NICHD Pediatric Terminology Neonatal Research Network Terminology Perinatal_Aspiration_of_Blood C101320 Respiratory distress in the newborn due to inhalation of blood; this is an unusual event and is sometimes linked to the non passage of meconium before delivery or mothers with antepartum hemorrhage. Blood Aspiration Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Perinatal_Cyanotic_Attack C103191 Episodes of cyanosis during the perinatal period. Perinatal Cyanotic Attack _ NICHD Pediatric Terminology Neonatal Research Network Terminology Perinatal_Death C92841 The death of an infant before birth after 28 weeks of gestation or shortly after birth. Perinatal Death _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Perinatal_Disorder C35095 A non-neoplastic or neoplastic disorder occurring during the period from about five months before birth to one month after birth. Perinatal Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Perinatal_Drug_Withdrawal C99258 Withdrawal signs and symptoms that present during the perinatal period and are caused by drug use by the pregnant mother. Perinatal Drug Withdrawal _ NICHD Pediatric Terminology Neonatal Research Network Terminology Perinatal_Intracranial_Hemorrhage C99261 Intracranial hemorrhage that occurs in the perinatal period. Perinatal Intracranial Hemorrhage _ NICHD Pediatric Terminology Neonatal Research Network Terminology Perinatal_Intraventricular_Hemorrhage C101324 Bleeding within the ventricles of the brain during the perinatal period. Perinatal Intraventricular Hemorrhage _ NICHD Pediatric Terminology Neonatal Research Network Terminology Perinatal_Jaundice_due_to_Inspissated_Bile_Syndrome C103228 Yellow pigmentation of the skin, mucous membranes and eyes due to hyperbilirubinemia caused by inspissated bile plugs in the bile ducts during the perinatal period. Perinatal Jaundice due to Inspissated Bile Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Perinatal_Respiratory_Distress C103190 A pathological increase in the effort and frequency or breathing movements during the perinatal period. Perinatal Respiratory Distress _ NICHD Pediatric Terminology Neonatal Research Network Terminology Perinatal_Subependymal_Hemorrhage_with_Intraventricular_and_Intracerebral_Extension C103187 A subependymal hemorrhage that involves the cerebral hemispheres and ventricles and occurs in the perinatal period. Perinatal Subependymal Hemorrhage with Intraventricular and Intracerebral Extension _ NICHD Pediatric Terminology Neonatal Research Network Terminology Peripheral_Nervous_System_Disorder C27580 A non-neoplastic or neoplastic disorder that affects the peripheral nervous system. Peripheral Nervous System Disorder _ Disorder of Peripheral Nervous System; Peripheral Nerve Disease NICHD Pediatric Terminology Neonatal Research Network Terminology Periventricular_Leukomalacia C99013 Necrosis and softening of the white matter around the ventricles in the brain. It is usually seen in preterm infants and caused by lack of blood flow and oxygenation in the periventricular brain parenchyma. Periventricular Leukomalacia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Peroxisomal_Function_Disorder C85005 A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. Peroxisomal Disorder _ Disorder of Peroxisomal Function NICHD Pediatric Terminology Neonatal Research Network Terminology Persistent_Cloaca C99014 A congenital abnormality in which the rectum, vagina, and urethra fuse and form a common channel. Persistent Cloaca _ NICHD Pediatric Terminology Neonatal Research Network Terminology Persistent_Fetal_Bradycardia C92842 A decrease in the fetal heart beat rate below 110 per minute or below the normal baseline value expected for the particular fetal age for a period of more than 10 minutes. Persistent Fetal Bradycardia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Persistent_Fetal_Tachycardia C92843 An increase in the fetal heart rate above the expected normal baseline values for an extended period. Persistent Fetal Tachycardia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Persistent_Pulmonary_Hypertension_of_the_Newborn C85006 A cardiopulmonary syndrome characterized by hypoxemia due to increased pulmonary vascular resistance and subsequent right-to-left shunting of the blood through the foramen ovale and ductus arteriosus. Persistent Fetal Circulation Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Person C25190 A human being. Person NICHD Pediatric Terminology Person_Name C25191 A word or group of words indicating the identity of a person usually consisting of a first (personal) name and a last (family) name with an optional middle name. In some cultural traditions the family name comes first. Person Name _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Personal_Information C90492 Data, facts or figures about an individual; the set of relevant items would depend on the use case. Personal Information _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Personal_Medical_History C18772 A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies. Personal Medical History _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Pervasive_Developmental_Disorder C97179 A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions. Pervasive Developmental Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Pharmacologic_Substance C1909 Any natural, endogenously-derived, synthetic or semi-synthetic compound with pharmacologic activity. A pharmacologic substance has one or more specific mechanism of action(s) through which it exerts one or more effect(s) on the human or animal body. They can be used to potentially prevent, diagnose, treat or relieve symptoms of a disease. Formulation specific agents and some combination agents are also classified as pharmacologic substances. Pharmacologic Substance _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Phenylalanine_Measurement C81280 The measurement of the amount of phenylalanine in a biologic specimen. Phenylalanine Measurement _ NICHD Pediatric Terminology Neonatal Research Network Terminology Phenylalanine_to_Tyrosine_Ratio_Measurement C81281 The determination of the ratio of phenylalanine compared to tyrosine present in a sample. The measurement may be expressed as a ratio or percentage. Phenylalanine to Tyrosine Ratio Measurement _ Phenylalanine/Tyrosine_Ratio_Measurement NICHD Newborn Screening Terminology Neonatal Research Network Terminology Phenylketonuria C81315 A disorder characterized by the body's inability to break down and utilize the essential amino acid phenylalanine. Phenylketonuria _ Classical_Phenylketonuria; PKU NICHD Newborn Screening Terminology Neonatal Research Network Terminology Phocomelia C34928 A congenital malformation in which the upper portion of a limb is either shortened or absent. Phocomelia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Phosphoenolpyruvate_Carboxykinase_GTP_Deficiency C99015 A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly. Phosphoenolpyruvate Carboxykinase Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Physical_Examination C20989 A systemic evaluation of the body and it's functions using visual inspection, palpation, percussion and auscultation. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. Physical Examination _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Physical_Maturity_Assessment C89518 An examination of the following neonatal attributes: 1) skin texture; 2) lanugo; 3) plantar creases; 4) breast; 5) eyes and ears; 6) genitals, male; and 7) genitals, female. It is a subscore of the Dubowitz/Ballard Examination for Gestational Age. Physical Maturity Assessment _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Physical_Symmetry C81316 A physical attribute of visual balance and proportion between opposing structures. Physical Symmetry _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Physiologic_Lightening C92844 A physical feeling of being able to breathe better during late trimester of pregnancy when the baby starts to descend lower into the pelvic cavity. Physiologic Lightening _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Placement C41148 Position or arrangement, as of the teeth; the state of being placed or arranged, as the assignment of a person to a appropriate clinical study. Placement _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Placenta_Previa C26858 A condition in which the placenta is implanted in the lower part of the uterus. --2003 Placenta Previa _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Placental_Abruption C26685 The separation of the placenta from the maternal uterine attachment when it occurs after the twentieth week of the pregnancy. Premature Separation of Placenta _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Placental_Separation C92854 A process in childbirth in which the placenta separates from its uterine lining, after the delivery of the baby. Postpartum Placental Separation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Plantar_Grasp_Reflex_Finding C43247 A reflex characterized by upward movement of the great toe and an outward movement of the rest of the toes, when the sole of the foot is stroked. It is a normal reflex up to the age of two. Its presence beyond that age indicates neurological damage. Babinski Sign _ NICHD Pediatric Terminology Neonatal Research Network Terminology Plethoric_Face C99018 A finding that refers to a person with erythematous face. Plethoric Face _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pleural_Effusion C3331 Increased amounts of fluid within the pleural cavity. Symptoms include shortness of breath, cough, and chest pain. It is usually caused by lung infections, congestive heart failure, pleural and lung tumors, connective tissue disorders, and trauma. Pleural Effusion _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pneumococcal_10-valent_Conjugate_Vaccine C97120 An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It is indicated for disease caused by serotypes 1, 5, 4, 6B, 7, 9V, 14, 18C, 19F, and 23F. Pneumococcal 10-valent Conjugate Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Pneumococcal_13-valent_Conjugate_Vaccine C97121 An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It is indicated for disease caused by serotypes 1, 3, 4, 5, 6A, 6B, 7F, 9V, 14, 18C, 19A, 19F and 23F. It can also be used to prevent against otitis media by serotypes 4, 6B, 9V, 14, 18C, 19F, and 23F. Pneumococcal 13-valent Conjugate Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Pneumococcal_23-valent_Polysaccharide_Vaccine C1643 An polyvalent vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. Pneumococcal polyvalent vaccine contains highly purified capsular antigens from the 23 most prevalent or invasive pneumococcal types of Streptococcus pneumoniae to ensure cross-protection. Following vaccination, protective capsular type-specific antibody levels typically develop by the third week; serotype-specific antibody levels generally decline after 5-10 years. Pneumococcal Polyvalent Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Pneumococcal_7-Valent_Conjugate_Vaccine C38141 An active immunizing agent used to prevent infection by the bacterium Streptococcus pneumoniae. Pneumococcal 7-valent conjugate vaccine consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes 4, 6B, 9V, 14, 18C, 19F, and 23F individually conjugated to diphtheria CRM 197 protein. Pneumococcal 7-Valent Conjugate Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Pneumococcal_Conjugate_Vaccine C97123 An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes individually conjugated to proteins. Pneumococcal Conjugate Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Pneumonia C3333 An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, due to infections (viruses, fungi, mycoplasma, or bacteria), treatment (e.g. radiation), or exposure (inhalation) to chemicals. Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness. Pneumonia _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Pneumopericardium C99019 The presence of air in the pericardial cavity. Causes include chest injury in adults, and respiratory distress syndrome in infants. Pneumopericardium _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pneumoperitoneum C99012 The presence of air in the peritoneal cavity. Causes include perforated peptic ulcer, perforated bowel, and trauma. Pneumoperitoneum _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pneumothorax C38006 Abnormal presence of air in the pleural cavity. Pneumothorax _ NICHD Pediatric Terminology Neonatal Research Network Terminology Point_in_Time_Test_Given C81297 The hour, minute, and/or second that an examination was administered. Point in Time Test Given _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Poland_Anomaly C85017 A rare developmental disorder characterized by underdevelopment or absence of the pectoralis muscle in one side of the chest, usually associated with ipsilateral cutaneous syndactyly, and ipsilateral breast and nipple hypoplasia. Poland Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Polio_Vaccination C96409 The administration a series of either live or inactivated poliovirus for the prophylaxis of poliomyelitis. Polio Vaccination _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Poliomyelitis C35550 An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine. Acute Poliomyelitis _ Polio NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Poliovirus C14259 An enterovirus comprised of an single-stranded positive sense RNA genome and a protein capsid. This virus is the human pathogen that causes poliomyelitis. Poliovirus _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Polycystic_Kidney_Disease_Infantile_Type C84579 Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6. Autosomal Recessive Polycystic Kidney Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Polycystic_Ovary_Syndrome C92847 A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity. Polycystic Ovary Syndrome _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Polycythemia_Vera C3336 A chronic myeloproliferative neoplasm characterized by an increased red blood cell production. Excessive proliferation of the myeloid lineage is observed as well. The major symptoms are related to hypertension or to vascular abnormalities caused by the increased red cell mass. The cause is unknown. With currently available treatment, the median survival exceeds 10 years. (WHO, 2001) Polycythemia Vera _ NICHD Pediatric Terminology Neonatal Research Network Terminology Polydactyly C87110 A congenital abnormality characterized by more than 5 digits on a hand or foot. Polydactyly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Polyhydramnios C92848 An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Polyhydramnios _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Polyostotic_Fibrous_Dysplasia_of_Bone C34610 A genetic syndrome caused by mutations in the GNAS1 gene. It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation. Polyostotic Fibrous Dysplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Polyploidy_Syndrome C3338 A numerical chromosomal abnormality characterized by the presence of more than two sets of chromosomes. Polyploidy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Polysaccharide_Vaccine C97125 A category of vaccines that use the extracted and purified outer polysaccharide coat of the particular bacteria. Polysaccharide Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Polyvalent_Vaccine C2848 A vaccine designed to elicit an immune response either to more than one infectious agent or to several different antigenic determinants of a single agent. Polyvalent Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Poor_Feeding C87111 Occurs either when an infant shows no interest in feeding or when there is an inability to take in adequate nutrition. Poor feeding is a nonspecific symptom of many disorders, including neurological, genetic, structural, metabolic, and infectious diseases. Poor Feeding _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Popliteal_Angle_Measurement C89519 An examination whereby the patient is placed supine, the hip is flexed 90 degrees, and the knee is extended until firm resistance is met. The popliteal angle is the angle from the tibia to the femur. This measurement is used to assess hamstring contracture in children with cerebral palsy. Popliteal Angle Measurement _ NICHD Pediatric Terminology Neonatal Research Network Terminology Porencephalic_Cyst C99020 A congenital or acquired cystic cavity within the cerebral hemisphere. Porencephalic Cyst _ NICHD Pediatric Terminology Neonatal Research Network Terminology Port-Wine_Stain_of_Skin C3840 A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color. Nevus Flammeus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Portal_Hypertension C3119 Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly. Portal Hypertension _ NICHD Pediatric Terminology Neonatal Research Network Terminology Positive_Pregnancy_Test C92849 A test result indicating the presence of hormones (HCG) in the blood or urine of a woman that confirm pregnancy . Positive Pregnancy Test _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Post-Partum_Recovery C92936 The healing and recuperation of the mother including physiological readjustment after pregnancy and delivery of the baby. Postpartum Recovery _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Post-Traumatic_Stress_Disorder C3389 An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term. Post-Traumatic Stress Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Postal_Code C25621 Any system designed to expedite the sorting and delivery of mail by assigning a series of alphanumeric codes to each delivery area. Also used to refer to any individual delivery area code. Postal Code _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Posterior_Occiput C92850 A fetal position during delivery in which the head of the fetus is facing the mother's abdomen. Posterior Occiput Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Postnatal_Drug_Withdrawal C103170 Withdrawal signs and symptoms that present during the postnatal period and are caused by drug use by the pregnant mother. Postnatal Drug Withdrawal _ NICHD Pediatric Terminology Neonatal Research Network Terminology Postnatal_Stage C90338 The stage in the life of a mother after she has given birth. Maternal Postnatal Stage _ NICHD Pediatric Terminology Postpartum C92851 The period of time immediately after labor and delivery. Postpartum _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Postpartum_Depression C92852 A type of clinical depression that occurs after childbirth. Postpartum Depression _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Postpartum_Hemorrhage C92853 Hemorrhage defined as a blood loss in excess of 500 mL after vaginal delivery or more than 1000 mL after a cesarean delivery. Postpartum Hemorrhage _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Postpartum_Process C92935 The recovery and readjustment process in a mother after pregnancy and delivery. Postpartum Process _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Pound C48531 The traditional unit of mass. By international agreement, one avoirdupois pound is equal to exactly 0.453 592 37 kilogram, 16 ounces, or 1.215 28 troy pounds. Pound _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Prader-Willi_Syndrome C75463 A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism. Prader-Willi Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Preconception_Stage C90340 The stage in the life of a female during which she is attempting to get pregnant. Maternal Preconception Stage _ NICHD Pediatric Terminology Preeclampsia C85021 A pregnancy-related disorder characterized by an increase in the blood pressure after the twentieth week of gestation, and by the presence of proteinuria. It may appear up to six weeks post-partum. It may lead to eclampsia with development of tonic-clonic seizures. Preeclampsia _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Pregnancy C25742 The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth. Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Pregnancy_Associated_Plasma_Protein_A C91825 Pappalysin-1 (1627 aa, ~181 kDa) is encoded by the human PAPPA gene. This protein is involved in the modulation of proteolysis. Pappalysin-1 _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Pregnancy_Complication C34941 The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus. Pregnancy Complication _ Complication_Related_to_Pregnancy NICHD Newborn Screening Terminology Neonatal Research Network Terminology Pregnancy_Disorder C35169 A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. Pregnancy Disorder _ Disorder of Pregnancy NICHD Pediatric Terminology Neonatal Research Network Terminology Pregnancy_Finding C92720 Symptoms, signs, diagnostic examinations or a test results in a pregnant mother. Pregnancy Finding _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Pregnancy_Induced_Hypertension C4371 The most common complication of pregnancy. It may appear as chronic hypertension or preeclampsia. It may cause brain hemorrhage, pulmonary edema, abruptio placentae, gestational diabetes mellitus, renal failure, premature delivery and fetal growth abnormalities. Pregnancy Associated Hypertension _ Pregnancy-Induced_Hypertension NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Pregnancy_Outcome C90491 Findings observed at the end of a pregnancy. Pregnancy Outcome _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Pregnancy_Test C92949 Any examination performed to assess if a female is gravid. Pregnancy Test _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Pregnancy_Time_Period C92858 The duration of pregnancy from conception to childbirth. Pregnancy Time Period _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Prekallikrein_Deficiency C99022 A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease. Prekallikrein Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Premature_Closure_of_the_Ductus_Arteriosus C99024 Closure of the ductus arteriosus in utero. It results in pulmonary hypertension and right ventricular hypertrophy. Premature Closure of the Ductus Arteriosus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Premature_Labor C50917 Ouster of a viable infant before the normal end of gestation, commonly defined as interruption of pregnancy between the twentieth-thirty seventh completed weeks after the onset of the last menstrual cycle. Premature Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Premature_Rupture_of_Membranes C87113 The condition when a patient who is beyond 37 weeks gestation presents with rupture of membranes prior to the onset of labor. Rupture of membranes is diagnosed by speculum vaginal examination of the cervix and vaginal cavity, which will show pooling of fluid in the vagina or leakage of fluid from the cervix. Preterm PROM (known as PPROM) refers to a patient who has not yet reached 37 weeks gestation and presents with rupture of membranes. Premature Rupture of Membrane _ PROM NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Prenatal C81318 The time period after impregnation and before birth. Prenatal _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Prenatal_Stage C90339 The stage in the life of a mother during which she is pregnant. Maternal Prenatal Stage _ NICHD Pediatric Terminology Prenatal_Vitamins C92860 A vitamin enriched supplement containing higher doses for specific nutrients such as folic acid, intended for women before, during and after pregnancy and also during their lactating phase. Prenatal Vitamin _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Preterm_Birth C92861 The birth of an infant of less than 37 weeks for the gestational age. Preterm Birth _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Preterm_Neonatal_Stage C89888 The period at birth when a newborn is born prior to the full gestational period. Preterm Neonatal Stage A human life stage that begins at birth prior to thirty-seven weeks of full gestation (full term) and continues until twenty-seven complete days after birth. NICHD Pediatric Terminology Preterm_Newborn_Infant C49642 An infant born prior to completion of the normal gestation period. Preterm Newborn Infant _ NICHD Pediatric Terminology Preterm_Premature_Rupture_of_Membrane C92862 An early rupture of the amniotic membranes during pregnancy and one that precedes 37 weeks of gestation. Preterm Premature Rupture of Membrane _ PPROM NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Preventive_Intervention C15843 Therapeutic, nutritional, environmental, social and or behavioral interventions at the societal, community, organizational or individual levels to reduce, modify or stop the course of a disease. Preventive Intervention _ NICHD Pediatric Terminology Primary_Immune_Deficiency_Disorder C3131 Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. Immunodeficiency Syndrome Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function properly. Most primary immunodeficiencies are genetic disorders; the majority are diagnosed in children under the age of one, although milder forms may not be recognized until adulthood. NICHD Pediatric Terminology Neonatal Research Network Terminology Primary_Malignant_Neoplasm C84509 A malignant tumor at the original site of growth. Primary Malignant Neoplasm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Primary_Malignant_Neoplasm_of_Eye C4767 A primary or metastatic tumor involving the structures of the eye (conjunctiva, cornea, uvea, retina), the lacrimal gland, and the orbit. Representative examples are melanoma, carcinoma, lymphoma, and retinoblastoma. Malignant Eye Neoplasm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Primary_Malignant_Neoplasm_of_Liver C34803 An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma. Primary Malignant Liver Neoplasm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Prolactin C778 Human prolactin (227 aa, 26 kDa precursor) is encoded by the human prolactin (PIT1) gene. This secreted lactogenic glycoprotein is expressed in both anterior pituitary lactotropes and the decidual endometrium. It acts primarily on the mammary gland and, in synergy with estrogen, induces progesterone release by corpus luteum cells to render the uterine mucosa suitable for implantation. Prolactin _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Prolonged_Acceleration C92863 An abrupt and extended increase in the fetal heart rate during labor contractions. Prolonged Fetal Heart Rate Acceleration _ Prolonged_Fetal_Heart_Rate_Acceleration NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Prolonged_Deceleration C92864 An extended decrease in the fetal heart rate compared to the normal baseline values. Prolonged Fetal Heart Rate Deceleration _ Finding_of_Prolonged_Deceleration NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Property_or_Attribute C20189 A distinguishing quality or prominent aspect of a person, object, action, process, or substance. Property or Attribute NICHD Pediatric Terminology Propionic_Acidemia C85030 A rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy. Propionic Acidemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Proptosis C87114 Abnormal protrusion of one or both eyes from the socket; causes include hyperthyroidism (particularly Graves disease); bleeding behind the eye; infection, inflammation, or tumors of the orbit; and vascular disorders. Proptosis _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Protein_C_Deficiency_Disease C99025 A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. Protein C Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Protein_Measurement C64430 A term that refers to a chemistry test measuring a specific protein or enzyme in the peripheral blood or body fluid. Protein or Enzyme Type Measurement _ NICHD Pediatric Terminology Neonatal Research Network Terminology Protein_S_Deficiency_Disease C99026 A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism. Protein S Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Prune_Belly_Syndrome C85033 A rare congenital syndrome occurring almost exclusively in males. It is characterized by partial or complete lack of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis, and undescended testes. Prune Belly Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pseudoaneurysm C50711 The creation of hematoma outside the arterial wall following bleeding due to puncture of the arterial wall. Pseudoaneurysms can also occur in the heart chambers following myocardial infarction and bleeding. Pseudoaneurysm _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pseudohypoparathyroidism C99027 A condition characterized by the insensitivity of the tissues to respond to the activity of the parathyroid hormone. It results in increased levels of parathyroid hormone in the serum, hypocalcemia, and hyperphosphatemia. Pseudohypoparathyroidism _ NICHD Pediatric Terminology Neonatal Research Network Terminology Psychiatric_Disorder C2893 A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. Psychiatric Disorder _ NICHD Pediatric Terminology Pterygium_Colli C87130 A congenital, usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome. Pterygium Colli _ Neck_Webbing NICHD Newborn Screening Terminology Neonatal Research Network Terminology Pulmonary_Artery_Stenosis C99030 A congenital or acquired cardiovascular abnormality characterized by the narrowing of the lumen of the main pulmonary artery or its branches. Signs and symptoms include dyspnea, tachypnea, tachycardia, fatigue, and edema. Pulmonary Artery Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pulmonary_Atresia_with_Intact_Ventricular_Septum C99032 Pulmonary valve atresia not associated with a ventricular septal defect. Pulmonary Valve Atresia with Intact Ventricular Septum _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pulmonary_Atresia_with_Ventricular_Septal_Defect C99033 Pulmonary valve atresia associated with the presence of a large ventricular septal defect. It may be a severe form of tetralogy of Fallot. Pulmonary Valve Atresia with Ventricular Septal Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pulmonary_Embolism C50713 The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. Pulmonary Embolism _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pulmonary_Hemorrhage C78578 Bleeding from the lung parenchyma. Pulmonary Hemorrhage _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pulmonary_Hypertension C3120 Increased pressure within the pulmonary circulation due to lung or heart disorder. Pulmonary Hypertension _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pulmonary_Trunk_Hypoplasia C103226 Underdeveloped pulmonary arteries. Pulmonary Trunk Hypoplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pulmonary_Valve_Atresia C99031 A congenital heart defect characterized by complete atresia of the pulmonary valve. It is manifested during infancy with cyanosis, dyspnea, and tachypnea. Pulmonary Valve Atresia _ Congenital Atresia of the Pulmonary Valve; Pulmonary Atresia NICHD Pediatric Terminology Neonatal Research Network Terminology Pulmonary_Vein_Stenosis C99036 Obstruction of the pulmonary vein in one or multiple sites. The obstruction is the result of wall thickening and narrowing of the lumen of the vein. Pulmonary Vein Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pulmonic_Valve_Stenosis C50715 Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets. Pulmonary Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pulse_Oximetry C38085 A non-invasive method that provides estimates of arterial oxyhemoglobin saturation by utilizing selected wavelengths of light to determine the saturation of oxyhemoglobin. Pulse Oximetry _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pulse_Rate C49676 The rate of the pulse as observed in an artery, expressed as beats per minute. It can be measured at several anatomical sites, including the wrist, neck, temple, groin, behind the knees, or on top of the foot. Pulse Rate _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pupil_Reactions_Normal C99136 A finding indicating the quick and brisk constriction of the pupils in response to light. Normal Pupillary Response _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pupils_Equal_Round_and_Reactive_to_Light_Result C87107 While performing an assessment of the eyes, the examiner notes whether the pupils are equal, round, and reactive to light. If all findings are normal, the abbreviation PERRL is noted in the examiner's account of the physical examination. Pupils Equal Round and Reactive to Light Result _ Pupil_Equal_Round_and_Reacting_to_Light NICHD Newborn Screening Terminology Neonatal Research Network Terminology Pupils_Equal_Round_and_Reactive_to_Light_and_Accommodation_Result C87108 While performing an assessment of the eyes, the examiner notes whether the pupils are equal and round, reactive to light, and have the ability to accommodate. If all findings are normal, the abbreviation PERRLA is noted in the examiner's account of the physical examination. Pupils Equal Round and Reactive to Light and Accommodation Result _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Pyelonephritis C34965 An acute or chronic inflammatory process affecting the kidney. It is caused by bacteria and in most cases it is the result of a urinary tract infection. Signs and symptoms include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. Pyelonephritis _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Pyloric_Stenosis C34966 Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. Pyloric Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Pyruvate_Carboxylase_Deficiency C85040 A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis. Pyruvate Carboxylase Deficiency _ Pyruvate Metabolism and Mitochondrial Respiratory Chain Disorder NICHD Pediatric Terminology Neonatal Research Network Terminology Quad_Screen C92865 A screening measurement in which the maternal blood levels of alpha-fetoprotein, unconjugated estriol, human chorionic gonadotrophin and Inhibin A are calculated. These are then evaluated in relation to the mother's age, weight and fetal gestational age. Quad Screen _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Qualitative_Concept C92722 A measurement expressed in words rather than numbers. Qualitative _ NICHD Pediatric Terminology Quantitative_Concept C70766 Capable of being estimated or expressed with numeric values. Quantitative _ NICHD Pediatric Terminology R-R_Wave_Period C69284 The time measurement between the R wave of successive heartbeats as measured in milliseconds. RR Interval _ NICHD Pediatric Terminology Neonatal Research Network Terminology Race C17049 An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. Race _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Radial_Aplasia-Thrombocytopenia_Syndrome C99038 A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radius bone. Thrombocytopenia-Absent Radius Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Range C38013 The difference between the lowest and highest numerical values; the limits or scale of variation. Range _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Recombinant_Hepatitis_B_Vaccine C29091 A non-infectious mixture containing recombinant hepatitis B surface antigen (HBsAg) in a liquid vehicle. Immunization with the hepatitis B vaccine induces the formation of specific anti-hepatitis B antibodies and an active immunity against hepatitis B infection. Hepatitis B Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Recombinant_Human_Papilloma_Virus_Vaccine C1951 A recombinant vaccine of different types of HPV proteins which are well-conserved within types with a significant inter-type variation. Human Papilloma Virus Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Recombinant_Viral_Vaccine C1572 A vaccine produced from genetically engineered viral vector by introduction of foreign genetic materials to activate immune response in a host. Recombinant Viral Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Rectal-Vesico-Vaginal_Fistula C99040 An abnormal communication between the rectum, bladder, and vagina. Recto-Vesico-Vaginal Fistula _ NICHD Pediatric Terminology Neonatal Research Network Terminology Rectal_Stenosis C78589 Narrowing of the rectal lumen. Rectal Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Rectum C12390 The terminal portion of the gastrointestinal tract, extending from the rectosigmoid junction to the anal canal. Rectum _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Recurrent_Deceleration C92866 A frequently repeated decrease in the fetal heart rate that occurs in conjunction with a uterine contraction; this happens with the majority of heartbeats. Recurrent Fetal Heart Rate Deceleration _ NICHD Pediatric Terminology Neonatal Research Network Terminology Recurrent_Laryngeal_Nerve_Injury C103171 Damage to the recurrent laryngeal nerve. Recurrent Laryngeal Nerve Injury _ NICHD Pediatric Terminology Neonatal Research Network Terminology Red_Reflex_Vision_Test C81283 An optic examination in which an ophthalmoscope or retinoscope is placed approximately 30cm from the eye to visualize whether a reddish hue is reflected from the retina. Red Reflex Vision Test _ Red_Reflex NICHD Newborn Screening Terminology Neonatal Research Network Terminology Redness C4077 Coloration of the skin; sign of inflammation Redness _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Referral C52582 Sending a patient from one practitioner to another for health care services. Referral _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Reflex C78342 An automatic instinctive unlearned reaction to a stimulus. Reflex _ Reflex Finding; Reflex Observable NICHD Pediatric Terminology Neonatal Research Network Terminology Reflex_Irritability_Score C81319 A component of the APGAR score, it is the numerical value assigned to the neonate's response to stimuli, such as a mild pinch. 0 = no reaction; 1 = grimace; 2 = grimace with a cough, sneeze, or vigorous cry. Reflex Irritability Score _ NICHD Pediatric Terminology Neonatal Research Network Terminology Regional_Anesthesia_Procedure C64381 The administration of pharmaceutical agents intended to produce loss of sensation in a particular anatomical region. Regional Anesthesia Procedure _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Regular_Contraction C92867 A consistent rhythmic pattern of uterine muscle tightening that occurs at regular intervals for the same duration of time. Regular Uterine Contraction _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Regularity_of_Uterine_Contraction C92868 The nature and pattern of occurrence for the uterine contractions during labor. Regularity of Uterine Contraction _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Regurgitation C50726 Flow in the opposite direction from normal, as the casting up of undigested food or gas from the stomach, or the backward flowing of blood into the heart, or between the chambers of the heart when a valve is incompetent. Regurgitation _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Renal_Agenesis C99041 A congenital abnormality characterized by the absence of one or both kidneys. Renal Agenesis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Renal_Dysplasia C3847 A finding of congenital malformations in the kidney characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. Renal Cell Dysplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Renal_Failure_Syndrome C4376 Acute or chronic condition, characterized by the inability of the kidneys to adequately filter the blood substances, resulting in uremia and electrolyte imbalances. Acute renal failure is usually associated with oliguria or anuria, hyperkalemia, and pulmonary edema. Chronic renal failure is irreversible and requires hemodialysis. Renal Failure _ Renal Impairment NICHD Pediatric Terminology Neonatal Research Network Terminology Renal_Tubular_Acidosis C28129 Failure of the renal tubules of the kidney to excrete urine of normal acidity resulting in metabolic acidosis. It may lead to hypercalcinuria, nephrolithiasis, and renal failure. Causes include autoimmune disorders (e.g., Sjogren syndrome, systemic lupus erythematosus, and rheumatoid arthritis), medications (e.g., non steroidal anti-inflammatory drugs, diuretics, and blood pressure medications), Fanconi syndrome, or it may be familiar. Renal Tubular Acidosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Renal_Vascular_Disorder C35338 A kidney disorder that results from the damage of the renal arteries or veins. It may lead to renal dysfunction and/or hypertension. Renal Vascular Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Renal_Vein_Thrombosis C99042 The formation of a blood clot (thrombus) in the renal vein. Renal Vein Thrombosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Reproductive_Process C21173 A Reproductive System Process involves a function of cellular, cell, or tissue components of the organ system involved in generation of offspring that includes the ovaries, fallopian tubes, uterus, cervix, and vagina in women or the prostate, testes, and penis in men. Reproductive Process _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Reproductive_System_Disorder C4875 A non-neoplastic or neoplastic disorder that affects the male or female genital system. Representative examples of non-neoplastic disorders include infection, testicular torsion, endometriosis, and adenomyosis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma. Reproductive System Disorder _ Disorder of Reproductive System NICHD Pediatric Terminology Neonatal Research Network Terminology Reproductive_System_Finding C36284 Symptoms, physical examination results, and/or laboratory test results related to the reproductive system. Reproductive System Finding _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Research_Activity C15429 Systematic investigation into a subject in order to discover facts, establish or revise a theory, or develop a plan of action based on the facts discovered. Research Activity _ NICHD Pediatric Terminology Residential_Telephone_Number C81284 The sequence of numbers or characters, that when dialed, connects to a particular residential telephone. Residential Telephone Number _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Respiratory_Distress_Syndrome C27561 A group of conditions characterized by failure of normal respiration caused by lack of lung surfactant. Respiratory Distress Syndrome _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Respiratory_Failure C26872 Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Respiratory Failure _ NICHD Pediatric Terminology Neonatal Research Network Terminology Respiratory_Failure_due_to_CNS_Disorder C101332 Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide; the respiratory failure is due to a central nervous system disorder. Respiratory Failure due to Central Nervous System Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Respiratory_Failure_due_to_Neuromuscular_Disorder C101331 Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide; the respiratory failure is due to a neuromuscular disorder. Respiratory Failure due to Neuromuscular Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Respiratory_Finding C45233 Symptoms, physical examination results, and/or laboratory test results related to the respiratory system. Respiratory System Finding _ NICHD Pediatric Terminology Neonatal Research Network Terminology Respiratory_Rate C49678 The rate of breathing (inhalation and exhalation) measured within in a unit time, usually expressed as breaths per minute. Respiratory Rate _ NICHD Pediatric Terminology Neonatal Research Network Terminology Respiratory_System_Disorder C26871 A non-neoplastic or neoplastic disorder that affects the tracheobronchial tree and/or the lung parenchyma. Representative examples include infections, carcinomas, and lymphomas. Respiratory Disorder _ Disorder of Respiratory System NICHD Pediatric Terminology Neonatal Research Network Terminology Respiratory_Tract_Aspiration C83507 Accidental inhalation of a foreign material into the lungs. Unintentional Material Aspiration _ NICHD Pediatric Terminology Neonatal Research Network Terminology Retinal_Disorder C26875 An abnormal structure or function of the retina and its associated tissues. Retinal Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Retinal_Examination C101217 An examination of the retina of the eye using an ophthalmoscope. Retinal Examination _ NICHD Pediatric Terminology Neonatal Research Network Terminology Retinitis C85045 A rare inherited retinal dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium. It is manifested with decreased vision in low light or in the night, followed by decreased peripheral vision, and, eventual decreased central vision. It may lead to blindness. Retinitis Pigmentosa Retinitis is inflammation of the retina in the eye. NICHD Pediatric Terminology Neonatal Research Network Terminology Retinoblastoma C7541 A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. Retinoblastoma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Retinoic_Acid_Embryopathy C98929 A rare syndrome that affects the fetus and is caused by the maternal use of retinoids during pregnancy. It is characterized by growth delay, skull and facial malformations, heart malformations, and central nervous system malformations. Fetal Retinoid Syndrome _ Fetal Isoretinoin Syndrome NICHD Pediatric Terminology Neonatal Research Network Terminology Retinopathy_of_Prematurity C34982 A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia. Retinopathy of Prematurity _ NICHD Pediatric Terminology Neonatal Research Network Terminology Retinopathy_of_Prematurity_Immature C101312 An immature state in which retinopathy of prematurity cannot be established. Immature Retinopathy of Prematurity Retinopathy of prematurity occurs in premature infants who are born before the retinal vessels complete their normal growth. It results in disorganized growth of retinal blood vessels, which may lead to scarring and retinal detachment. Retinopathy of Prematurity, Immature NICHD Pediatric Terminology Neonatal Research Network Terminology Retinopathy_of_Prematurity_Stage_1_-_Demarcation_Line C99047 An opthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of a faint demarcation line. Retinopathy of Prematurity Stage 1 Demarcation Line Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 1: Demarcation Line is a thin but definite structure that separates the avascular retina anteriorly from the vascularized retina posteriorly. There is abnormal branching or arcading of vessels leading up to the demarcation line that is relatively flat, white, and lies within the plane of the retina. NICHD Pediatric Terminology Neonatal Research Network Terminology Retinopathy_of_Prematurity_Stage_2_-_Intraretinal_Ridge C99048 An opthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of an elevated ridge. Retinopathy of Prematurity Stage 2 Intraretinal Ridge Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 2: Intraretinal Ridge, the ridge arises from the demarcation line and has height and width, which extends above the plane of the retina. The ridge may change from white to pink and vessels may leave the plane of the retina posterior to the ridge to enter it. NICHD Pediatric Terminology Neonatal Research Network Terminology Retinopathy_of_Prematurity_Stage_3_-_Ridge_with_Extraretinal_Fibrovascular_Proliferation C99049 An opthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of extraretinal fibrovascular tissue. Retinopathy of Prematurity Stage 3 Ridge with Extraretinal Fibroblastic Proliferation Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 3: Ridge with extraretinal fibrovascular proliferation, the neovascularization extends from the ridge into the vitreous. This extraretinal proliferating tissue is continuous with the posterior aspect of the ridge, causing a ragged appearance as the proliferation becomes more extensive. NICHD Pediatric Terminology Neonatal Research Network Terminology Retinopathy_of_Prematurity_Stage_4_-_Subtotal_Retinal_Detachment C99050 An opthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of subtotal retinal detachment. Retinopathy of Prematurity Stage 4 Subtotal Retinal Detachment Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 4: Subtotal Retinal Detachment the retinal detachments are generally concave and most are circumferentially oriented. Retinal detachments usually begin at the point of fibrovascular attachment to the vascularized retina and the extent of detachment depends on the amount of neovascularization present. NICHD Pediatric Terminology Neonatal Research Network Terminology Retinopathy_of_Prematurity_Stage_5_-_Total_Retinal_Detachment C99051 An opthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of total retinal detachment. Retinopathy of Prematurity Stage 5 Total Retinal Detachment Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 5: Total Retinal Detachment, the retinal detachments are generally tractional and usually funnel shaped. The configuration of the funnel itself is used for subdivision of this stage depending if the anterior and posterior portions are open or narrowed. NICHD Pediatric Terminology Neonatal Research Network Terminology Retinopathy_of_Prematurity_in_Zone_1 C99044 Retinopathy of prematurity located in zone 1 of the retina. Retinopathy of Prematurity in Zone 1 _ NICHD Pediatric Terminology Neonatal Research Network Terminology Retinopathy_of_Prematurity_in_Zone_2 C99045 Retinopathy of prematurity located in zone 2 of the retina. Retinopathy of Prematurity in Zone 2 _ NICHD Pediatric Terminology Neonatal Research Network Terminology Retinopathy_of_Prematurity_in_Zone_3 C99046 Retinopathy of prematurity located in zone 3 of the retina. Retinopathy of Prematurity in Zone 3 _ NICHD Pediatric Terminology Neonatal Research Network Terminology Retinopathy_of_Prematurity_with_Plus_Disease C101036 A stage of retinopathy of prematurity characterized by the presence of the following in at least two quadrants around the optic nerve: dilation and tortuosity of major retinal vasculature as a result of increased blood flow. Retinopathy of Prematurity with Plus Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Rett_Syndrome C75488 A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances. Rett Syndrome _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Rh_Immune_Globulin_Administration C92947 The administration of Rh Immune Globulin to a pregnant mother to ameliorate the effects of conflicting Rh factors during pregnancy. Rh Immune Globulin Administration _ Rho(D) Immune Globulin Administration NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Rh_Incompatibility C84504 A complication during pregnancy; it occurs when the mother is Rh-negative and the infant is Rh-positive. The mother's body develops antibodies against the fetal red blood cells leading to their destruction. This complication generally does not affect first-born Rh-positive babies. Rh-positive newborn babies from subsequent pregnancies develop complications of Rh incompatibility which include hemolysis, jaundice, enlarged liver and spleen, petechiae, hypotonia, neurologic damage, and heart problems. Rh Incompatibility _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Rh_factor_Measurement C92948 An immunology test to measure for the presence of the Rh factor antigen in blood. Rh Factor Measurement _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Rhabdomyomatous_Neoplasm C3358 A benign neoplasm arising from striated muscle. It is characterized by the presence of rhabdomyoblasts. Rhabdomyoma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Rhabdomyosarcoma C3359 A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. Rhabdomyosarcoma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Rhesus_Antibody_Titer_Measurement C99052 An immunology test that detects the quantity of anti-Rhesus antibodies in the serum of a pregnant woman. Rh Titer Measurement _ NICHD Pediatric Terminology Neonatal Research Network Terminology Rhizomelic_Chondrodysplasia_Punctata_Syndrome C85047 An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation. Rhizomelic Chondrodysplasia Punctata _ Rhizomelic Dwarfism NICHD Pediatric Terminology Neonatal Research Network Terminology Rhonchi C87116 An abnormal sound similar to snoring heard on auscultation of the bronchial airways, suggesting a partial obstruction due to thick secretions, a muscular spasm, or a neoplasm. Rhonchi _ NICHD Pediatric Terminology Neonatal Research Network Terminology Rickets C26878 Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. Rickets _ NICHD Pediatric Terminology Neonatal Research Network Terminology Right_Aortic_Arch C34391 A syndrome resulting from structural defects of the arteries that arise from the aortic arch. Signs and symptoms include weakness, dizziness, arm numbness, blurred vision and transient ischemic attacks. Aortic Arch Syndrome A congenital anomaly in which the aorta is displaced to the right and passes behind the esophagus, thus forming a vascular ring that may cause compression of the trachea and esophagus. NICHD Pediatric Terminology Neonatal Research Network Terminology Right_Ear C81285 The organ of hearing located on the right side of the head. Right Ear _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Right_Hypoplastic_Heart_Syndrome C99053 A rare congenital cardiovascular disorder characterized by severe underdevelopment of the right side of the heart. The infants develop cyanosis shortly after birth. It is a condition that requires immediate emergency treatment. Hypoplastic Right Heart Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Right_Occiput_Anterior C92871 A fetal position during delivery in which the fetus is in the birth canal and the back of the head is oriented towards the maternal right thigh region. Right Occiput Anterior Presentation _ ROA NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Risk_Factor C17103 Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury. Risk Factor _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Risk_Factor_Assessment C90498 A systematic gathering of information regarding the variables associated with an individual's increased risk of disease or infection. Risk Factor Assessment _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Robin_Sequence C85010 A rare congenital malformation characterized by micrognathia, posterior retraction of the tongue, and cleft palate. Pierre Robin Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Rooting_Reflex C81320 An involuntary, primal response in the neonate to search for the nipple when the cheek is touched. Rooting Reflex _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Rotavirus C77199 A genus of double stranded RNA viruses that carry 11 unique double helix molecules of RNA that encode one or two proteins each. The RNA is surrounded by a three-layered icosahedral protein capsid. Viral particles are up to 76.5 nm in diameter and are not enveloped. Rotavirus _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Rotavirus_Vaccine C96394 A viral vaccine that prevents against rotavirus infection, the leading cause of severe acute gastroenteritis. Rotavirus Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Route_of_Administration C38114 Designation of the part of the body through which or into which, or the way in which, the medicinal product is intended to be introduced. In some cases a medicinal product can be intended for more than one route and/or method of administration. Route of Administration _ NICHD Pediatric Terminology Rubella_Immunization C92872 The administration of a live attenuated viral vaccine to prevent rubella infection. Rubella Immunization _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Rubella_Infection C85051 A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body. Rubella Infection _ German Measles NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Rubinstein-Taybi_Syndrome C75466 A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders. Rubinstein-Taybi Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Rupture_of_Membrane C92874 Breaking or tearing of the amniotic membranes during childbirth leading to the leakage of amniotic fluid and the progression of labor. Rupture of Membrane _ amniorrhexis; breaking water NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Russell-Silver_Syndrome C85068 A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present. Silver-Russell Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology S-Beta_Thalassemia C81288 A disorder characterized by the body's inability to synthesize beta-globin chains, leading to the formation of abnormal hemoglobin and anemia. This inherited autosomal recessive blood disorder is caused by germline mutation of the HBB gene. S-Beta Thalassemia _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology ST_Waveform_Analysis_Technology C92889 A method of fetal ECG surveillance during labor that monitors the ST segment, to indicate any fetal hypoxia. ST Waveform Analysis _ STAN NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Sacral_Agenesis C99054 A rare congenital abnormality characterized by partial or complete absence of the lower portion of the spine. Caudal Regression Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Sacral_Dimple C87118 A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area. Sacral Dimple _ NICHD Pediatric Terminology Neonatal Research Network Terminology Sacral_Meningocele C101212 A congenital abnormality in the sacral region of the spine in which the meninges protrude through a defect in the spinal column. Sacral Meningocele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Sacral_Myelocele C98900 Herniation of spinal cord tissue and meninges through a defect in the sacral region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. Sacral Myelocele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Sacral_Myelomeningocele C101207 A congenital abnormality in the sacral region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. Sacral Myelomeningocele _ Congenital Sacral Meningocele NICHD Pediatric Terminology Neonatal Research Network Terminology Sacrococcygeal_Teratoma C99055 A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns. Sacrococcygeal Teratoma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Saethre-Chotzen_Syndrome C75034 A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes. Type III Acrocephalosyndactyly _ Acrocephalosyndactyly Type III NICHD Pediatric Terminology Neonatal Research Network Terminology Sarcoma C9118 A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. Sarcoma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Scarf_Sign C89521 When testing the newborn infant for neuromuscular maturity, the "scarf sign" test is carried out by drawing the newborn's arm across the chest to the opposite shoulder until resistance is felt. In term infants, the elbow should not cross the midline of the chest. Scarf Sign _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Schizencephaly C99056 A rare developmental abnormality characterized by the presence of clefs in the cerebral hemispheres. The abnormality may involve one or both cerebral hemispheres. Signs and symptoms include developmental delays, mental retardation, paralysis, presence of a small head, and seizures. Schizencephaly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Schultze_Mechanism C92846 The separation of the placenta from the uterine wall during labor; it begins at the placental center and leads to an expulsion of the placenta after delivery of the baby. Placental Schultze Mechanism _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Scimitar_Syndrome C85056 A rare congenital cardiopulmonary defect characterized by abnormal right-sided pulmonary venous drainage and right lung malformations. Scimitar Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Scoliosis C78603 A congenital or acquired spine deformity characterized by lateral curvature of the spine. Scoliosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Screening_for_Chickenpox C92916 A test to determine if an individual has antibodies to the varicella zoster virus. Varicella Zoster Virus Screening _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Screening_for_Genetic_Defect C92803 Testing to determine if there is a predisposition or indication of a possible genetic or a chromosomal abnormality. Genetic Screening _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Screening_for_Rubella C92873 A test during pregnancy to determine maternal exposure to the rubella virus that could lead to pregnancy complications or congenital rubella syndrome in the newborn. Rubella Screening _ Rubella_Screening NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Screening_or_Clinical_Tests_during_Pregnancy C92721 A group of tests performed during pregnancy to assess fetal health and to detect for genetic abnormalities and various disorders. Pregnancy Related Screening _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Second_Stage_of_Labor C92875 A stage during labor and childbirth when the cervix is effaced totally and remains dilated until the birth of the baby. Second Stage of Labor _ Birthing Stage NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Second_Trimester C92876 The period of gestation that ranges from the 13th to the 27th week of pregnancy. Second Trimester _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Seizure C2962 Sudden, involuntary skeletal muscular contractions of cerebral or brain stem origin. Seizure _ NICHD Pediatric Terminology Neonatal Research Network Terminology Selective_Mutism C92569 A persistent failure to speak in certain social situations (i.e., school) where speaking is expected, despite speaking in other situations. Selective Mutism _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Sensorineural_Hearing_Loss C26739 Hearing loss caused by a problem in the inner ear or auditory nerve. A sensorineural loss often affects a person's ability to hear some frequencies more than others. This means that sounds may be appear distorted, even with the use of a hearing aid. Sensorineural losses can range from mild to profound. Sensorineural Deafness _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Sensory_Disorder C63711 An interruption or alteration in the sensory activity or functions of the nervous system. Neurosensory Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Separation_Anxiety_Disorder C35014 An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning. Separation Anxiety Disorder _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Sepsis C3364 The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention. Septicemia _ Sepsis_Syndrome NICHD Pediatric Terminology Neonatal Research Network Terminology Septo-Optic_Dysplasia_Sequence C85063 A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism. Septo-Optic Dysplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Severe_Bronchopulmonary_Dysplasia C99057 Bronchopulmonary dysplasia that results in severe respiratory complications. The infants with severe symptoms are usually premature, have low birth weight, and the oxygen and ventilation support requirements are increased. Severe Bronchopulmonary Dysplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Sex C28421 The assemblage of physical properties or qualities by which male is distinguished from female; the physical difference between male and female; the distinguishing peculiarity of male or female. Sex _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Sexual_Abstinence C92877 Prevention of contraception by not engaging in sexual intercourse. Sexual Abstinence _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Sexual_Differentiation_Disorder C103186 A congenital disorder characterized by abnormalities in the development of the sexual characteristics. Sexual Differentiation Disorder _ Disorder of Sexual Differentiation NICHD Pediatric Terminology Neonatal Research Network Terminology Sexually_Transmitted_Disease_Screening C92878 A test to detect the presence of a sexually transmissible disease such as HIV, chlamydia, syphilis, gonorrhea, hepatitis B or hepatitis C. Sexually Transmitted Disease Screening _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Shock C35016 A life-threatening condition that requires immediate medical intervention. It is characterized by reduced blood flow that may result in damage of multiple organs. Types of shock include cardiogenic, hemorrhagic, septic, anaphylactic, and traumatic shock. Shock _ NICHD Pediatric Terminology Neonatal Research Network Terminology Shone_s_Syndrome_Greater_than_3_Sites C99058 A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis. Shone Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Short-Term_Variability C92879 A non-sustained irregular fetal heart rate in comparison to normal baseline values. Short-Term Fetal Heart Rate Variability _ Short_Term_Variability NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Short_Bowel_Syndrome C99059 Malabsorption that results from the removal of a large segment of the small intestine or, less frequently, from the presence of congenital small intestine. Signs and symptoms include diarrhea, steatorrhea, and weigh loss. Short Bowel Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Short_Segment_Hirschsprung_s_Disease C101041 The most common form of Hirschsprung Disease, this is characterized by a lack of nerve cells in the sigmoid colon and rectum. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary. Short Segment Hirschsprung Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Shoulder C25203 The region of the body between the neck and the upper arm. Shoulder _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Shoulder_Dystocia C81290 Abnormal labor or childbirth due to fetal shoulder obstruction in the vaginal canal. Shoulder Dystocia _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Shoulder_Presentation C92880 A fetal position during delivery in which the shoulder descends into the birth canal first. Shoulder Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Sick_Newborn C81291 A neonate that is unwell. Sick Newborn _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Sickle_Cell-Beta-Thalassemia C95539 A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene. Sickle Beta Thalassemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Sickle_Cell_Disease C34383 A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. Sickle Cell Disease _ Sickling_Disorder_due_to_Hemoglobin_S; Hereditary Hemoglobinopathy Disorder Homozygous for Hemoglobin S NICHD Newborn Screening Terminology Neonatal Research Network Terminology Signs_of_Impending_Birth C92881 The indicating characteristics in a pregnant mother who is in the process of labor and delivery of a fetus; common signs and symptoms include nesting, anxiety, excitement, loss of mucous plug, increased urinary frequency and loose bowel movements. Signs of Impending Birth _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Signs_or_Symptoms C100104 Objective evidence of disease perceptible to the examining practitioner (sign) and subjective evidence of disease perceived by the patient (symptom). Sign or Symptom _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Sinciput C92882 A fetal position during delivery in which the frontal part of the skull including forehead and the top of the head is first to descend into the birth canal. Sinciput Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Single_Palmar_Crease C87120 A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome. Single Palmar Crease _ Single_Transverse_Palmar_Crease NICHD Newborn Screening Terminology Neonatal Research Network Terminology Single_Ventricle C99060 A diverse group of congenital cardiovascular abnormalities that share one characteristic, the presence of a single functional cardiac ventricle. Single Ventricle Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Sinus_Infection C35024 An acute or chronic infectious process affecting the mucous membranes of the paranasal sinuses. Sinusitis _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Situs_Inversus C87121 A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). Situs Inversus _ Situs Ambiguus; Situs Inversus Viscerum NICHD Pediatric Terminology Neonatal Research Network Terminology Situs_Inversus_Thoracis C99061 A congenital condition in which there is complete right-to-left reversal of the position of the thoracic organs. Situs Inversus Thoracis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Skin_Changes C92856 Alterations in the skin's appearance during pregnancy due to hormonal level changes. Pregnancy Related Skin Change _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Skin_Color_Score C81321 A component of the APGAR score, it is the numerical value assigned to an assessment of the color of the skin of a neonate. 0 = pale blue; 1 = pink body and pale blue extremities; 2 = pink body and extremities. Skin Color Score _ NICHD Pediatric Terminology Neonatal Research Network Terminology Skin_Discoloration_Consistent_with_Extramedullary_Hematopoeis C41235 Hematopoiesis that occurs outside of the bone marrow. It occurs during fetal development or it may result from pathologic processes that affect the bone marrow. Extramedullary Hematopoiesis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Skin_Lesion C39688 A pathologic process that affects the skin and is confined to a specific area. Localized Skin Lesion _ NICHD Pediatric Terminology Neonatal Research Network Terminology Skin_Necrosis C54247 A circumscribed inflammatory and often suppurating and necrotic lesion on the skin. Causes include trauma, peripheral vascular disorder, diabetes, exposure to heat or cold, exposure to corrosive agents, infections, and prolonged staying in one position (pressure ulcer). Skin Ulcer _ NICHD Pediatric Terminology Neonatal Research Network Terminology Skin_Rash C39594 Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful. Skin Rash _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Sleep C73425 A natural and periodic state of rest during which consciousness of the world is suspended. Sleep _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Sleep_Disorder C3376 A change from the patient's baseline sleeping pattern, either an increase or a decrease in the number of hours slept. This can also refer to alterations in the stages of sleep. Sleep Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Smith-Lemli-Opitz_Syndrome C85071 A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present. Smith-Lemli-Opitz Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Smoking_History C29719 A record of an individual's background in regard to smoking tobacco. This would include such factors as start date, end date (if applicable), number of cigarette smoked, attempts to quit, and others. Smoking History _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Sneezing C50746 A symptom consisting of the involuntary expulsion of air from the nose. Sneezing _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Social_Anxiety_Disorder C34927 An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable. Social Phobia _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Social_History C81292 Past events that occurred between individuals and/or their communities. Social History _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Solitary_Multilocular_Renal_Cyst C3970 Abnormal fluid filled sac within the kidney, either acquired or congenital. Renal Cyst _ NICHD Pediatric Terminology Neonatal Research Network Terminology Somatotropin_Deficiency C102986 Abnormally low levels of circulating somatotropin. Somatotropin Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Sotos__Syndrome C75019 A rare genetic syndrome caused by mutations in the NSD1 gene. It is characterized by excessive physical growth early in life, mild mental retardation, and delayed cognitive and social development. Children affected by this syndrome are tall with larger than normal heads. Sotos Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Spastic_Diplegia C34781 A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy. Spastic Diplegia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Specific_Enzyme_Deficiency C3492 A finding in which there is a subnormal amount of an enzyme. Enzymes are proteins that are necessary in certain catabolic processes. Enzyme Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Specific_Phobia C35284 An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable. Specific Phobia _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Speech_Disorder C5041 A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders. Speech Manifestations _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Spermicidal_Cream C92883 A vaginal cream that is deleterious to sperm. Spermicidal Cream _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Spermicidal_Foam C92884 A vaginal foam that is deleterious to sperm. Spermicidal Foam _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Spermicidal_Jelly C92885 A vaginal jelly that is deleterious to sperm. Spermicidal Jelly _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Spermicide C92886 A chemical product that is deleterious to sperms and can be in the form of either a jelly, foam, or cream. Spermicide _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Spherocytosis C85074 A hereditary or acquired blood disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly. Spherocytosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Spina_Bifida C101214 A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae. Spina Bifida _ NICHD Pediatric Terminology Neonatal Research Network Terminology Spina_Bifida_Occulta C101044 The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an xray is performed. Treatment is symptomatic. Spina Bifida Occulta _ NICHD Pediatric Terminology Neonatal Research Network Terminology Spinal_Block C92887 A procedure in which a pharmaceutical agent is administered into the subarachnoid space, producing a loss of sensation at and below the level of the block. Spinal Block _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Spinal_Cord_Infarct_during_Birth C101272 Ischemic necrosis of the spinal cord due to spinal artery occlusion during the birthing process. Spinal Cord Infarct during Birth _ NICHD Pediatric Terminology Neonatal Research Network Terminology Spinal_Cord_Injury C50750 Traumatic damage of the spinal cord. Spinal Cord Injury _ NICHD Pediatric Terminology Neonatal Research Network Terminology Spinal_Deformity C99064 A congenital or acquired deformity of the spine. Representative examples include scoliosis, kyphosis, and sagittal imbalance. Spinal Deformity _ NICHD Pediatric Terminology Neonatal Research Network Terminology Spinal_Injury_due_to_Birth_Trauma C101278 An injury to the spinal cord sustained during the birthing process. Spinal Injury due to Birth Trauma _ NICHD Pediatric Terminology Neonatal Research Network Terminology Spinal_Muscular_Atrophy C85075 An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements. Spinal Muscular Atrophy _ NICHD Pediatric Terminology Neonatal Research Network Terminology Spontaneous_Perforation C99145 A hole through the wall of an organ that occurs without external influence. Spontaneous Perforation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Spontaneous_Rupture_of_Membrane C92888 The normal rupture of the amniotic sac in a full term pregnant mother at the onset of labor. Spontaneous Rupture of Membrane _ SROM NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Square_Window C89520 When testing the newborn infant for neuromuscular maturity, the "square window" test measures wrist flexibility and resistance to extensor stretching, The examiner straightens the infant's fingers and applies gentle pressure on the dorsum of the hand, close to the fingers, and then estimates the angle between the palm of the hand and the forearm. Square Window _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Stages_of_Labor C92723 The various distinct periods of the labor and childbirth process. It involves uterine contractions and cervical dilation to expel the fetus and for the baby to be born. Stage of Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Stepping_Reflex C81322 An involuntary, primal response in the neonate to take brisk steps when the feet are placed on a surface whilst in a supported standing position. Step Reflex _ NICHD Pediatric Terminology Neonatal Research Network Terminology Steroid_21-Monooxygenase_Deficiency C101042 Less than necessary amount of the enzyme steroid 21-monooxygenase; which is necessary to synthesize cortisol. Steroid 21-Monooxygenase Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Stickler_Syndrome C74984 A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities. Stickler Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Strabismus C35040 Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected. Strabismus _ NICHD Pediatric Terminology Neonatal Research Network Terminology Street_Number C81293 The numeric or alphabetic identifier of a building on a thoroughfare. Street Number _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Stretch_Marks C92857 The visible, linear scarring in the dermis, predominantly of the abdomen due to the stretching of tissue and related hormonal changes during pregnancy. Pregnancy Stretch Mark _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Stricture_of_Intestine C98962 Fibrosis of the wall of a segment of the intestine that leads to intestinal lumen narrowing. Intestinal Stricture _ NICHD Pediatric Terminology Neonatal Research Network Terminology Stripping_of_Membrane C92890 An intervention during labor and delivery, of gently sweeping the amniotic membrane to separate it from the attachment to the lower uterine segment. Stripping of Membrane _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Sturge-Weber_Syndrome C3391 A congenital disorder characterized by the presence of a port-wine nevus birthmark on one or both sides of the face. Additional clinical manifestations may include seizures, leptomenigeal angiomas, glaucoma, progressive hemiparesis and cognitive deficits. Sturge-Weber Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Subarachnoid_Hemorrhage C50757 Intracranial hemorrhage into the subarachnoid space. Subarachnoid Hemorrhage _ NICHD Pediatric Terminology Neonatal Research Network Terminology Subcutaneous_Route_of_Administration C38299 Drug administration beneath the skin. It provides for relatively slow, sustained release of the drug. The rate of absorption into the blood is perfusion-limited, proportional to the amount of drug at the site and can be enhanced by chemical or physical stimulation of blood flow. Subcutaneous administration minimizes the risks associated with intravascular injection: for subcutaneous infusions, external and implantable pumps are used. Subcutaneous Route of Administration _ NICHD Pediatric Terminology Subdural_Hemorrhage C50759 Cerebral hemorrhage into the subdural space. See also Stroke Syndrome. Subdural Hemorrhage _ NICHD Pediatric Terminology Neonatal Research Network Terminology Subgaleal_Hemorrhage C50761 Bleeding in the area between the scalp and the skull. Subgaleal Hemorrhage _ NICHD Pediatric Terminology Neonatal Research Network Terminology Submitting_Facility C81294 The hospital or medical institution that is submitting data or information. Submitting Facility _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Substance C45306 Any matter of defined composition that has discrete existence, whose origin may be biological, mineral or chemical. NICHD Pediatric Terminology Sucking_Reflex C81323 An involuntary, primal response in the neonate when a nipple is placed on an infant's lips. Sucking Reflex _ NICHD Pediatric Terminology Neonatal Research Network Terminology Supravalvular_Aortic_Stenosis C85176 A rare, congenital or acquired aortic stenosis characterized by localized or diffuse narrowing of the ascending aorta. Supravalvular Aortic Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Supravalvular_Pulmonary_Artery_Stenosis C99066 Stenosis of the pulmonary artery that occurs above the valve. Supravalvular Pulmonary Artery Stenosis _ Pulmonary Artery Stenosis, Supravalvar NICHD Pediatric Terminology Neonatal Research Network Terminology Supraventricular_Arrhythmia C27158 An electrocardiographic finding of an arrhythmia originating in the atrium, AV node or AV junction. Supraventricular Arrhythmia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Supraventricular_Tachycardia C35061 An electrocardiographic finding of a tachycardia originating above the level of the ventricles. Supraventricular Tachycardia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Surfactant_Apoprotein_ABCA3_Deficiency C99070 Deficiency of surfactant protein ABCA3. It leads to respiratory distress that is often fatal. Surfactant Protein ABCA3 Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Surfactant_Apoprotein_A_Deficiency C99072 Deficiency of surfactant protein A. When present in normal amounts, this protein protects the lungs against a variety of bacteria, viruses, and fungi. Surfactant Protein A Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Surfactant_Apoprotein_Abnormality C99067 A congenital deficiency of one of the surfactant proteins. Surfactant Protein Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Surfactant_Apoprotein_B_Deficiency C99068 Deficiency of surfactant protein B. It presents with severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant. Surfactant Protein B Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Surfactant_Apoprotein_C_Deficiency C99069 Deficiency of surfactant protein C. It leads to progressive lung fibrosis. Surfactant Protein C Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Surfactant_Apoprotein_D_Deficiency C99071 Deficiency of surfactant protein D. When present in normal amounts, this protein offers protection against pulmonary infection and inflammation. Surfactant Protein D Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Surgical_Contraception_Method C92892 A method of achieving contraception with the aid of a surgical procedure that prevents fertilization of an egg by a sperm. Surgical Contraception _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Surgical_Incision C15384 An intentional cut made to an individual's body with the intent of performing a diagnostic or therapeutic intervention. Surgical Incision _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Surgical_Procedure C15329 A diagnostic or treatment procedure performed by manual and/or instrumental means, often involving an incision and the removal or replacement of a diseased organ or tissue; of or relating to or involving or used in surgery or requiring or amenable to treatment by surgery. Surgical Procedure _ NICHD Pediatric Terminology Suspected_Necrotizing_Enterocolitis C101273 The diagnosis assigned when a health care practitioner feels strongly the patient has necrotizing enterocolitis, but lacks definitive proof. Suspected Necrotizing Enterocolitis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Sweating C36172 The loss of a watery fluid, consisting mainly of sodium chloride and urea in solution, that is secreted by the sweat glands in the skin of mammals. Sweating _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Syndactyly C87125 A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly. Syndactyly _ NICHD Pediatric Terminology Neonatal Research Network Terminology Syndrome_of_Inappropriate_Vasopressin_Secretion C3988 A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. Inappropriate Antidiuretic Hormone Secretion Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Syndrome_of_Infant_of_Diabetic_Mother C98955 An infant that was born to a mother who persistently had high glucose blood levels during pregnancy. The infants of diabetic mothers are large for their gestational age and may develop hypoglycemic episodes soon after birth. Infant of Diabetic Mother _ IDM NICHD Pediatric Terminology Neonatal Research Network Terminology Systemic_Arterial_Hypertensive_Disorder C102954 Any condition resulting in systemically elevated blood pressure that is attributed to an arterial source. Systemic Arterial Hypertensive Disorder _ Hypertensive Disorder, Systemic Arterial NICHD Pediatric Terminology Neonatal Research Network Terminology Systemic_Disorder C9229 A clinical course finding indicating that a disease presents with systemic manifestations. Systemic Disease A disorder that affects in multiple tissue types or in multiple organ systemsis, or affects the body as a whole. NICHD Pediatric Terminology TPN_Acquired_Cholestasis C98619 Cholestasis that results from prolonged total parenteral nutrition. It is caused by diminished bile flow from the liver into the duodenum. It may result in cirrhosis and liver failure. Preterm infants are most susceptible to liver damage. Total Parenteral Nutrition - Associated Cholestasis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Tachyarrhythmia C38029 Tachycardia; an abnormally rapid heartbeat, usually applied to a heart rate above 100 per minute. Tachycardia Tachyarrhythmia is any disturbance of the heart rhythm in which the heart rate is abnormally increased. NICHD Pediatric Terminology Neonatal Research Network Terminology Tachysystole C92911 A frequency of uterine contraction that is higher than normal. Uterine Tachysystole _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Technique C16847 A practiced and regimented skill or series of actions. Technique _ NICHD Pediatric Terminology Teenage_Pregnancy C92939 A pregnancy in an adolescent between the ages of thirteen and nineteen. Teenage Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Telephone_Number C40978 A sequence of decimal digits (0-9) that is used for identifying a destination telephone line or other device in a telephone network. Telephone Number _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Temperature C25206 A measure of the average kinetic energy of a system of particles. Temperature may be quantified, in the context of thermodynamics, as the potential of one system to transfer thermal energy to another system until both systems reach a state of thermal equilibrium. Temperature _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Temporal_Qualifier C21514 Terms used to indicate units of time or other terms associated with time. Temporal Qualifier _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Testicular_Torsion C26885 An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue. Testicular Torsion _ NICHD Pediatric Terminology Neonatal Research Network Terminology Testosterone_Biosynthesis_Deficiency C102987 Inadequate production of circulating testosterone. Testosterone Biosynthesis Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Tetanus C85185 A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites. Tetanus _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Tetanus_Toxoid_Vaccine C2660 A preparation of formaldehyde-deactivated toxin isolated from the bacterium Clostridium tetani. Tetanus toxoid is used for booster injection and can stimulate the production of antitoxin antibodies. This agent may be used as an adjuvant in cancer vaccines. Tetanus Toxoid Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Tetanus_and_Diphtheria_Toxoids_Adsorbed C96405 A sterile, intramuscular suspension of alum (aluminum potassium sulfate)-precipitated toxoids indicated for active immunization for the prevention of tetanus and diphtheria for use in persons 7 years of age or older. Tetanus and Diphtheria Toxoids Adsorbed _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Tethered_Cord C99080 A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. Tethered Spinal Cord Syndrome _ Spinal Cord Syndrome NICHD Pediatric Terminology Neonatal Research Network Terminology Tetrahydrofolate_Methyltransferase_Deficiency C99081 A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly. Arakawa's Syndrome II _ NICHD Pediatric Terminology Neonatal Research Network Terminology Tetralogy_of_Fallot C84505 A congenital heart disorder characterized by the presence of the following four abnormalities: ventricular septal defect, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy. Tetralogy of Fallot _ NICHD Pediatric Terminology Neonatal Research Network Terminology Tetralogy_of_Fallot_-_Complete_AV_Canal_Defect C101322 A rare congenital heart anomaly in which there is coexistence of tetralogy of Fallot and complete atrioventricular septal defect. The latter is characterized by defects in the atrial and ventricular septa and a common atrioventricular valve. Complete Atrioventricular Septal Defect with Tetralogy of Fallot _ NICHD Pediatric Terminology Neonatal Research Network Terminology Thalassemia C35069 An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. Thalassemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Thalidomide_Embryopathy_Syndrome C99082 Congenital abnormalities in a fetus caused by thalidomide that the mother took during pregnancy. The congenital abnormalities include phocomelia, and malformations of the ears, eyes, nervous system, heart, and kidneys. Thalidomide-Induced Birth Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Thanatophoric_Dysplasia C85187 A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate. Thanatophoric Dysplasia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Therapeutic_Abortion C92894 Intentional end of pregnancy by the removal or expulsion of a fetus or embryo from the uterus to preserve the health of the gravida (pregnant female). Therapeutic Abortion Procedure _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Therapeutic_Procedure C49236 An action or administration of therapeutic agents to produce an effect that is intended to alter or stop a pathologic process. Therapeutic Procedure _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Third_Stage_of_Labor C92895 A stage during labor and childbirth that starts with the birth of the baby and ends with the delivery of the placenta. Third Stage of Labor _ Placental Stage NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Third_Trimester C92896 The period of gestation that ranges from the 28th week of pregnancy until delivery. Third Trimester _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Thoracic_Meningocele C101213 A congenital abnormality in the thoracic region of the spine in which the meninges protrude through a defect in the spinal column. Thoracic Meningocele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Thoracic_Myelocele C99128 Herniation of spinal cord tissue and meninges through a defect in the thoracic region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. Thoracic Myelocele _ NICHD Pediatric Terminology Neonatal Research Network Terminology Thoracic_Myelomeningocele C101208 A congenital abnormality in the thoracic region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. Thoracic Myelomeningocele _ Thoracic Meningomyelocele NICHD Pediatric Terminology Neonatal Research Network Terminology Thorax C12799 The division of the body lying between the neck and the abdomen. Thorax _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Thrombocytopenia C3408 A condition in which there is an abnormally small number of platelets in the circulating blood. Thrombocytopenia _ Thrombocytopenic_Disorder NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Thrombocytosis C35530 A hematology test result that indicates the presence of higher than normal platelet counts in the peripheral blood. Thrombocytosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Thrombophilia C84479 A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. Excessive Blood Clotting NICHD Pediatric Terminology Thyroglossal_Duct_Cyst C85189 A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck. Thyroglossal Duct Cyst _ NICHD Pediatric Terminology Neonatal Research Network Terminology Thyrotropin_Measurement C64813 A quantitative measurement of the amount of thyrotropin present in a sample. Thyrotropin Measurement _ Thyroid_Stimulating_Hormone_Measurement NICHD Newborn Screening Terminology Neonatal Research Network Terminology Time C25207 The continuum of experience in which events pass from the future through the present to the past. Time _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Tocodynamometry C92897 The recording of uterine muscle contractions during pregnancy and labor. Tocodynamometry _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Toddler C89342 A child that is approximately between 12 and 18 months of age. Toddler _ NICHD Pediatric Terminology Toddler_Stage C89890 The period of life between 13 months and 2 years of age. Toddler Stage A human life stage that begins at thirteen months of age and continues until twenty-four complete months of age. NICHD Pediatric Terminology Toe C33788 One of the terminal digits of the foot. Toe _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Tonic_Neck_Reflex C81324 An involuntary, primal response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward. Tonic Neck Reflex _ NICHD Pediatric Terminology Neonatal Research Network Terminology Total_Body_Length C81298 The total linear extent of the body. Total Body Length _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Total_Colonic_Aganglionosis C101040 The severe form of Hirschsprung disease, this is characterized by a complete lack of nerve cells in the large intestine, and often a partial lack in the small intestine. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary. Total Colonic Aganglionosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Total_Intestinal_Aganglionosis C101074 A complete lack of ganglia in the intestine. This is an extremely severe form of Hirschsprung Disease. Total Intestinal Aganglionosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Total_Thyroxine_Measurement C74794 The determination of the amount of free and bound thyroxine present in a sample. Total Thyroxine Measurement _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Tourette_s_Syndrome C35078 A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen. Tourette Syndrome _ NICHD Pediatric Terminology NICHD Neurological Development Terminology Townes_Syndrome C99085 An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities. Townes-Brocks Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Toxemia C34943 A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. Toxemia of Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Toxic_Methemoglobinemia_with_Cyanosis C34817 An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood. Signs and symptoms include cyanosis, dyspnea, headache, fatigue, mental status changes, and loss of consciousness. Methemoglobinemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Toxoid_Vaccine C96398 Any vaccine that contains an inactivated toxic substance used for disease prophylaxis or to vaccinate against snake bites. Toxoid Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Toxoplasmosis C3418 A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii. Toxoplasmosis _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Toxoplasmosis_Other_Infections_Rubella_Cytomegalovirus_and_Herpes_Simplex_Virus_TORCH_Antibody_Panel_Measurement C98602 A group of blood tests used to detect antibodies to Toxoplasma gondii, rubella, cytomegalovirus, and herpes simplex virus to rule out congenital infections. A group of other infections may be tested as well, including varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. TORCH Antibody Measurement _ NICHD Pediatric Terminology Neonatal Research Network Terminology Toxoplasmosis_Other_Infections_Rubella_Cytomegalovirus_and_Herpes_Simplex_Virus_TORCH_Syndrome C98609 A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. TORCH Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Tracheal_Cleft C98622 A rare congenital abnormality in the laryngo-tracheal wall. It results from the incomplete development of the tracheoesophageal septum. Signs and symptoms include coughing, cyanosis, repeated pulmonary infections, and failure to gain weight. Laryngeal Cleft _ Congenital Cleft Larynx NICHD Pediatric Terminology Neonatal Research Network Terminology Tracheal_Disorder C35079 A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma. Tracheal Disorder _ Disorder of Trachea NICHD Pediatric Terminology Neonatal Research Network Terminology Tracheal_Stenosis C78646 Narrowing of the lumen of the trachea. Tracheal Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Tracheal_Web C98629 A rare congenital or acquired abnormality characterized by the presence of a web-like thin layer of tissue that narrows the lumen of the trachea. It may result in wheezing, dyspnea, and respiratory failure. Tracheal Web _ NICHD Pediatric Terminology Neonatal Research Network Terminology Tracheoesophageal_Fistula C35080 A congenital or acquired abnormal communication between the trachea and the esophagus. Tracheoesophageal Fistula _ NICHD Pediatric Terminology Neonatal Research Network Terminology Tracheomalacia C98634 A congenital or acquired abnormality of the wall of the trachea. In congenital cases, there is lack of rigidity in the cartilage of the tracheal wall. In acquired cases, the cartilage of the tracheal wall is degenerated, secondary to tracheostomy or prolonged presence of a breathing tube, or as a complication of a tracheoesophageal fistula surgical repair. Symptoms include stridor, noisy breathing, and upper respiratory infections. Tracheomalacia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Transferase_Deficient_Galactosemia C81325 A disorder characterized by the body's inability to metabolize galactose. This type of galactosemia is caused by germline mutations in the GALT gene which leads to the inhibition in the activity of the enzyme galactose-1-phosphate uridyl transferase. Transferase Deficiency Galactosemia _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Transient_Neonatal_Thrombocytopenia C98995 Thrombocytopenia that develops in neonates. It is caused by the development of antibodies against platelet antigens and may lead to hemorrhage. Transient Neonatal Thrombocytopenia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Transitional_Phase_of_Labor C92942 The period during the first stage of labor and childbirth that involves strong uterine contractions and maximal cervical dilatation. Transition Phase of Labor _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Transitory_Tachypnea_of_Newborn C101037 A respiratory disorder characterized by higher than normal respiratory rates among premature and cesarean section delivered neonates whose lungs have not fully matured. The cause is often excess fluid in the lungs, and resolution is aided by suupplemental oxygen and sometimes, antibiotics. Transient Tachypnea of the Newborn _ NICHD Pediatric Terminology Neonatal Research Network Terminology Transposition_of_Great_Vessels C84742 A congenital cardiac defect in which two heart vessels are reversed (transposed). Transposition of Great Vessels _ NICHD Pediatric Terminology Neonatal Research Network Terminology Transverse_Fetal_Presentation C92898 A fetal position during delivery in which the alignment of the spine of the fetus is not parallel to the mother's spine. Transverse Fetal Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Transverse_Occiput C92899 A fetal position during delivery in which the face is towards one of the mother's thighs while descending into the birth canal. Transverse Occiput Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Traumatic_Chylothorax C101274 Accumulation of lymph fluid in the pleural cavity as a result of thoracic trauma. Traumatic Chylothorax _ NICHD Pediatric Terminology Neonatal Research Network Terminology Traumatic_Injury C3671 Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. Injury _ NICHD Pediatric Terminology Neonatal Research Network Terminology Treacher_Collins_Syndrome C75018 A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures. Treacher Collins Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Tremor C38038 The shaking movement of the whole body or just a certain part of it, often caused by problems of the neurons responsible for muscle action. Tremor _ NICHD Pediatric Terminology Neonatal Research Network Terminology Tricuspid_Valve_Regurgitation C50843 The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve. Tricuspid Regurgitation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Tricuspid_Valve_Stenosis C50783 Narrowing or stricture of the tricuspid orifice of the heart. Tricuspid Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Trimester C69121 A period of three months; especially one of the three three-month periods into which human pregnancy is divided. Trimester _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Triple_Screen C92900 A screening method in which maternal blood levels of alpha-fetoprotein, unconjugated estriol and human chorionic gonadotrophin are calculated. The results are subsequently evaluated in relation to the mother's age, weight and fetal gestational age. Triple Screen _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Triploidy_Syndrome C85204 A very rare congenital syndrome characterized by the presence of three haploid sets of chromosomes. The surviving infants have multiple severe birth defects. Triploidy Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Trivalent_Influenza_Vaccine C2643 A synthetic vaccine consisting of three inactivated influenza viruses, two different influenza type A strains and one influenza type B strain. Trivalent influenza vaccine is formulated annually, based on influenza strains projected to be prevalent in the upcoming flu season. This agent may be formulated for injection or intranasal administration. Trivalent Influenza Vaccine _ Flu prevention; Flu prophylaxis; Flu shot; Flu vaccination NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Tubal_Ligation C92901 A method of female sterilization where the fallopian tubes are surgically ligated to prevent conception. Tubal Ligation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Tubal_Pregnancy C92946 An ectopic pregnancy that occurs in the fallopian tube instead of the uterine corpus. Causes include pelvic inflammatory disease and prior pelvic surgery. It may result in severe abdominal pain, vaginal bleeding, and tubal rupture. Tubal Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Tuberous_Sclerosis_Syndrome C3424 Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. Tuberous Sclerosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Turner_Syndrome C26900 A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility. Turner Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ty21a_Typhoid_Vaccine C97126 A live attenuated oral virus vaccine used to prevent typhoid, which is caused by Salmonella typhi. Ty21a Typhoid Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Type_1_Thanatophoric_Dysplasia C98583 Thanatophoric dysplasia characterized by a normally shaped skull and curved femurs. It is the most common type of thanatophoric dysplasia. Type 1 Thanatophoric Dysplasia _ Thanatophoric Dysplasia, Type 1 NICHD Pediatric Terminology Neonatal Research Network Terminology Type_2_Thanatophoric_Dysplasia C98584 Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. Type 2 Thanatophoric Dysplasia _ Thanatophoric Dysplasia, Type 2 NICHD Pediatric Terminology Neonatal Research Network Terminology Type_II_Intracardiac_Total_Anomalous_Pulmonary_Venous_Return C98592 Total anomalous pulmonary venous return in which the pulmonary veins drain into the right atrium via the coronary sinus. Type II Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 2, intracardiac TAPVR, the pulmonary veins come together behind the heart and then drains to the right atrium through the coronary sinus. The coronary sinus is the vein that normally returns blood from the heart muscle itself back to the right atrium after its oxygen has been depleted. The coronary sinus drains directly into the right atrium. Total Anomalous Pulmonary Venous Return, Type II (Intracardiac) NICHD Pediatric Terminology Neonatal Research Network Terminology Type_IV_Mixed_Total_Anomalous_Pulmonary_Venous_Return C98598 Total anomalous pulmonary venous return in which the right and left pulmonary arteries drain into different sites. Type IV Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 4, TAPVR,the right and left pulmonary arteries drain into different sites. Total Anomalous Pulmonary Venous Return, Type IV (Mixed) NICHD Pediatric Terminology Neonatal Research Network Terminology Type_I_Supracardiac_Total_Anomalous_Pulmonary_Venous_Return C98590 Total anomalous pulmonary venous return in which the pulmonary veins drain into the right atrium via the superior vena cava. Type I Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 1, supracardiac TAPVR, the pulmonary veins drain to the right atrium via the superior vena cava. In this type of TAPVR, the pulmonary veins come together behind the heart and then drain upwards to an abnormal vertical vein. This vein joins the innomiate vein which connects to the right superior vena cava and drains to the right atrium. Total Anomalous Pulmonary Venous Return, Type I (Supracardiac) NICHD Pediatric Terminology Neonatal Research Network Terminology Typhoid_Fever C35089 A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics. Typhoid Fever _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Tyrosinemia_Type_I C98641 Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. Type I Tyrosinemia _ NICHD Pediatric Terminology Neonatal Research Network Terminology US_State C30010 One of the fifty states which is a member of the federation known as the United States of America. Other US geographic areas, such as Puerto Rico and the District of Columbia, are essentially equivalent to State when used in an address. US State _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology UTP-Hexose-1-Phosphate_Uridylyltransferase_Deficiency C99104 An inherited metabolic disorder characterized by increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental delays, liver damage and jaundice, cataract, and ovarian failure. UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ultrasound_Imaging C17230 A technique in which high-frequency sound waves are bounced off internal organs and the echo pattern is converted into a 2 dimensional picture of the structures beneath the transducer. Ultrasonography _ Ultrasound NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Umbilical_Cord_Compression C92902 An abnormal situation in utero, when there is increased pressure on the umbilical cord, which constricts blood supply to the fetus. Umbilical Cord Compression _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Umbilical_Cord_Prolapse C87126 An obstetric emergency when the umbilical cord is pushed into the vagina ahead of the baby and becomes compressed, cutting off the flow of blood to the baby. Umbilical Cord Prolapse _ Prolapsed Cord NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Undescended_Testis C12326 The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. Undescended Testis _ Undescended_Testicle NICHD Newborn Screening Terminology Neonatal Research Network Terminology Unilateral_Anophthalmos C101188 A rare congenital abnormality characterized by the complete absence of ocular tissue in one orbit. Unilateral Anophthalmos _ Anophthalmos, Unilateral NICHD Pediatric Terminology Neonatal Research Network Terminology Unilateral_Hypoplasia_of_the_Optic_Nerve C101269 A congenital abnormality characterized by the underdevelopment of one optic nerve. Unilateral Optic Nerve Hypoplasia _ Hypoplasia of the Optic Nerve, Unilateral NICHD Pediatric Terminology Neonatal Research Network Terminology Unilateral_Microphthalmos C101190 A congenital abnormality characterized by the presence of one abnormally small eye globe and one normally sized eye globe. Unilateral Microphthalmos _ Microphthalmos, Unilateral NICHD Pediatric Terminology Neonatal Research Network Terminology Unilateral_Renal_Agenesis C101220 A congenital abnormality characterized by the absence of one kidney. Unilateral Renal Agenesis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Unit_of_Measure C25709 A named quantity in terms of which other quantities are measured or specified, used as a standard measurement of like kinds. Unit of Measure _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Unit_per_Gram C77606 An arbitrary unit of substance content expressed in unit(s) per gram. Unit per Gram _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Urea_Cycle_Metabolism_Disorder C84785 A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. Inborn Urea Cycle Disorder _ Disorder of Urea Cycle Metabolism NICHD Pediatric Terminology Neonatal Research Network Terminology Urge_to_Push C92903 A characteristic sign of impending birth in the mother during the second stage of labor; she feels like bearing down due to the pressure of the baby in the birth canal. Urge to Push _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Urinary_System_Disorder C3430 Disorders of any part of the urologic system. Urinary System Disorder _ Disorder of Urinary System NICHD Pediatric Terminology Neonatal Research Network Terminology Urinary_Tract_Infection C50791 A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. Urinary Tract Infection _ Urinary_Tract_Infectious_Disease NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Urinary_Tract_Obstruction C79805 Blockage of the normal flow of contents of the urinary tract. Urinary Tract Obstruction _ NICHD Pediatric Terminology Neonatal Research Network Terminology Uterine_Contraction C92904 A tightening of the involuntary smooth muscles of the uterus. Uterine Contraction _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Uterine_Involution C92909 Atrophy or reduction of the size of the uterine corpus. Uterine Involution _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Uterine_Souffle C92910 A soft murmur heard in auscultating a pregnant uterus. It is caused by the increased vascularity of pregnancy. Uterine Souffle _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Uterus_Absent C99103 A congenital abnormality characterized by the complete absence of the uterus. Uterine Agenesis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Vaccine C923 Preparations containing substances with antigenic properties administered to activate the immune system, thereby inducing an immune response. Vaccines range from inactivated or attenuated microorganisms (bacteria and viruses), enhanced autologous tumor cells, tumor antigens or epitopes that are used to elicit host immune responses. Vaccines are used for the prevention, amelioration, or treatment of infectious diseases and cancer. Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Vacuum_Assisted_Vaginal_Delivery C81300 The method referring to the delivery of a fetus through the vaginal canal with assistance of a vacuum extractor device. Vacuum Assisted Vaginal Delivery _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Vaginal_Assisted_Delivery C81301 The method referring to the use of medical devices such as vacuum extractor or forceps to assist with the delivery of a fetus. Vaginal Assisted Delivery _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Vaginal_Birth_Mechanism C92912 The natural processes involved in giving birth vaginally. Vaginal Birth Mechanism _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Vaginal_Birth_after_Cesarean C81302 The method referring to the delivery of a fetus through the vaginal canal after the mother has had a cesarean delivery with a previous pregnancy. Vaginal Birth after Cesarean _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Vaginal_Bleeding C92913 Hemorrhage from the vagina that may range from light spotting to heavy flow during pregnancy. Vaginal Bleeding during Pregnancy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Vaginal_Delivery C81303 The method referring to the delivery of a fetus through the vaginal canal. Vaginal Delivery _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Vaginal_Diaphragm C42767 A medical contraceptive device of soft flexible material, usually of thin rubber, that is designed to cover the cervix uteri prior to sexual intercourse to prevent the entry of spermatozoa. To enhance efficacy, a spermicidal agent is often placed within the device. Antimicrobial agent(s) can also be used to prevent sexually transmitted diseases. Efficacy of vaginal diaphragm against infections is very limited. Vaginal Diaphragm A contraceptive device made of soft flexible material, usually of thin rubber, that is designed to cover the cervix uteri prior to sexual intercourse to prevent the entry of spermatozoa. NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Vaginal_Ring C91199 A ring composed of active and/or inert ingredient(s), intended for administration in or around the vagina. Vaginal Ring Dosage Form A contraceptive device in the shape of a ring composed of active and/or inert ingredient(s), intended for administration in or around the vagina, to prevent conception. NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Vagus_Nerve_Laryngeal_Paralysis C78592 Paralysis of the recurrent laryngeal nerve. Causes include surgical and non-surgical traumas, neoplasms (e.g., lung carcinoma), and inflammatory neuritis. Recurrent Laryngeal Nerve Paralysis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Van_Der_Woude_Syndrome C74986 A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities. Van der Woude Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Variable_Deceleration C92914 An irregular decrease in the fetal heart rate after the peak of an uterine contraction. Variable Fetal Heart Rate Deceleration _ Finding_of_Variable_Deceleration NICHD Pregnancy and Childbirth Terminology Neonatal Research Network Terminology Varicella-Zoster_Virus C71091 An icosahedral, enveloped virus containing a single molecule of linear double-stranded DNA of 125000 nucleotides that infects only humans. It is the causative agent of chickenpox and shingles. Human Herpesvirus 3 _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Varicella-Zoster_Virus_Infection C96407 A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles (herpes zoster) or chicken pox. Varicella Zoster Infection _ NICHD Pediatric Terminology Neonatal Research Network Terminology Varicella_Vaccine C96395 A live attenuated virus vaccine used to prevent chickenpox and shingles, which is caused by varicella-zoster virus (VZV). Varicella Vaccine _ Chickenpox Vaccine; Shingles Vaccine NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Vasa_Previa C87127 A serious condition in which blood vessels of the umbilical cord or the placenta cross the entrance to the birth canal, beneath the fetus; this can lead to rapid fetal blood loss during labor and delivery if the blood vessels tear as the cervix dilates and the membranes rupture. Vasa Previa _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Vascular_Ring_of_Aorta C99106 An unusual congenital abnormality in which the aorta or aortic branches encircle the trachea and esophagus. Signs and symptoms include difficulty swallowing and eating, persistent cough, noisy breathing, and acid reflex. Vascular Ring _ NICHD Pediatric Terminology Neonatal Research Network Terminology Vasectomy C15348 Surgical removal of part or all of the vas deferens. Vasectomy _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Vein_of_Galen_Malformation C98642 An arteriovenous malformation in the vein of Galen that is located at the base of the brain. The malformation may result in developmental delays, hydrocephalus, seizures, and congestive heart failure. Vein of Galen Malformation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Venous_Stenosis C98643 A finding indicating narrowing of a vein in one or multiple areas. Venous Stenosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Venous_Thrombosis C99107 The formation of a blood clot (thrombus) in the lumen of a vein. Venous Thrombosis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ventricular_Arrhythmia C26924 An electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles. Ventricular Arrhythmia _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ventricular_Fibrillation C50799 An arrhythmia characterized by rapid, usually more than 300 bpm (cycle length: 180 ms or less), grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. Ventricular Fibrillation _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ventricular_Septal_Defect C84506 The presence of a defect (opening) in the septum that separates the two ventricles of the heart. The VSD can be congenital or acquired. Ventricular Septal Defect _ NICHD Pediatric Terminology Neonatal Research Network Terminology Ventricular_Tachycardia C50802 An arrhythmia characterized by 3 or more consecutive complexes in duration emanating from the ventricles at a rate of greater than 100 bpm (cycle length: less than 600 ms). Ventricular Tachycardia _ Pediatric Non-Congenital Ventricular Tachycardia NICHD Pediatric Terminology Neonatal Research Network Terminology Vernier_Caliper C81184 A medical device that is a combination of ruler and caliper that can measure the distance between two points. The configuration of this device permits the measurement of internal dimensions. Vernier Caliper An instrument for measuring external or internal dimensions. It consists of an L-shaped frame with a linear scale along its longer arm and an L-shaped sliding attachment with a vernier, used to read directly the dimension of an object represented by the separation between the inner or outer edges of the two shorter arms. NICHD Pediatric Terminology NICHD Newborn Screening Terminology Vernix_Caseosa C34328 A white cheese-like protective material that covers the skin of a fetus. Vernix Caseosa _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Vertebral_Abnormalities_Anal_Atresia_Cardiac_Abnormalities_Tracheo-Esophageal_Fistula_Renal_Anomalies_Limb_Defects_Syndrome C99105 An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities. VACTERL Association _ NICHD Pediatric Terminology Neonatal Research Network Terminology Vertebral_Column C12998 A series of bones, muscles, tendons, and other tissues reaching from the base of the skull to the tailbone. The vertebral column forms the axis of the skeleton and encloses as well as protects the spinal cord and the fluid surrounding the spinal cord. Vertebral Column _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Vertex_Presentation C92917 A fetal position during delivery in which the head of the fetus is flexed and it is first to descend into the birth canal. Vertex Presentation _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Very_Long_Chain_Acyl-CoA_Dehydrogenase_Deficiency C98647 An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis. Acyl-CoA Dehydrogenase, Very Long-Chain Deficiency _ VLCAD; Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency NICHD Pediatric Terminology Neonatal Research Network Terminology Vesicoureteric_Reflux C84467 Abnormal flow of urine from the urinary bladder back into the ureters. Vesicoureteral Reflux _ NICHD Pediatric Terminology Neonatal Research Network Terminology Vi_Capsular_Polysaccharide_Typhoid_Vaccine C97127 A live attenuated injectable virus vaccine used to prevent typhoid, which is caused by Salmonella typhi. Vi Capsular Polysaccharide Typhoid Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Viral_Disease C3439 Any disease caused by a virus. Viral Infection _ Viral Infection NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Virus C14283 An infectious agent which consists of two parts, genetic material and a protein coat. These organisms lack independent metabolism, and they must infect the cells of other types of organisms to reproduce. Most viruses are capable of passing through fine filters that retain bacteria, and are not visible through a light microscope. Virus _ NICHD Pediatric Terminology Vision_Disorder C35126 Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from eye diseases, optic nerve diseases, visual pathway diseases, occipital lobe diseases, ocular motility disorders' and other conditions. Vision Disorder _ Visual_System_Disorder; Disorder of Visual System NICHD Neurological Development Terminology Neonatal Research Network Terminology Visual_Cortex_Disorder C35275 A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information. Visual Cortex Disorder _ Cortical Visual Impairment NICHD Pediatric Terminology NICHD Neurological Development Terminology Vital_Sign_Measurement C49672 A character or string that represents the vital signs examination. Vital Signs _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Vitamin_B6_Deficiency C85221 Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia. Vitamin B6 Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Vitamin_Deficiency C35772 A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. Vitamin Deficiency Disorder _ NICHD Pediatric Terminology Neonatal Research Network Terminology Vitamin_K C943 The term "vitamin K" refers to a group of chemically similar fat-soluble compounds called naphthoquinones: vitamin K1 (phytonadione) is found in plants and is the primary source of vitamin K for humans through dietary consumption, vitamin K2 compounds (menaquinones) are made by bacteria in the human gut, and vitamin K3 (menadione) is a water-soluble preparation available for adults only. Vitamin K is necessary for the liver to produce the coagulation factors II, VII, IX, and X, as well as the clotting factors protein C, protein S, and protein Z; vitamin K deficiency can result in deficiencies of these coagulation factors and excess bleeding. An injection of vitamin K is routinely given to newborn infants to prevent vitamin K deficiency bleeding, also known as hemorrhagic disease of the newborn. Vitamin K deficiency is rare in adults but may result from chronic malnutrition or an inability to absorb dietary vitamins. Vitamin K _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Vitamin_K_Deficiency_Coagulation_Disorder C99108 Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding. Vitamin K Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology Vocal_Cord_Palsy C47814 Paralysis of the muscles of one or both vocal cords. Signs and symptoms include hoarseness, weak voice, dyspnea, and coughing. Affected individuals are at risk for aspiration pneumonia. Vocal Cord Paralysis _ NICHD Pediatric Terminology Neonatal Research Network Terminology Voice_Finding C61043 Change in the sound and/or speed of the voice. Causes include laryngeal polyp, laryngitis, laryngeal carcinoma, throat carcinoma, Parkinson's disease, multiple sclerosis, stroke, hypothyroidism, oral surgery, tracheostomy, tracheal injury, and laryngeal injury. Voice Alteration _ NICHD Pediatric Terminology Neonatal Research Network Terminology Vomiting C3442 The reflex act of ejecting the contents of the stomach through the mouth. Vomiting _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Von_Willebrand_Disorder C68677 Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding. von Willebrand Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Waardenburg_s_Syndrome C85222 A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes. Waardenburg Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Walker-Warburg_Muscular_Dystrophy C99109 A rare autosomal recessive inherited muscular dystrophy. It presents with generalized hypotonia, muscle weakness, mental retardation, developmental delays, and brain and eye abnormalities. Walker-Warburg Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Wandering_Atrial_Pacemaker C62240 An electrocardiographic finding of an impulse origination site other than the sino-atrial node. Variations within P waves and PR intervals occur and an irregular rate of impulse formation is observed. Wandering Atrial Pacemaker _ NICHD Pediatric Terminology Neonatal Research Network Terminology Watery_Stool C87128 Frequent, loose, and watery stools are noted in most infants, even if they are fed formula, until they are six to eight weeks old; after that, the stools become firmer and less frequent. Watery Stool _ Liquid_Stool NICHD Newborn Screening Terminology Neonatal Research Network Terminology Weak_Breathing C87129 Shallow inhalations and exhalations that indicate respiratory distress. Weak Breathing _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Weight_Gain C62754 An increase in overall body mass. Weight Gain _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Werdnig-Hoffmann_Disease C98670 The most severe form of spinal muscular atrophy. It is manifested in the first year of life with muscle weakness, poor muscle tone, and lack of motor development. The motor neuron death affects the major organ systems, particularly the respiratory system. Most patients die before the age of two secondary to pneumonia. Werdnig-Hoffmann Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Wheezing C78718 A symptom and a finding during physical examination, characterized by a high-pitched, whistling sound during breathing. It results from the narrowing or obstruction of the respiratory airways. The most common causes of wheezing are asthma, chronic obstructive pulmonary disease, tracheobronchitis, and pulmonary edema. Wheezing _ NICHD Pediatric Terminology Neonatal Research Network Terminology Williams_Syndrome C85232 A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia. Williams Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Withdrawal_Contraception C92919 A birth control method adopted during sexual intercourse by withdrawing the penis from the vagina before ejaculation. Withdrawal Contraception _ NICHD Pediatric Terminology NICHD Pregnancy and Childbirth Terminology Wolff-Parkinson-White_Syndrome C35132 A congenital electrical function abnormality in the heart. It is characterized by the presence of an accessory conductive pathway between the atria and the ventricles which causes the activation of the ventricles earlier than anticipated. Characteristic electrocardiographic findings are a short PR interval and a wide QRS complex with a delta wave. Wolff-Parkinson-White Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology Wolman_s_Disease C61271 A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands. Wolman Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology Yawning C87131 An involuntary deep inhalation with the mouth open, often a sign of drowsiness or boredom. Yawning _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Yellow_Fever_Vaccine C96396 A live, attenuated viral vaccine to prevent yellow fever, endemic to parts of Africa and South America. Yellow Fever Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Yellow_Fever_Virus_Infection C35547 A viral infection caused by a flavivirus called yellow fever virus. It is transmitted to humans from infected mosquitoes. The signs and symptoms range from a mild febrile illness to liver damage with jaundice and hemorrhages. Yellow Fever Virus Infection _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology Yes C49488 The affirmative response to a question. Yes _ NICHD Pediatric Terminology NICHD Newborn Screening Terminology Zellweger_Syndrome C85239 A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia. Zellweger Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology _3-Methylglutaconic_Aciduria_Type_1 C98683 3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. Signs and symptoms include psychomotor developmental abnormalities, speech delay, weakness and spasm of the extremities, dystonia, and metabolic acidosis. 3-Methylglutaconic Aciduria Type 1 _ NICHD Pediatric Terminology Neonatal Research Network Terminology _3-Oxo-5_Alpha-Steroid_Delta_4-Dehydrogenase_Deficiency C98699 An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism. 5 Alpha Steroid Reductase 2 Deficiency _ NICHD Pediatric Terminology Neonatal Research Network Terminology _5_10-Methylenetetrahydrofolate_Reductase_Deficiency C84524 A rare disorder associated with mental retardation, spasticity, and early death. 5' 10' Methylenetetrahydrofolate Reductase Deficiency 5,10-Methylenetetrahydrofolate reductase deficiency is the most prevalent inborn error of folate metabolism, and has variable clinical manifestations from asymptomatic to severe psychomotor retardation, microcephalus and seizure. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. NICHD Pediatric Terminology Neonatal Research Network Terminology C3718 A very rare congenital condition involving the complex of Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology C84585 A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria. Barth Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology C34518 A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure. Cri du Chat Syndrome _ NICHD Pediatric Terminology Neonatal Research Network Terminology C81282 The numerical value that represents a clinical assessment of neurological and physical criteria, performed between birth and five days of age, to determine an infant's gestational age and maturity. Dubowitz Score _ Dubowitz_Score NICHD Newborn Screening Terminology Neonatal Research Network Terminology C91718 A vaccine containing detoxified tetanus toxoid and detoxified diphtheria toxoid adsorbed on aluminum phosphate with active immunizing activity against diphtheria and tetanus. Intramuscular injection with this vaccine activates the immune system to develop antibodies against tetanus toxin and diphtheria toxin. Diphtheria Toxoid/Tetanus Toxoid Vaccine Adsorbed _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology C91717 A vaccine containing detoxified tetanus toxoid, detoxified diphtheria toxoid and acellular pertussis antigens, adsorbed on aluminum phosphate, with active immunizing activity against diphtheria, tetanus and pertussis. The acellular pertussis vaccine components, produced by Bordetella pertussis, are detoxified pertussis toxin (PT), filamentous hemagglutinin (FHA), pertactin (PRN) and fimbriae types 2 and 3 (FIM). Intramuscular injection with this vaccine activates the immune system to develop antibodies against tetanus toxin, diphtheria toxin and B. pertussis antigens. Diphtheria Toxoid/Tetanus Toxoid/Acellular Pertussis Vaccine Adsorbed _ DTP vaccine NICHD Pediatric Terminology NICHD Childhood Immunization Terminology C97122 A vaccine containing detoxified tetanus toxoid, detoxified diphtheria toxoid and inactivated pertussis antigens. Diphtheria Toxoid/Tetanus Toxoid/Inactivated Pertussis Vaccine _ NICHD Pediatric Terminology NICHD Childhood Immunization Terminology C99208 Symptoms, physical examination results, and/or laboratory test results related to the eye. Eye Finding _ NICHD Pediatric Terminology Neonatal Research Network Terminology C61269 An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia. Niemann-Pick Disease _ NICHD Pediatric Terminology Neonatal Research Network Terminology C98597 Total anomalous pulmonary venous return in which the common pulmonary vein connects to the portal venous system through the diaphragm. Type III Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 3, infracardiac TAPVR, the pulmonary veins drain to the right atrium via the hepatic (liver) veins and inferior vena cava. In this type, the pulmonary veins join together behind the heart and then typically drain downwards, connecting to the liver's portal vein system. They then drain through the vascular bed of the liver and enter the right atrium from the hepatic veins. Total Anomalous Pulmonary Venous Return, Type III (Infradiaphragmatic/Infracardiac) NICHD Pediatric Terminology Neonatal Research Network Terminology