Ontology
comment: An ontology to define assertions about resources. This can be used for testing constraints in tools like Protege-OWL.

Patient CF with clearance of airway
type: Class
equivalent class: Class
  intersection of: Patient CF with therapy
  intersection of: Restriction
    on property: treat by
    some values from: Clearance of airway
subclass of: Restriction
  some values from: Class
    intersection of: Increased value of mucus clearance
    intersection of: Short term effect
  on property: has manifestation
comment: [airway clearance techniques have short-term effects in the terms of increasing mucus transport]

Clearance of airway
type: Class
subclass of: Therapy
comment: Concept: Clearance of airway CUI: C1537104 Semantic Type: Therapeutic or Preventive Procedure Definition: None found

Antibiotic
type: Class
comment: Semantic Type: Antibiotic TUI: T195 Definition: A pharmacologically active compound produced by growing microorganisms which kill or inhibit growth of other microorganisms.
subclass of: Pharmacologic substance

Cell component
type: Class
subclass of: Anatomical structure
comment: Semantic Type: Cell Component TUI: T026 Definition: A part of a cell or the intercellular matrix, generally visible by light microscopy.

Anatomical structure
type: Class
subclass of: Physical object
comment: Semantic Type: Anatomical Structure TUI: T017 Definition: A normal or pathological part of the anatomy or structural organization of an organism.

Tyr
type: Class
subclass of: Amino acids
comment: [Abbreviation: Tyr, Y; Tyrosine]
comment: Concept: Tyrosine CUI: C0041485 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin. (MeSH) amino acid, p-hydroxyphenylalanine, found in most proteins, synthesized metabolically from phenylalanine; a precursor of thyroid hormones, catecholamines, and melanin. (CRISP Thesaurus)

Amino acids
type: Class
subclass of: Amino acid peptide or protein
comment: Concept: Amino Acids CUI: C0002520 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. (MeSH) organic acid containing one or more amino groups, especially any of a group that make up proteins and are important to living cells; those that are nonessential can be synthesized by the body while essential acids must be obtained through the diet; there are also several important amino acids, such as the neurotransmitter g-aminobutyric acid, that have no relation to proteins. (CRISP Thesaurus) Organic compounds containing amino (-NH2) and carboxyl (-COOH) groups. In biochemistry, used to refer to the twenty-plus L-alpha-amino acids found in proteins. (NCI Thesaurus)

Pharmacotherapy
type: Class
comment: Concept: Pharmacotherapy CUI: C0013216 Semantic Type: Therapeutic or Preventive Procedure Definition: application of the beneficial effects of drugs to control or cure diseases or abnormal states in living organisms or tissues. (CRISP Thesaurus) Mandatory term applied to studies dealing with the use of drugs in the clinical treatment of diseases or psychological disorders. Used for human or animal populations. For the use of drugs in non-clinical contexts, use PHARMACOLOGY or PSYCHOPHARMACOLOGY. (Psychological Index Terms) [Synonyms:drug therapy]
subclass of: Therapy

A transition G
type: Class
comment: A is changed to G, nucleotide in cDNA
equivalent class: Class
  intersection of: Restriction
    some values from: A
    on property: substitute from
  intersection of: Restriction
    some values from: G
    on property: substitute with
  intersection of: Nucleotide transition

A
type: Class
subclass of: Purines and derivatives
subclass of: Nucleotide
comment: dAMP, deoxyadenosine monophosphate,in DNA

G
type: Class
comment: dGMP, deoxyguanosine monophosphate,in DNA
subclass of: Purines and derivatives
subclass of: Nucleotide

Male
type: Class
subclass of: Sex group
comment: Concept: Male gender CUI: C0024554 Semantic Type: Organism Attribute Definition: use in conjunction with a disease, disorder, dysfunction, body system, or function which is gender specific. (CRISP Thesaurus) Used for all-male populations when sex is pertinent to the focus of the study. For comparison of sexes use HUMAN SEX DIFFERENCES. (Psychological Index Terms) In zoology, denoting the sex to which those belong that produce spermatozoa; an individual of that sex. (NCI Thesaurus) Male (HL7 Version 3.0)
disjoint with: Female

Female
type: Class
subclass of: Sex group
disjoint with: Male
comment: Concept: Female CUI: C0015780 Semantic Type: Organism Attribute Definition: use in conjunction with a disease, disorder, dysfunction, body system, or function which is gender specific. (CRISP Thesaurus) In zoology, denoting the sex that bears the young or the ovum. (NCI Thesaurus) Female (HL7 Version 3.0)

C transition T
type: Class
comment: C is changed to T, in cDNA
equivalent class: Class
  intersection of: Restriction
    some values from: C
    on property: substitute from
  intersection of: Restriction
    some values from: T
    on property: substitute with
  intersection of: Nucleotide transition

G transition A
type: Class
comment: G is changed to A, in cDNA
equivalent class: Class
  intersection of: Restriction
    on property: substitute from
    some values from: G
  intersection of: Restriction
    on property: substitute with
    some values from: A
  intersection of: Nucleotide transition

T transition C
type: Class
comment: T is changed to C, in cDNA
equivalent class: Class
  intersection of: Restriction
    some values from: T
    on property: substitute from
  intersection of: Restriction
    some values from: C
    on property: substitute with
subclass of: Nucleotide transition

Polyplexes vector gene therapy
type: Class
comment: [Synthetic non-viral vectors can be formed by associating the nucleic acid sequences with cationic lipids to form lipoplexes, with cationic polymers to form polyplexes.]
subclass of: Therapeutic procedure
subclass of: Non viral vector gene therapy

Non viral vector gene therapy
type: Class
subclass of: Gene therapy
comment: [appear more suited to repeat dosing, but have been less effective. the transfer efficiency of non-viral vectors is currently low. [desirable properties of non-viral gene delivery systems, including biocompatibility (low toxicity and low immunogenicity), large adaptability with efficient nucleic delivery, ease of manufacturing (large quantities, high reproducibility, acceptable cost and simple storage conditions) and ease of clinical administration.]

Abdomen distended
type: Class
subclass of: Signs and symptoms digestive
comment: Concept:Abdomen_distended CUI: C0000731 Semantic Type: Finding(UMLS)

Signs and symptoms digestive
type: Class
subclass of: Sign and symptom
comment: Concept: Signs and Symptoms, Digestive CUI: C0037089 Semantic Type: Sign or Symptom Definition: Digestive system manifestations of diseases of the gastrointestinal system or of other organs. (MeSH)

C
type: Class
comment: dCMP, deoxycytidine monophosphate,in DNA
subclass of: Pyrimidines and derivatives
subclass of: Nucleotide

Nucleotide deletion
type: Class
comment: Concept: Nucleotide base deletion CUI: C0544883 Semantic Type: Cell or Molecular Dysfunction ??? Definition: None found. @nucleobase deletion will lead to amino acid change(maybe deletion),so maybe it is wise to leave deletion property from SOME,@
equivalent class: Class
  intersection of: Restriction
    some values from: Class
      union of: Del A
      union of: Del C
      union of: Del G
      union of: Del T
      union of: Del u
    on property: has deletion property
  intersection of: Nucleotide mutation

T
type: Class
subclass of: Pyrimidines and derivatives
subclass of: Nucleotide
comment: dTMP, Thymidine monophosphate,in DNA

Disease or syndrome
type: Class
subclass of: Pathologic function
comment: Semantic Type: Disease or Syndrome TUI: T047 Definition: A condition which alters or interferes with a normal process, state, or activity of an organism. It is usually characterized by the abnormal functioning of one or more of the host's systems, parts, or organs. Included here is a complex of symptoms descriptive of a disorder.

Pathologic function
type: Class
subclass of: Phenomenon or process
comment: Semantic Type: Pathologic Function TUI: T046 Definition: A disordered process, activity, or state of the organism as a whole, of a body system or systems, or of multiple organs or tissues. Included here are normal responses to a negative stimulus as well as patholologic conditions or states that are less specific than a disease. Pathologic functions frequently have systemic effects.

Prolonged
type: Class
subclass of: Temporal concept
comment: Concept: Prolonged CUI: C0439590 Semantic Type: Temporal Concept Definition: None found.

Patient CF with Ins3905 T
type: Class
comment: [3905insT]
subclass of: Restriction
  some values from: Swiss
  on property: has ethinic origin
subclass of: Restriction
  on property: has manifestation
  some values from: Pancreatic insufficiency
subclass of: Statement
subclass of: Related Ins3905 T
equivalent class: Class
  intersection of: Patient CF with nucleotide mutation
  intersection of: Restriction
    on property: has mutational property
    some values from: Ins3905 T

Swiss
type: Class
comment: Concept: Swiss CUI: C0241315 Semantic Type: Population Group Definition: None found.
subclass of: Ethnic group

Pancreatic insufficiency
type: Class
comment: Concept: Pancreatic Insufficiency CUI: C0030293 Semantic Type: Disease or Syndrome Definition: None found. [abbreviation: PI]
subclass of: Conditions
subclass of: Related Pancreatic insufficiency
equivalent class: Class
  intersection of: Restriction
    on property: has manifestation
    some values from: Insufficient digestive enzymes
  intersection of: Disease or syndrome

Patient CF with nucleotide mutation
type: Class
comment: [Patient_CF_with_nucleotide_base_mutation]
subclass of: Patient CF

has mutational property
type: ObjectProperty
comment: [it should be used for human being, gene and protein,nucelobase mutation and translation change. Noe it is not clear the relationship between domain of property and sub property.]

Ins3905 T
type: Class
comment: c.3905insT
equivalent class: Class
  intersection of: Restriction
    on property: locate in
    some values from: Ins3905
  intersection of: Restriction
    some values from: Ins T
    on property: has insertion property
  intersection of: Restriction
    on property: locate in
    some values from: Human CFTR gene exon 20
subclass of: Nucleotide insertion in human CFTR gene
subclass of: Mutation result
subclass of: Ins T
subclass of: Related Ins3905 T

Signs and symptoms respiratory
type: Class
comment: Concept: Signs and Symptoms, Respiratory CUI: C0037090 Semantic Type: Sign or Symptom Definition: Respiratory system manifestations of diseases of the respiratory tract or of other organs. (MeSH)
subclass of: Sign and symptom

Sign and symptom
type: Class
subclass of: Conceptual entity
comment: Concept: Signs and Symptoms CUI: C0037088 Semantic Type: Sign or Symptom Definition: Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. (MeSH) Semantic Type: Sign or Symptom TUI: T184 Definition: An observable manifestation of a disease or condition based on clinical judgment, or a manifestation of a disease or condition which is experienced by the patient and reported as a subjective observation.

Nucleic acid nucleoside or nucleotide
type: Class
comment: Semantic Type: Nucleic Acid, Nucleoside, or Nucleotide TUI: T114 Definition: A complex compound of high molecular weight occurring in living cells. These are basically of two types, ribonucleic (RNA) and deoxyribonucleic (DNA) acids. Nucleic acids are made of nucleotides (nitrogen-containing base, a 5-carbon sugar, and one or more phosphate group) linked together by a phosphodiester bond between the 5' and 3' carbon atoms. Nucleosides are compounds composed of a purine or pyrimidine base (usually adenine, cytosine, guanine, thymine, uracil) linked to either a ribose or a deoxyribose sugar.
subclass of: Chemical

Human CFTR protein
type: Class
comment: Concept: Cystic Fibrosis Transmembrane Conductance Regulator CUI: C0056889 Semantic Type: Amino Acid, Peptide, or Protein Biologically Active Substance Definition: A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8) (MeSH)
equivalent class: Class
  intersection of: Amino acid peptide or protein
  intersection of: Restriction
    some values from: Patient CF
    on property: occur

Adult male cystic fibrosis
type: Class
comment: [sterile or azospermic males]
equivalent class: Class
  intersection of: Adult CF
  intersection of: Restriction
    some values from: Male
    on property: occur in gender group
subclass of: Restriction
  some values from: Sterility
  on property: has manifestation

Adult CF
type: Class
equivalent class: Class
  intersection of: Patient CF with age group
  intersection of: Restriction
    some values from: Adult age group
    on property: occur in age group
subclass of: Restriction
  some values from: Bronchiectasis
  on property: has manifestation
subclass of: Restriction
  on property: has manifestation
  some values from: Deferred puberty
comment: [in adolescents or adults; delayed onset of puberty ; bronchiectasis]

Sterility
type: Class
comment: Concept: Sterility CUI: C0678108 Semantic Type: Pathologic Function
subclass of: Pathologic function
subclass of: Diagnostic result

Underweight
type: Class
subclass of: Sign and symptom
subclass of: Symptoms
comment: Concept: Underweight CUI: C0041667 Semantic Type: Finding

Cervix mucus
type: Class
comment: Concept: Cervix Mucus CUI: C0007872 Semantic Type: Body Substance Definition: A slightly alkaline secretion of the endocervical glands. The consistency and amount are dependent on the physiological hormone changes in the menstrual cycle. It contains the glycoprotein mucin, amino acids, sugar, enzymes, and electrolytes, with a water content up to 90%. The mucus is a useful protection against the ascent of bacteria and sperm into the uterus. (From Dictionary of Obstetrics and Gynecology, 1988) (MeSH) Synonyms: Cervix Mucus Cervical Mucus
subclass of: Mucous body substance

Mucous body substance
type: Class
comment: Concept: Mucous body substance CUI: C0026727 Semantic Type: Body Substance Definition: The viscous secretion of mucous membranes. It contains mucin, white blood cells, water, inorganic salts, and exfoliated cells. (MeSH)
subclass of: Body substance

Health care activity
type: Class
comment: Semantic Type: Health Care Activity TUI: T058 Definition: An activity of or relating to the practice of medicine or involving the care of patients.
subclass of: Activity

Activity
type: Class
comment: Semantic Type: Activity TUI: T052 Definition: An operation or series of operations that an organism or machine carries out or participates in.
subclass of: KBCF

Neonatal screening
type: Class
subclass of: Health care activity
comment: Concept: Neonatal Screening CUI: C0027617 Semantic Type: Health Care Activity Definition: The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic. (MeSH) [Synonyms:newborn screening]

Body substance
type: Class
comment: Semantic Type: Body Substance TUI: T031 Definition: Extracellular material, or mixtures of cells and extracellular material, produced, excreted, or accreted by the body. Included here are substances such as saliva, dental enamel, sweat, and gastric acid.
subclass of: Substance

Substance
type: Class
comment: Semantic Type: Substance TUI: T167 Definition: A material with definite or fairly definite chemical composition.
subclass of: Physical object

Physical therapy
type: Class
subclass of: Therapy
subclass of: Therapeutic procedure
comment: Concept: Physical therapy CUI: C0949766 Semantic Type: Therapeutic or Preventive Procedure Definition: therapies to prevent, correct, or alleviate dysfunction of anatomic or physiologic origin, employing physical phenomena such as temperature, light, water, and sound, as well as exercise and massage. (CRISP Thesaurus) Treatment of disorder or injury by physical means, such as light, heat, cold, water, electricity, or by mechanical apparatus or kinesitherapy. (Psychological Index Terms) Therapeutic modalities frequently used by physical therapists or physiotherapists to promote, maintain, or restore the physical and physiological well-being of an individual. (MeSH) [Synonyms: Physiotherapy]

Ile
type: Class
subclass of: Amino acids
comment: [Abbreviation: Ile, I; full name: Isoleucine]
comment: Concept: Isoleucine CUI: C0022192 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: An essential branched-chain aliphatic amino acid found in many proteins. It is an isomer of LEUCINE. It is important in hemoglobin synthesis and regulation of blood sugar and energy levels. (MeSH) essential branched-chain aliphatic amino acid found in many proteins; an isomer of leucine; important in hemoglobin synthesis and regulation of blood sugar and energy levels. (CRISP Thesaurus) One of nine essential amino acids in humans (present in dietary proteins), Isoleucine has diverse physiological functions, such as assisting wound healing, detoxification of nitrogenous wastes, stimulating immune function, and promoting secretion of several hormones. Necessary for hemoglobin formation and regulating blood sugar and energy levels, isoleucine is concentrated in muscle tissues in humans. Isoleucine is found especially in meats, fish, cheese, eggs, and most seeds and nuts. (NCI04) (NCI Thesaurus)

Conceptual entity
type: Class
comment: Semantic Type: Conceptual Entity TUI: T077 Definition: A broad type for grouping abstract entities or concepts.
subclass of: KBCF

Thr
type: Class
subclass of: Amino acids
comment: [Abbreviation: Thr, T; full name: Threonine]
comment: Concept: Threonine CUI: C0040005 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, and other proteins. (MeSH) alpha-amino beta-hydroxy butyric acid, a natural amino acid essential for optimal growth in infants and for nitrogen equilibrium in adults. (CRISP Thesaurus) An essential amino acid in humans (provided by food), Threonine is an important residue of many proteins, such as tooth enamel, collagen, and elastin. An important amino acid for the nervous system, threonine also plays an important role in porphyrin and fat metabolism and prevents fat buildup in the liver. Useful with intestinal disorders and indigestion, threonine has also been used to alleviate anxiety and mild depression. (NCI04) (NCI Thesaurus)

Kalydeco
type: Class
subclass of: Gene specific medication
comment: Concept: [C3264627] Kalydeco Semantic Type Pharmacologic Substance [T121] ivacaftor

Adolescent age group
type: Class
disjoint with: Elderly age group
subclass of: Age group
disjoint with: Child age group
disjoint with: Middle aged age group
disjoint with: Aged 80 and over age group
disjoint with: Infant age group
disjoint with: Child preschool age group
comment: Concept: Adolescent CUI: C0205653 Semantic Type: Age Group Definition: A person 13 to 18 years of age. (MeSH)
disjoint with: Adult age group
disjoint with: Infant newborn age group

Adult age group
type: Class
disjoint with: Child age group
subclass of: Age group
disjoint with: Infant newborn age group
disjoint with: Infant age group
disjoint with: Elderly age group
disjoint with: Child preschool age group
comment: Concept: Adult CUI: C0001675 Semantic Type: Age Group Definition: A person having attained full growth or maturity. Adults are of 19 through 44 years of age. (MeSH) A human who has reached reproductive age. (NCI Thesaurus)
disjoint with: Middle aged age group
disjoint with: Aged 80 and over age group
disjoint with: Adolescent age group

Aged 80 and over age group
type: Class
comment: Concept: Aged, 80 and over CUI: C0001795 Semantic Type: Age Group Definition: A person 80 years of age and older. (MeSH)
disjoint with: Adult age group
disjoint with: Infant age group
disjoint with: Elderly age group
disjoint with: Child age group
subclass of: Age group
disjoint with: Middle aged age group
disjoint with: Infant newborn age group
disjoint with: Adolescent age group
disjoint with: Child preschool age group

Child age group
type: Class
disjoint with: Infant newborn age group
comment: Concept: Child CUI: C0008059 Semantic Type: Age Group Intellectual Product Definition: A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. (MeSH)
disjoint with: Adult age group
disjoint with: Adolescent age group
disjoint with: Child preschool age group
disjoint with: Infant age group
subclass of: Age group
disjoint with: Aged 80 and over age group
disjoint with: Middle aged age group
disjoint with: Elderly age group

Elderly age group
type: Class
disjoint with: Middle aged age group
disjoint with: Child age group
disjoint with: Infant newborn age group
disjoint with: Aged 80 and over age group
disjoint with: Adolescent age group
comment: Concept: Elderly CUI: C0001792 Semantic Type: Age Group Definition: A person 65 through 79 years of age. For a person older than 79 years, AGED, 80 AND OVER is available. (MeSH)
subclass of: Age group
disjoint with: Child preschool age group
disjoint with: Infant age group
disjoint with: Adult age group

Middle aged age group
type: Class
disjoint with: Infant age group
disjoint with: Adolescent age group
disjoint with: Aged 80 and over age group
disjoint with: Adult age group
disjoint with: Elderly age group
subclass of: Age group
disjoint with: Child preschool age group
disjoint with: Infant newborn age group
disjoint with: Child age group
comment: Concept: Middle Aged CUI: C0205847 Semantic Type: Age Group Definition: None found. [self definition, complete to the age group gap, 45-64 years old]

Patient CF with Gly551Asp
type: Class
comment: [G551D]
subclass of: Restriction
  some values from: Pancreatic insufficiency
  on property: has manifestation
subclass of: Restriction
  on property: has ethinic origin
  some values from: English population
subclass of: Statement
subclass of: Related Gly551Asp
subclass of: Child age group
equivalent class: Class
  intersection of: Patient CF with amino acid change
  intersection of: Restriction
    on property: has mutational property
    some values from: Gly551Asp

g
type: Class
subclass of: Nucleotide
subclass of: Purines and derivatives
comment: GMP, guanosine monophosphate,in RNA

Purines and derivatives
type: Class
subclass of: Nucleic acid nucleoside or nucleotide
comment: Concept: Purines CUI: C0034140 Semantic Type: Organic Chemical Definition: A series of heterocyclic compounds that are variously substituted in nature and are known also as purine bases. They include ADENINE and GUANINE, constituents of nucleic acids, as well as many alkaloids such as CAFFEINE and THEOPHYLLINE. Uric acid is the metabolic end product of purine metabolism. (MeSH) bicyclic ring structure consisting of fused imidazole and pyrimidine rings, with nitrogen atoms at the 1,3,7, and 9 positions; the basic structure of adenine, guanine, and other biologically important bases. (CRISP Thesaurus) [Synonyms: purine bases]

Desire for food
type: Class
subclass of: Organism function
comment: Concept: Desire for food CUI: C0003618 Semantic Type: Organism Function(UMLS) Definition: Natural recurring desire for food. (MeSH) [appetite]

Lys
type: Class
subclass of: Amino acids
comment: [Abbreviation: Lys, K; full name: Lysine]
comment: Concept: Lysine CUI: C0024337 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: An essential amino acid. It is often added to animal feed. (MeSH) essential aminoacid necessary for optimal growth in infants and for maintenance of nitrogen equilibrium in adult humans. (CRISP Thesaurus) One of nine essential amino acids in humans required for growth and tissue repair, Lysine is supplied by many foods, especially red meats, fish, and dairy products. Lysine seems to be active against herpes simplex viruses and present in many forms of diet supplements. The mechanism underlying this effect is based on the viral need for amino acid arginine; lysine competes with arginine for absorption and entry into cells. Lysine inhibits HSV growth by knocking out arginine. (NCI04) (NCI Thesaurus)

Phe
type: Class
comment: [Abbreviation: Phe, F; full name: Phenylalanine]
comment: Concept: Phenylalanine CUI: C0031453 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE. (MeSH) essential aromatic amino acid that is a precursor of melanin, dopamine, norepinephrine and thyroxine. (CRISP Thesaurus) An essential aromatic amino acid in humans (provided by food), Phenylalanine plays a key role in the biosynthesis of other amino acids and is important in the structure and function of many proteins and enzymes. Phenylalanine is converted to tyrosine, used in the biosynthesis of dopamine and norepinephrine neurotransmitters. The L-form of Phenylalanine is incorporated into proteins, while the D-form acts as a painkiller. Absorption of ultraviolet radiation by Phenylalanine is used to quantify protein amounts. (NCI04) (NCI Thesaurus)
subclass of: Amino acids

Congenital abnormality
type: Class
subclass of: Anatomical abnormality
comment: Semantic Type: Congenital Abnormality TUI: T019 Definition: An abnormal structure, or one that is abnormal in size or location, present at birth or evolving over time as a result of a defect in embryogenesis.

Anatomical abnormality
type: Class
subclass of: Anatomical structure
comment: Semantic Type: Anatomical Abnormality TUI: T190 Definition: An abnormal structure, or one that is abnormal in size or location.

Uracil
type: Class
subclass of: Nucleobase
subclass of: Pyrimidines and derivatives
subclass of: Restriction
  on property: locate in
  some values from: RNA
comment: Concept: Uracil CUI: C0041917 Semantic Type: Nucleic Acid, Nucleoside, or Nucleotide Pharmacologic Substance Biologically Active Substance Definition: 2,4-diketopyrimidine; one of the 5 major bases (with adenine, guanine, cytosine, and thymine) which are a component of nucleic acids. (CRISP Thesaurus) [abbreviation: U]

Pyrimidines and derivatives
type: Class
subclass of: Nucleic acid nucleoside or nucleotide
comment: Concept: Pyrimidines CUI: C0034289 Semantic Type: Organic Chemical Definition: A family of 6-membered heterocyclic compounds occurring in nature in a wide variety of forms. They include several nucleic acid constituents (CYTOSINE; THYMINE; and URACIL) and form the basic structure of the barbiturates. (MeSH) 6-membered aromatic ring structure with 2 meta nitrogen heteroatoms. (CRISP Thesaurus) One of two classes of heterocyclic nitrogenous bases found in the nucleic acids DNA and RNA: in DNA the pyrimidines are cytosine and thymine, in RNA uracil replaces thymine. (NCI Thesaurus) [Synonyms: pyrimidine bases]

Trp
type: Class
comment: [Abbreviation: Trp, W; full name: Tryptophan]
comment: Concept: Tryptophan CUI: C0041249 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: An essential amino acid that is necessary for normal growth in infants and for NITROGEN balance in adults. It is a precursor of INDOLE ALKALOIDS in plants. It is a precursor of SEROTONIN (hence its use as an antidepressant and sleep aid). It can be a precursor to NIACIN, albeit inefficiently, in mammals. (MeSH) essential amino acid necessary for normal growth in infants, nitrogen balance in adults; seretonin precursor. (CRISP Thesaurus) The least plentiful of all 22 amino acids and an essential amino acid in humans (provided by food), Tryptophan is found in most proteins and a precursor of serotonin. Tryptophan is converted to 5-hydroxy-tryptophan (5-HTP), converted in turn to serotonin, a neurotransmitter essential in regulating appetite, sleep, mood, and pain. Tryptophan is a natural sedative and present in dairy products, meats, brown rice, fish, and soybeans. (NCI04) (NCI Thesaurus)
subclass of: Amino acids

Ala
type: Class
comment: Concept: Alanine CUI: C0001898 Semantic Type: Amino Acid, Peptide, or Protein Biologically Active Substance Definition: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM. (MeSH) non-essential amino acid that occurs in high levels in its free state in plasma; it is involved in sugar and acid metabolism, increases immunity, and provides energy for muscle tissue, brain, and the central nervous system. (CRISP Thesaurus) A small non-essential amino acid in humans, Alanine is one of the most widely used for protein construction and is involved in the metabolism of tryptophan and vitamin pyridoxine. Alanine is an important source of energy for muscles and central nervous system, strengthens the immune system, helps in the metabolism of sugars and organic acids, and displays a cholesterol-reducing effect in animals. (NCI04) (NCI Thesaurus)
comment: [Abbreviation: Ala , A; full name: Alanine]
subclass of: Amino acids

Human CFTR gene
type: Class
equivalent class: Class
  intersection of: Gene or genome
  intersection of: Restriction
    on property: occur
    some values from: Human being
  intersection of: Restriction
    on property: locate in
    some values from: Long arm of chromosomes human pair 7
comment: Concept: CFTR gene CUI: C1413365 Semantic Type: Gene or Genome Definition: None found.

Gastrointestinal diseases
type: Class
subclass of: Digestive system diseases
comment: Concept: Gastrointestinal Diseases CUI: C0017178 Semantic Type: Disease or Syndrome Definition: Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. (MeSH)

Digestive system diseases
type: Class
comment: Concept: Digestive System Disorders CUI: C0012242 Semantic Type: Disease or Syndrome Definition: Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS). (MeSH)
subclass of: Diseases

Ileus
type: Class
subclass of: Intestinal diseases
comment: Concept: Ileus CUI: C1258215 Semantic Type: Disease or Syndrome Definition: A condition caused by the lack of intestinal PERISTALSIS or INTESTINAL MOTILITY without any mechanical obstruction. This interference of the flow of INTESTINAL CONTENTS often leads to INTESTINAL OBSTRUCTION. Ileus may be classified into postoperative, inflammatory, metabolic, neurogenic, and drug-induced. (MeSH)

Sweat
type: Class
comment: Concept: Sweat CUI: C0038984 Semantic Type: Body Substance Definition: The fluid excreted by the SWEAT GLANDS. It consists of water containing sodium chloride, phosphate, urea, ammonia, and other waste products. (MeSH)
subclass of: Body substance

Salty
type: Class
subclass of: Qualitative concept
comment: Concept: salty CUI: C1537053 Semantic Type: Qualitative Concept Definition: None found.

Pamidronate
type: Class
comment: Concept: pamidronate CUI: C0043603 Semantic Type: Organic Chemical Pharmacologic Substance Definition: None found. [Intravenous pamidronate increases BMD at axial sites in people with CF, although it can cause severe bone pain in participants not receiving corticosteroids.]
subclass of: Diphosphonates

Diphosphonates
type: Class
subclass of: Pharmacologic substance
comment: Concept: Diphosphonates CUI: C0012544 Semantic Type: Organophosphorus Compound Pharmacologic Substance Definition: Organic compounds which contain P-C-P bonds, where P stands for phosphonates or phosphonic acids. These compounds affect calcium metabolism. They inhibit ectopic calcification and slow down bone resorption and bone turnover. Technetium complexes of diphosphonates have been used successfully as bone scanning agents. (MeSH) organic compounds which contain P-C-P bonds, where P stands for phosphonates or phosphonic acids; these compounds affect calcium metabolism; they inhibit ectopic calcification and slow down bone resorption and bone turnover; technetium complexes of diphosphonates have been used successfully as bone scanning agents. (CRISP Thesaurus) [Synonyms: Bisphosphonates]

Spatial concept
type: Class
comment: Semantic Type: Spatial Concept TUI: T082 Definition: A location, region, or space, generally having definite boundaries.
subclass of: Idea or concept

Idea or concept
type: Class
subclass of: Conceptual entity
comment: Semantic Type: Idea or Concept TUI: T078 Definition: An abstract concept, such as a social, religious or philosophical concept.

Scanty
type: Class
subclass of: Quantitative concept
comment: Concept: Scanty CUI: C0443295 Semantic Type: Quantitative Concept Definition: None found.

Pharmacologic substance
type: Class
comment: Semantic Type: Pharmacologic Substance TUI: T121 Definition: A substance used in the treatment or prevention of pathologic disorders. This includes substances that occur naturally in the body and are administered therapeutically.
subclass of: Substance

Chemical
type: Class
comment: Semantic Type: Chemical TUI: T103 Definition: Compounds or substances of definite molecular composition. Chemicals are viewed from two distinct perspectives in the network, functionally and structurally. Almost every chemical concept is assigned at least two types, generally one from the structure hierarchy and at least one from the function hierarchy.
subclass of: Substance

Patient CF with Trp1282X
type: Class
comment: [W1282X]
equivalent class: Class
  intersection of: Patient CF with amino acid change
  intersection of: Restriction
    some values from: Trp1282X
    on property: has mutational property
subclass of: Restriction
  some values from: Pancreatic insufficiency
  on property: has manifestation
subclass of: Restriction
  on property: has ethinic origin
  some values from: Jews
subclass of: Statement
subclass of: Related Trp1282X

Trp1282X
type: Class
comment: [alternative name: Trp_1282_X], p.Trp1282X, W1282X
equivalent class: Class
  intersection of: Restriction
    on property: locate in
    some values from: Trp1282
  intersection of: Restriction
    on property: locate in
    some values from: Human CFTR gene exon 20
  intersection of: Restriction
    on property: substitute from
    some values from: Trp
  intersection of: Restriction
    on property: substitute with
    some values from: Nonsense codon
subclass of: Mutation result
subclass of: Amino acid substitution in human CFTR protein
subclass of: Related Trp1282X

Jews
type: Class
comment: Jews An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.[MeSH]
subclass of: Ethnic group

Guanine
type: Class
comment: Concept: Guanine CUI: C0018321 Semantic Type: Nucleic Acid, Nucleoside, or Nucleotide Biologically Active Substance Definition: 2-amino-6-hydroxypurine; one of the 5 major bases (with adenine, thymine, cytosine, and uracil) found in nucleic acids. (CRISP Thesaurus) A purine base that is a constituent of nucleotides occuring in nucleic acids.(NCI) (NCI Thesaurus) [abbreviation: G]
subclass of: Purines and derivatives
subclass of: Nucleobase

Gene or genome
type: Class
subclass of: Anatomical structure
comment: Semantic Type: Gene or Genome TUI: T028 Definition: A specific sequence, or in the case of the genome the complete sequence, of nucleotides along a molecule of DNA or RNA (in the case of some viruses) which represent the functional units of heredity.

Infertility
type: Class
subclass of: Diseases
subclass of: Diagnostic result
comment: Concept: Infertility CUI: C0021359 Semantic Type: Disease or Syndrome Definition: Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility. (MeSH) [sterile, sterility, infertile]

Diseases
type: Class
subclass of: Disease or syndrome
comment: Concept: Disease CUI: C0012634 Semantic Type: Disease or Syndrome Definition: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. (MeSH)

Diarrhea
type: Class
subclass of: Signs and symptoms digestive
comment: Concept: Diarrhea CUI: C0011991 Semantic Type: Sign or Symptom Definition: An increased liquidity or decreased consistency of FECES, such as running stool. Fecal consistency is related to the ratio of water-holding capacity of insoluble solids to total water, rather than the amount of water present. Diarrhea is not hyperdefecation or increased fecal weight. (MeSH)

Recurrence
type: Class
subclass of: Idea or concept
comment: Concept: Recurrence CUI: C0034897 Semantic Type: Phenomenon or Process Definition: The return of a sign, symptom, or disease after a remission. (MeSH)

Temporal concept
type: Class
comment: Semantic Type: Temporal Concept TUI: T079 Definition: A concept which pertains to time or duration.
subclass of: Idea or concept

Del394 TT
type: Class
comment: c.394_395delTT
subclass of: Nucleotide deletion in human CFTR gene
subclass of: Mutation result
subclass of: Del T
subclass of: Related Del394 TT
equivalent class: Class
  intersection of: Restriction
    some values from: Del394
    on property: locate in
  intersection of: Restriction
    on property: has deletion property
    some values from: Del T
  intersection of: Restriction
    some values from: Human CFTR gene exon 3
    on property: locate in
  intersection of: Restriction
    on property: locate in
    some values from: Del395

Chromosomes human pair 7
type: Class
comment: Concept: Chromosomes, Human, Pair 7 CUI: C0008670 Semantic Type: Cell Component Definition: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. (MeSH) One of the seven pairs in the third group (or group C) of human chromosomes according to the current classification for humans. (NCI Thesaurus)
subclass of: Chromosomes human

Chromosomes human
type: Class
comment: Concept: Chromosomes_human CUI: C0008643 Semantic Type: Cell Component Definition: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual. (MeSH)
subclass of: Restriction
  some values from: Human being
  on property: occur
subclass of: Restriction
  all values from: Human being
  on property: occur
subclass of: Cell component

Age group
type: Class
subclass of: Group
comment: Semantic Type: Age Group TUI: T100 Definition: An individual or individuals classified according to their age. @It is only a conceptual class, not include real individual, real individual is in human being class@

Group
type: Class
subclass of: Conceptual entity
comment: Semantic Type: Group TUI: T096 Definition: A conceptual entity referring to the classification of individuals according to certain shared characteristics.

Cytosine
type: Class
subclass of: Nucleobase
subclass of: Pyrimidines and derivatives
comment: Concept: Cytosine CUI: C0010843 Semantic Type: Organic Chemical Biologically Active Substance Definition: A pyrimidine base that is a fundamental unit of nucleic acids. (MeSH) 2-keto-4-aminopyrimidine, one of the 5 major bases (with adenine, guanine, uracil, and thymine) which are a component of nucleic acids. (CRISP Thesaurus) [abbreviation: C]

G621 plus 1 T
type: Class
equivalent class: Class
  intersection of: Restriction
    on property: locate in
    some values from: G621 plus 1
  intersection of: Restriction
    some values from: G transversion T
    on property: has transversion property
  intersection of: Restriction
    on property: locate in
    some values from: Human CFTR gene intron 4
comment: c.621+1G>T
subclass of: Nucleotide transversion in human CFTR gene
subclass of: Mutation result
subclass of: G transversion T
subclass of: Related G621 plus 1 T

G transversion T
type: Class
equivalent class: Class
  intersection of: Restriction
    some values from: G
    on property: substitute from
  intersection of: Restriction
    some values from: T
    on property: substitute with
  intersection of: General transversion
comment: G is changed to T, in cDNA

Long arm of chromosome human
type: Class
comment: [q]
subclass of: Arm of chromosome

DNA
type: Class
subclass of: Nucleic acid nucleoside or nucleotide
comment: Concept: DNA CUI: C0012854 Semantic Type: Nucleic Acid, Nucleoside, or Nucleotide Biologically Active Substance Definition: deoxyribonucleotide polymer that is the primary genetic material of all cells; eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions; DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). (CRISP Thesaurus) A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). (MeSH) Desoxyribonucleic acid. (Alternative Billing Concepts)

Nonsense codon
type: Class
subclass of: Nucleic acid nucleoside or nucleotide
comment: [Synonym: X] [to describea nonsense mutation, the new nucleotide changes a codon that specified an amino acid to one of the stop codon; translation of the mRNA will stop prematurely] [alternative name: X; Translation termination codon]

Increase
type: Class
comment: Concept: Increase CUI: C0442805 Semantic Type: Functional Concept Definition: A process of becoming larger or more numerous or more important. (NCI Thesaurus)
subclass of: Functional concept

Functional concept
type: Class
comment: Semantic Type: Functional Concept TUI: T169 Definition: A concept which is of interest because it pertains to the carrying out of a process or activity.
subclass of: Idea or concept

Nucleotide location in human CFTR gene
type: Class
subclass of: Spatial concept
comment: CFTR gene cDNA nucleotide sequence location

Infant newborn age group
type: Class
disjoint with: Aged 80 and over age group
disjoint with: Infant age group
disjoint with: Child age group
disjoint with: Middle aged age group
subclass of: Age group
disjoint with: Adult age group
disjoint with: Adolescent age group
comment: Concept: Infant, Newborn CUI: C0021289 Semantic Type: Age Group Definition: An infant during the first month after birth. (MeSH)
disjoint with: Child preschool age group
disjoint with: Elderly age group

Infant age group
type: Class
disjoint with: Infant newborn age group
disjoint with: Aged 80 and over age group
disjoint with: Elderly age group
disjoint with: Middle aged age group
disjoint with: Child age group
disjoint with: Adolescent age group
disjoint with: Adult age group
subclass of: Age group
comment: CUI: C0021270 Definition: A child between 1 and 23 months of age. (MeSH)
disjoint with: Child preschool age group

Child preschool age group
type: Class
disjoint with: Infant newborn age group
disjoint with: Adult age group
disjoint with: Child age group
disjoint with: Adolescent age group
subclass of: Age group
disjoint with: Elderly age group
comment: Concept: Child, Preschool CUI: C0008100 Semantic Type: Age Group Definition: A child between the ages of 2 and 5. (MeSH)
disjoint with: Middle aged age group
disjoint with: Aged 80 and over age group
disjoint with: Infant age group

Organism function
type: Class
subclass of: Physiologic function
comment: Semantic Type: Organism Function TUI: T040 Definition: A physiologic function of the organism as a whole, of multiple organ systems, or of multiple organs or tissues.

Psychological therapy
type: Class
subclass of: Therapy
subclass of: Therapeutic procedure
comment: Concept: Psychological therapies CUI: C0841584 Semantic Type: Therapeutic or Preventive Procedure Definition: None found.

Spaniards
type: Class
comment: Concept: Spaniards CUI: C0337817 Semantic Type: Population Group Definition: None found.
subclass of: Ethnic group

Ethnic group
type: Class
subclass of: Population group
comment: Concept: Ethnic group CUI: C0015031 Semantic Type: Population Group Definition: None found.

Patient CF with azithromycin orally
type: Class
equivalent class: Class
  intersection of: Patient CF with therapy
  intersection of: Restriction
    on property: treat by
    some values from: Azithromycin orally
subclass of: Restriction
  some values from: Increased value of FEV1
  on property: has manifestation
subclass of: Restriction
  some values from: Class
    union of: Nausea
    union of: Diarrhea
    union of: Wheezing
  on property: has side effect
comment: [There is clear evidence from these studies of a small but significant improvement in respiratory function following treatment with azithromycin. ]

Nausea
type: Class
comment: Concept: Nausea CUI: C0027497 Semantic Type: Sign or Symptom Definition: Distaste for food / fluids and an urge to vomit. (Home Health Care Classification) An unpleasant sensation in the stomach usually accompanied by the urge to vomit. Common causes are early pregnancy, sea and motion sickness, emotional stress, intense pain, food poisoning, and various enteroviruses. (MeSH) unpleasant sensation in the stomach usually accompanied by the urge to vomit. (CRISP Thesaurus) A subjective unpleasant, wavelike sensation in the back of the throat, epigastrium, or abdomen that may lead to the urge or need to vomit (Classification of Nursing Diagnoses) The sensation that one is about to vomit. (NCI Thesaurus)
subclass of: Signs and symptoms digestive
subclass of: Symptoms

Wheezing
type: Class
subclass of: Signs and symptoms respiratory
comment: Concept: Wheezing CUI: C0043144 Semantic Type: Sign or Symptom Definition: None found.

Poor
type: Class
comment: Concept: Poor - grade value CUI: C0542537 Semantic Type: Qualitative Concept Definition: None found.
subclass of: Qualitative concept

Incomplete
type: Class
comment: Concept: Incomplete CUI: C0205257 Semantic Type: Quantitative Concept Definition: None found.
subclass of: Quantitative concept

Arm of chromosome
type: Class
comment: Concept: Arm of chromosome CUI: C0449721 Semantic Type: Nucleotide Sequence Definition: Under the microscope chromosomes appear as thin, thread-like structures. They all have a short arm and long arm separated by a primary constriction called the centromere. The short arm is designated as p and the long arm as q.(NCI) (NCI Thesaurus)
subclass of: Spatial concept

Lower respiratory tract infection
type: Class
comment: Concept: Lower respiratory tract infection CUI: C0149725 Semantic Type: Disease or Syndrome Synonyms: Chest infection (disorder) Definition: None found.
subclass of: Disease or syndrome

Nasal polyps
type: Class
comment: Concept: Nasal Polyps CUI: C0027430 Semantic Type: Anatomical Abnormality (UMLS) Definition: Focal accumulations of EDEMA fluid in the NASAL MUCOSA accompanied by HYPERPLASIA of the associated submucosal connective tissue. Polyps may be NEOPLASMS, foci of INFLAMMATION, degenerative lesions, or malformations. (MeSH)
subclass of: Anatomical abnormality

Phenomenon or process
type: Class
subclass of: KBCF
comment: Semantic Type: Phenomenon or Process TUI: T067 Definition: A process or state which occurs naturally or as a result of an activity.

Adeno associated virus vector gene therapy
type: Class
comment: [AAV vectors, they do not appear to induce inflammatory changes over a wide range of doses. The level of CFTR mssanger RNA expression is difficult to ascertain with AAV vectors. AAV vectors appear to be safe and have superior duration profiles. [AAV vectors establish latency in cells without inducing inflammation.]
subclass of: Therapeutic procedure
subclass of: Viral vector gene therapy

Viral vector gene therapy
type: Class
comment: [unsuitaed to repeat dosing, as immune response reduces the effectiveness of each subsequent dose [fail to overcome host immune response to allow multiple readministration.]
subclass of: Gene therapy

Adenovirus vector gene therapy
type: Class
subclass of: Therapeutic procedure
subclass of: Viral vector gene therapy
comment: [Ad vectors cause transient infection associated with acute inflammation.]

Patient CF with Del394 TT
type: Class
subclass of: Restriction
  on property: has ethinic origin
  some values from: Finns
subclass of: Statement
subclass of: Related Del394 TT
equivalent class: Class
  intersection of: Patient CF with nucleotide mutation
  intersection of: Restriction
    on property: has mutational property
    some values from: Del394 TT
comment: [394delTT]

Finns
type: Class
comment: Concept: Finns CUI: C0337803 Semantic Type: Population Group Definition: None found.
subclass of: Ethnic group

Thymine
type: Class
subclass of: Nucleobase
subclass of: Pyrimidines and derivatives
comment: Concept: Thymine CUI: C0040087 Semantic Type: Nucleic Acid, Nucleoside, or Nucleotide Biologically Active Substance Definition: 2,4-diketo-5-methylpyrimidine; one of the 5 major bases (with adenine, guanine, cytosine, and uracil) found in nucleic acids. (CRISP Thesaurus) [abbreviation: T]

Azithromycin
type: Class
comment: Concept: Azithromycin CUI: C0052796 Semantic Type: Organic Chemical Antibiotic Definition: A semi-synthetic macrolide antibiotic structurally related to ERYTHROMYCIN. It has been used in the treatment of Mycobacterium avium intracellulare infections, toxoplasmosis, and cryptosporidiosis. (MeSH) semi-synthetic macrolide antibiotic; related to erythromycin. (CRISP Thesaurus)
subclass of: Antibiotic

Effect
type: Class
subclass of: Qualitative concept
comment: Concept: Effect CUI: C1280500 Semantic Type: Qualitative Concept Definition: A phenomenon that follows and is caused by some previous phenomenon. (NCI Thesaurus)

Short term
type: Class
comment: Concept: Short-term CUI: C0443303 Semantic Type: Temporal Concept Definition: None found.
subclass of: Temporal concept

Abdomen
type: Class
subclass of: Body location or region
comment: Concept: Abdomen CUI: C0000726 Semantic Type: Body Location or Region Definition: That portion of the body that lies between the THORAX and the PELVIS. (MeSH) Subdivision of trunk, which is demarcated from the thorax internally by the inferior surface of the sternocostal part of the diaphragm and externally by the costal margin, from the pelvis by the plane of the superior pelvic aperture and from the lower limbs by the inguinal folds; together with the thorax, pelvis, and perineum, it constitutes the trunk. Examples: There is only one abdomen. (Digital Anatomist) portion of the body that lies between the thorax and the pelvis. (CRISP Thesaurus) Of, or related to, the abdomen. (NCI Thesaurus)

Dilated
type: Class
comment: Concept: Dilated CUI: C0700124 Semantic Type: Functional Concept Definition: None found. [Synonyms: Distended ; Ectatic]
subclass of: Functional concept

Ser
type: Class
subclass of: Amino acids
comment: [Abbreviation: Ser, S; full name: Serine]
comment: Concept: Serine CUI: C0036720 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES, PYRIMIDINES, and other amino acids. (MeSH) naturally occurring nonessential aminoacid, chemical name 2-amino-3-hydroxypropionic acid; it may be synthesized from glycine or threonine and is involved in the biosynthesis of purines, pyrimidines, and other amino acids. (CRISP Thesaurus) A non-essential amino acid in humans (synthesized by the body), Serine is present and functionally important in many proteins. With an alcohol group, serine is needed for the metabolism of fats, fatty acids, and cell membranes; muscle growth; and a healthy immune system. It also plays a major role in pyrimidine, purine, creatine, and porphyrin biosynthetic pathways. Serine is also found at the active site of the serine protease enzyme class that includes trypsin and chymotrypsin. (NCI04) (NCI Thesaurus)

Axial
type: Class
comment: Concept: Axial CUI: C0205131 Semantic Type: Spatial Concept Definition: None found.
subclass of: Spatial concept

Laboratory finding or test result
type: Class
comment: Concept: Laboratory Finding or Test Result CUI: C1254360 Semantic Type: Laboratory or Test Result Definition: None found.
subclass of: Conceptual entity

Value of FEV1
type: Class
comment: FEV: Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity.[from MeSH]
subclass of: Laboratory finding or test result

Physical object
type: Class
subclass of: KBCF
comment: Semantic Type: Physical Object TUI: T072 Definition: An object perceptible to the sense of vision or touch.

Gene specific medication
type: Class
subclass of: Pharmacologic substance
comment: This is a abstract class to collect all the medications that target on specific gene. The classification according to chemical structure should also be kept. This is an extra class to collect all the medications that have aspecific genes as targets.

Severe
type: Class
subclass of: Qualitative concept
comment: Concept: Severe CUI: C0205082 Semantic Type: Qualitative Concept Definition: denoting fast growth. (NCI Thesaurus)

Bone pain
type: Class
subclass of: Sign and symptom
comment: Concept: Bone pain CUI: C0151825 Semantic Type: Sign or Symptom Definition: None found.

mRNA
type: Class
comment: Concept: RNA, Messenger CUI: C0035696 Semantic Type: Nucleic Acid, Nucleoside, or Nucleotide Biologically Active Substance Definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. (MeSH) RNA sequences that serve as templates for protein synthesis; eukaryotic messenger RNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. (CRISP Thesaurus) Messenger RNA. A class of RNA molecules that contain protein-coding information in their nucleotide sequence and can be translated into the amino acid sequence of a protein. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. (NCI Thesaurus) [alternative name: mRNA; RNA, messenger]
subclass of: RNA

Intestinal diseases
type: Class
subclass of: Gastrointestinal diseases
comment: Concept: Intestinal Diseases CUI: C0021831 Semantic Type: Disease or Syndrome Definition: Pathological processes in any segment of the INTESTINE from DUODENUM to RECTUM. (MeSH)

Patient CF with AA2183 minus G
type: Class
subclass of: Restriction
  some values from: Italians
  on property: has ethinic origin
subclass of: Statement
subclass of: Related AA2183 minus G
equivalent class: Class
  intersection of: Restriction
    on property: has mutational property
    some values from: AA2183 minus G
  intersection of: Patient CF with nucleotide mutation
comment: [2183AA->G]

Italians
type: Class
comment: Concept: Italians CUI: C0337810 Semantic Type: Population Group Definition: None found.
subclass of: Ethnic group

AA2183 minus G
type: Class
subclass of: Nucleotide deletion in human CFTR gene
subclass of: Nucleotide transition in human CFTR gene
subclass of: A transition G
subclass of: Mutation result
subclass of: Del A
subclass of: Related AA2183 minus G
comment: c.[2183A>G; 2184delA]
equivalent class: Class
  intersection of: Class
    intersection of: Restriction
      on property: has deletion property
      some values from: Del A
    intersection of: Restriction
      some values from: AA2184
      on property: locate in
  intersection of: Restriction
    on property: locate in
    some values from: Human CFTR gene exon 13
  intersection of: Class
    intersection of: Restriction
      some values from: A transition G
      on property: has transition property
    intersection of: Restriction
      some values from: AA2183
      on property: locate in

Clinical attribute
type: Class
comment: Semantic Type: Clinical Attribute TUI: T201 Definition: An observable or measurable property or state of an organism of clinical interest.
subclass of: Conceptual entity

Intron
type: Class
comment: Concept: Introns CUI: C0021920 Semantic Type: Nucleic Acid, Nucleoside, or Nucleotide Biologically Active Substance Definition: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes. (MeSH) noncoding intervening sequence in a gene; separates the coding sequences. (CRISP Thesaurus) Non-coding, intervening sequences of DNA that are transcribed, but are removed from within the primary gene transcript and rapidly degraded during maturation of messenger RNA. Most genes in the nuclei of eukaryotes contain introns, as do mitochondrial and chloroplast genes. (NCI Thesaurus)
subclass of: DNA

Patient CF with recombinant human deoxyribonuclease
type: Class
subclass of: Restriction
  some values from: Class
    union of: Rash
    union of: Voice alteration
  on property: has side effect
subclass of: Restriction
  on property: has manifestation
  some values from: Increased value of FEV1
subclass of: Restriction
  some values from: Sputum
  on property: thin out
equivalent class: Class
  intersection of: Patient CF with therapy
  intersection of: Restriction
    some values from: Recombinant human deoxyribonuclease
    on property: treat by
comment: [Recombinant human deoxyribonuclease for cystic fibrosis: therapy with rhDNase over a one month period is associated with an improvement in lung function in CF. Therapy over a two year period(based on one trial) significantly imporved FEV1 in children. Voice alteration and rash appear to be the only adverse events reported with increased frequency in randomized controlled trials.]

Sputum
type: Class
subclass of: Body substance
comment: Concept: Sputum CUI: C0038056 Semantic Type: Body Substance Definition: Material coughed up from the lungs and expectorated via the mouth. It contains MUCUS, cellular debris, and microorganisms. It may also contain blood or pus. (MeSH) mucus material produced by the cells lining the respiratory tract. (CRISP Thesaurus) Material containing mucus, cellular debris, microorganisms and sometimes blood or pus. It is ejected through the mouth from the lungs, bronchi, and trachea. (NCI Thesaurus)

Recombinant human deoxyribonuclease
type: Class
comment: Synonyms: rhDNase
subclass of: Pharmacologic substance
subclass of: Therapeutic procedure

Adolescent CF
type: Class
equivalent class: Class
  intersection of: Patient CF with age group
  intersection of: Restriction
    on property: occur in age group
    some values from: Adolescent age group
comment: [in adolescents or adults; delayed onset of puberty; bronchiectasis]
subclass of: Restriction
  on property: has manifestation
  some values from: Deferred puberty
subclass of: Restriction
  some values from: Bronchiectasis
  on property: has manifestation

Bronchiectasis
type: Class
subclass of: Bronchial diseases
subclass of: Diagnostic result
comment: Concept: Bronchiectasis CUI: C0006267 Semantic Type: Disease or Syndrome(UMLS) Definition: Persistent abnormal dilatation of the bronchi. (MeSH)

Child CF
type: Class
subclass of: Restriction
  on property: has manifestation
  some values from: Nasal polyps
subclass of: Restriction
  on property: has manifestation
  some values from: Heat exhaustion
subclass of: Restriction
  on property: has manifestation
  some values from: Underweight
subclass of: Restriction
  on property: has manifestation
  some values from: Class
    union of: Bronchiectasis
    union of: Recurrent lower respiratory tract infection
equivalent class: Class
  intersection of: Patient CF with age group
  intersection of: Restriction
    on property: occur in age group
    some values from: Child age group
comment: [in older children: incomplete intestinal obstruction; nasal polyps,especially if recurrent; bronchiectasis or recurrent chest infections; heat prostration; underweight child]

Heat exhaustion
type: Class
subclass of: Pathologic function
subclass of: Conditions
comment: Concept: Heat Exhaustion CUI: C0018839 Semantic Type: Injury or Poisoning(UMLS) Definition: An effect of excessive exposure to heat occurring commonly among workers in furnace rooms, foundries, etc., although it may occur from exposure to the sun's heat (SUNSTROKE). It is marked by subnormal temperature, with dizziness, headache, nausea, and sometimes delirium and/or collapse. It is distinguished from HEAT STROKE, in which the body temperature may be dangerously elevated. (Dorland, 27th ed) (MeSH)

Infant newborn CF
type: Class
equivalent class: Class
  intersection of: Patient CF with age group
  intersection of: Restriction
    some values from: Infant newborn age group
    on property: occur in age group
comment: [in the newborn: intestinal obstruction caused by meconium ileus or atresia; prolonged jaundice]
subclass of: Restriction
  some values from: Prolonged icterus
  on property: has manifestation

Delta Phe508
type: Class
comment: [alternative name: Delta_Phe_508], p.Phe508del
equivalent class: Class
  intersection of: Restriction
    on property: delete
    some values from: Phe
  intersection of: Restriction
    some values from: Phe508
    on property: locate in
  intersection of: Restriction
    some values from: Human CFTR gene exon 10
    on property: locate in
subclass of: Mutation result
subclass of: Amino acid deletion in human CFTR protein
subclass of: Related Delta Phe508

Non invasive ventilation
type: Class
comment: [Non-invasive ventilation may be a useful adjunct to other airway clearance techniques, particularly in people with CF who have difficulty expectorating sputum.]
subclass of: Therapeutic procedure
subclass of: Clearance of airway

Adult female cystic fibrosis
type: Class
comment: [infertile females with scanty cervical mucus]
equivalent class: Class
  intersection of: Adult CF
  intersection of: Restriction
    some values from: Female
    on property: occur in gender group
subclass of: Restriction
  on property: has manifestation
  some values from: Class
    intersection of: Infertility
    intersection of: Scanty cervix mucus

Insufficient
type: Class
comment: Concept: Insufficient CUI: C0231180 Semantic Type: Functional Concept Definition: None found.
subclass of: Functional concept

Drug Administration Schedule
type: Class
subclass of: Temporal concept
comment: Concept: Drug Administration Schedule CUI: C0013154 Semantic Type: Temporal Concept Definition: Time schedule for administration of a drug in order to achieve optimum effectiveness and convenience. (MeSH)

Food hypersensitivity
type: Class
subclass of: Immune system diseases
comment: Concept: Food Allergy CUI: C0016470 Semantic Type: Disease or Syndrome Definition: Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food. (MeSH)

Immune system diseases
type: Class
comment: Concept: Immune System Diseases CUI: C0021053 Semantic Type: Disease or Syndrome Definition: Disorders caused by abnormal or absent immunologic mechanisms, whether humoral, cell-mediated, or both. (MeSH)
subclass of: Diseases

Coughing
type: Class
subclass of: Signs and symptoms respiratory
comment: Concept: Coughing CUI: C0010200 Semantic Type: Sign or Symptom(UMLS) Definition: A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. It is a protective response that serves to clear the trachea, bronchi, and/or lungs of irritants and secretions, or to prevent aspiration of foreign materials into the lungs. (MeSH)

G transversion C
type: Class
equivalent class: Class
  intersection of: Restriction
    some values from: G
    on property: substitute from
  intersection of: Restriction
    some values from: C
    on property: substitute with
  intersection of: General transversion
comment: G is changed to C, in cDNA

Nutrition therapy
type: Class
subclass of: Therapy
subclass of: Therapeutic procedure
comment: Concept: Nutrition Therapy CUI: C1306342 Semantic Type: Therapeutic or Preventive Procedure Definition: Administration of food and fluids to support metabolic processes of a patient who is malnourished or at high risk for becoming malnourished (Nursing Interventions Classification) Providing food, fluid and/or nutrients to a client/patient who is malnourished or at high risk of becoming malnourished. Service is billed in 15-minute increments. (Alternative Billing Concepts) <Concept: Nutritional Support CUI: C0242739 Semantic Type: Therapeutic or Preventive Procedure Definition: The administration of nutrients for assimilation and utilization by a patient by means other than normal eating. It does not include FLUID THERAPY which normalizes body fluids to restore WATER-ELECTROLYTE BALANCE. (MeSH) Interventions to modify or maintain nutritional status (Nursing Interventions Classification) >

Chinese people
type: Class
comment: Concept: Chinese People CUI: C0152035 Semantic Type: Population Group Definition: native or inhabitant of China. (CRISP Thesaurus) The population group. (Metathesaurus Names)
subclass of: Ethnic group

Body location or region
type: Class
comment: Semantic Type: Body Location or Region TUI: T029 Definition: An area, subdivision, or region of the body demarcated for the purpose of topographical description.
subclass of: Spatial concept

A transversion C
type: Class
comment: A is changed to C, in cDNA
equivalent class: Class
  intersection of: Restriction
    some values from: A
    on property: substitute from
  intersection of: Restriction
    on property: substitute with
    some values from: C
  intersection of: General transversion

Gly542X
type: Class
equivalent class: Class
  intersection of: Restriction
    on property: locate in
    some values from: Gly542
  intersection of: Restriction
    some values from: Human CFTR gene exon 11
    on property: locate in
  intersection of: Restriction
    some values from: Gly
    on property: substitute from
  intersection of: Restriction
    some values from: Nonsense codon
    on property: substitute with
comment: [alternative name: Gly_542_X], p.Gly542X, G542X
subclass of: Mutation result
subclass of: Amino acid substitution in human CFTR protein
subclass of: Related Gly542X

Gly
type: Class
subclass of: Amino acids
comment: [Abbreviation: Gly, G; full name: Glycine]
comment: Concept: Glycine CUI: C0017890 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. (MeSH) non-essential amino acid; found primarily in gelatin and silk fibroin and used therapeutically as a nutrient; it is also a fast inhibitory neurotransmitter. (CRISP Thesaurus)

u
type: Class
subclass of: Nucleotide
subclass of: Pyrimidines and derivatives
comment: UMP, uridine monophosphate,in RNA

Bronchial diseases
type: Class
comment: Concept: Bronchial Diseases CUI: C0006261 Semantic Type: Disease or Syndrome Definition: None found.
subclass of: Respiratory tract diseases

Icterus
type: Class
subclass of: Pathologic function
comment: Concept: Icterus CUI: C0022346 Semantic Type: Pathologic Function Definition: A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction. (MeSH) clinical manifestation of hyperbilirubinemia, consisting of deposition of bile pigments in the skin, resulting in a yellowish staining of the skin and mucous membranes. (CRISP Thesaurus) [In the newborn: prolonged jaundice [jaundice]

Patient CF with pamidronate intravenous
type: Class
subclass of: Restriction
  some values from: Bone density increased axially
  on property: has manifestation
equivalent class: Class
  intersection of: Patient CF with therapy
  intersection of: Restriction
    on property: treat by
    some values from: Pamidronate intravenous
comment: [Intravenous pamidronate increases BMD at axial sites in people with CF, although it can cause severe bone pain in participants not receiving corticosteroids. ]

Gene therapy
type: Class
comment: Concept: gene therapy CUI: C0017296 Semantic Type: Therapeutic or Preventive Procedure Definition: The introduction of new genes into cells for the purpose of treating disease by restoring or adding gene expression. Techniques include insertion of retroviral vectors, transfection, homologous recombination, and injection of new genes into the nuclei of single cell embryos. The entire gene therapy process may consist of multiple steps. The new genes may be introduced into proliferating cells in vivo (e.g., bone marrow) or in vitro (e.g., fibroblast cultures) and the modified cells transferred to the site where the gene expression is required. Gene therapy may be particularly useful for treating enzyme deficiency diseases, hemoglobinopathies, and leukemias and may also prove useful in restoring drug sensitivity, particularly for leukemia. (MeSH) introduction of functioning gene or genes into cells for the purpose of correcting an inborn genetic error, treating a disease by restoring or adding gene expression, or providing a new function to the cell; new genes may be introduced into proliferating cells in vivo (e.g., bone marrow) or in vitro (e.g., fibroblast cultures) and the modified cells transferred to the site where the gene expression is required. (CRISP Thesaurus) Application of genetic material (usually DNA) into cells in order to permanently correct an inherited disease or an acquired disease such as cancer. The genetic material as 'naked' DNA can be delivered into the cells alone or can be delivered into cells by different types of vectors such as viruses which may contain DNA or RNA. Gene therapy techniques attempt to replace a faulty/missing gene associated with a particular disease, mediate localized delivery of a protein producing specified therapeutic effects, or introduce new cellular functions. Gene therapies are designed to deliver genetic material into somatic cells and not germ cells, so that only cells of patients and not those of their offspring co…
subclass of: Therapy

Exon
type: Class
subclass of: DNA
comment: Concept: Exons CUI: C0015295 Semantic Type: Nucleic Acid, Nucleoside, or Nucleotide Biologically Active Substance Definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or structural RNA. (MeSH)

Rectal prolapse
type: Class
comment: Concept: Rectal Prolapse CUI: C0034888 Semantic Type: Disease or Syndrome Definition: Protrusion of the rectal mucous membrane through the anus. There are various degrees: incomplete with no displacement of the anal sphincter muscle; complete with displacement of the anal sphincter muscle; complete with no displacement of the anal sphincter muscle but with herniation of the bowel; and internal complete with rectosigmoid or upper rectum intussusception into the lower rectum. (MeSH)
subclass of: Rectal diseases
subclass of: Diagnostic result

Rectal diseases
type: Class
comment: Concept: Rectal Diseases CUI: C0034882 Semantic Type: Disease or Syndrome Definition: Pathological developments in the RECTUM region of the large intestine (INTESTINE, LARGE). (MeSH)
subclass of: Intestinal diseases

Amino acid peptide or protein
type: Class
comment: Semantic Type: Amino Acid, Peptide, or Protein TUI: T116 Definition: Amino acids and chains of amino acids connected by peptide linkages.
subclass of: Chemical

Lipopolyplexes vector gene therapy
type: Class
subclass of: Therapeutic procedure
subclass of: Non viral vector gene therapy
comment: [Synthetic non-viral vectors can be formed by associating the nucleic acid sequences with cationic lipids to form lipoplexes, with cationic polymers to form polyplexes, or with both cationic lipids and polymers to form lipopolyplexes.]

Leu
type: Class
comment: [full name: Leucine]
comment: Concept: Leucine CUI: C0023401 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: An essential branched-chain amino acid important for hemoglobin formation. (MeSH) essential branched-chain amino acid important for hemoglobin formation. (CRISP Thesaurus) One of nine essential amino acids in humans (provided by food), Leucine is important for protein synthesis and many metabolic functions. Leucine contributes to regulation of blood-sugar levels; growth and repair of muscle and bone tissue; growth hormone production; and wound healing. Leucine also prevents breakdown of muscle proteins after trauma or severe stress and may be beneficial for individuals with phenylketonuria. Leucine is available in many foods and deficiency is rare. (NCI04) (NCI Thesaurus) [Abbreviation: Leu, L]
subclass of: Amino acids

G1717 minus 1 A
type: Class
comment: c.1717-1G>A
subclass of: Nucleotide transition in human CFTR gene
subclass of: Mutation result
subclass of: G transition A
subclass of: Related G1717 minus 1 A
equivalent class: Class
  intersection of: Restriction
    some values from: G1717 minus 1
    on property: locate in
  intersection of: Restriction
    on property: has transition property
    some values from: G transition A
  intersection of: Restriction
    some values from: Human CFTR gene intron 10
    on property: locate in

Patient CF with G1717 minus 1 A
type: Class
comment: [1717-1G->A]
subclass of: Restriction
  some values from: Pancreatic insufficiency
  on property: has manifestation
subclass of: Restriction
  on property: has ethinic origin
  some values from: Italians
subclass of: Statement
subclass of: Related G1717 minus 1 A
equivalent class: Class
  intersection of: Patient CF with nucleotide mutation
  intersection of: Restriction
    on property: has mutational property
    some values from: G1717 minus 1 A

Patient CF with G621 plus 1 T
type: Class
comment: [621+1G->T]
equivalent class: Class
  intersection of: Patient CF with nucleotide mutation
  intersection of: Restriction
    some values from: G621 plus 1 T
    on property: has mutational property
subclass of: Restriction
  some values from: French population
  on property: has ethinic origin
subclass of: Restriction
  on property: has manifestation
  some values from: Pancreatic insufficiency
subclass of: Statement
subclass of: Related G621 plus 1 T

French population
type: Class
comment: Concept: French Population CUI: C0016702 Semantic Type: Population Group Definition: None found.
subclass of: Ethnic group

Body weight changes
type: Class
subclass of: Sign and symptom
comment: Concept: Body Weight Changes CUI: C0005911 Semantic Type: Finding Definition: A clinical manifestation consisting of alterations in an individual's weight from his or her norm. (MeSH)

Cys
type: Class
comment: [Abbreviation: Cys, C; full name: Cysteine]
comment: Concept: Cysteine CUI: C0010654 Semantic Type: Amino Acid, Peptide, or Protein Biologically Active Substance Definition: A thiol-containing non-essential amino acid that is oxidized to form CYSTINE. (MeSH) primary aminoacid with the side group -CH2SH, capable of forming disulfide bonds (cystine) with other cysteine residues to stabilize protein tertiary and oligomeric structure. (CRISP Thesaurus) A non-essential sulfur-containing amino acid in humans, related to cystine, Cysteine is important for protein synthesis, detoxification, and diverse metabolic functions. Found in beta-keratin, the main protein in nails, skin, and hair, Cysteine is important in collagen production, as well as skin elasticity and texture. Also required in the manufacture of amino acid taurine, Cysteine is a component of the antioxidant glutathione, and plays a role in the metabolism of essential biochemicals such as coenzyme A, heparin, and biotin. (NCI04) (NCI Thesaurus)
subclass of: Amino acids

Georgians
type: Class
subclass of: Ethnic group
comment: Concept: Georgians CUI: C0337804 Semantic Type: Population Group Definition: None found.

Met
type: Class
comment: [Abbreviation: Met, M; full name: Methionine]
comment: Concept: Methionine CUI: C0025646 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: A sulfur containing essential amino acid that is important in many body functions. It is a chelating agent for heavy metals. (MeSH) primary aminoacid with the side chain -CH2CH2SCH3, which, in the form of its S-adenosyl derivative (SAM), also serves as the principle methyl group donor of biosynthetic pathways. (CRISP Thesaurus) One of nine essential amino acids in humans (provided by food), Methionine is required for growth and tissue repair. A sulphur-containing amino acid, methionine improves the tone and pliability of skin, hair, and strengthens nails. Involved in many detoxifying processes, sulphur provided by methionine protects cells from pollutants, slows cell aging, and is essential for absorption and bio-availability of selenium and zinc. Methionine chelates heavy metals, such as lead and mercury, aiding their excretion. It also acts as a lipotropic agent and prevents excess fat buildup in the liver. (NCI04) (NCI Thesaurus)
subclass of: Amino acids

Anti staphylococcal antibiotic orally before six years old
type: Class
equivalent class: Class
  intersection of: Anti staphylococcal antibiotic orally
  intersection of: Restriction
    some values from: From infancy up to six years old
    on property: has temporal property
subclass of: Therapeutic procedure
comment: [commenced early in infancy and continued up to six years of age]

Intravenous route of drug administration
type: Class
comment: Concept: Intravenous Route of Drug Administration CUI: C1522726 Semantic Type: Functional Concept Definition: 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 phrase, provides a precise and continuous mode of drug therapy, especially for drugs with a narrow therapeutic index. FDA CDER (HL7) numeric code: 002 (NCI Thesaurus)
subclass of: Functional concept
subclass of: Therapeutic procedure

Asn1303Lys
type: Class
subclass of: Mutation result
subclass of: Amino acid substitution in human CFTR protein
subclass of: Related Asn1303Lys
equivalent class: Class
  intersection of: Restriction
    some values from: Asn1303
    on property: locate in
  intersection of: Restriction
    on property: locate in
    some values from: Human CFTR gene exon 21
  intersection of: Restriction
    some values from: Asn
    on property: substitute from
  intersection of: Restriction
    on property: substitute with
    some values from: Lys
comment: [alternative name: Asn_1303_Lys], p.Asn1303Lys,N1303K

Asn
type: Class
comment: Concept: Asparagine CUI: C0003995 Semantic Type: Amino Acid, Peptide, or Protein Biologically Active Substance Definition: A non-essential amino acid that is involved in the metabolic control of cell functions in nerve and brain tissue. It is biosynthesized from ASPARTIC ACID and AMMONIA by asparagine synthetase. (From Concise Encyclopedia Biochemistry and Molecular Biology, 3rd ed) (MeSH) non-essential amino acid that is involved in the metabolic control of cell functions in nerve and brain tissue; biosynthesized from aspartic acid and ammonia by asparagine synthetase. (CRISP Thesaurus) A non-essential amino acid in humans, Asparagine is a beta-amido derivative of aspartic acid and plays an important role in the biosynthesis of glycoproteins and other proteins. A metabolic precursor to aspartate, Asparagine is a nontoxic carrier of residual ammonia to be eliminated from the body. Asparagine acts as diuretic. (NCI04) (NCI Thesaurus)
comment: [Abbreviation: Asn, N, Asx, B; full name: Asparagine]
subclass of: Asx

Puberty
type: Class
comment: Concept: Puberty CUI: C0034011 Semantic Type: Organism Function(UMLS) Definition: A period in the human life in which the development of the hypothalamic-pituitary-gonadal system takes place and reaches full maturity. The onset of synchronized endocrine events in puberty lead to the capacity for reproduction (FERTILITY), development of secondary SEX CHARACTERISTICS, and other changes seen in ADOLESCENT DEVELOPMENT. (MeSH)
subclass of: Organism function

Lipoplexes vector gene therapy
type: Class
subclass of: Therapeutic procedure
subclass of: Non viral vector gene therapy
comment: [Synthetic non-viral vectors can be formed by associating the nucleic acid sequences with cationic lipids to form lipoplexes. [Cationic liposomes are lipid-DNA complexes, less efficient, do not stimulate inflammatory and immunologic responses.]

Osteoporosis
type: Class
comment: Concept: Osteoporosis CUI: C0029456 Semantic Type: Disease or Syndrome Definition: Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. (MeSH) loss of bone mass and strength due to nutritional, metabolic, or other factors, usually resulting in deformity or fracture; a major public health problem of the elderly, especially women. (CRISP Thesaurus) RAEB: A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). (NCI Thesaurus)
subclass of: Diseases
subclass of: Diagnostic result

Improved
type: Class
comment: Concept: Improved CUI: C0184511 Semantic Type: Qualitative Concept Definition: None found.
subclass of: Qualitative concept

Arg
type: Class
comment: Concept: Arginine CUI: C0003765 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: An essential amino acid that is physiologically active in the L-form. (MeSH) essential amino acid physiologically active in the L-form. (CRISP Thesaurus) An essential amino acid in juvenile humans, Arginine is a complex amino acid, often found at active site in proteins and enzymes due to its amine-containing side chain. Arginine may prevent or treat heart and circulatory diseases, combat fatigue, and stimulate the immune system. It also boosts production of nitric oxide, relaxing blood vessels, and treating angina and other cardiovascular problems. Arginine is also an important intermediate in the urea cycle and in detoxification of nitrogenous wastes. (NCI04) (NCI Thesaurus)
comment: [Abbreviation: Arg, R; full name: Arginine]
subclass of: Amino acids

Respiratory tract diseases
type: Class
comment: Concept: Respiratory Tract Diseases CUI: C0035242 Semantic Type: Disease or Syndrome Definition: None found.
subclass of: Diseases

Deferred
type: Class
comment: Concept: Deferred CUI: C0205421 Semantic Type: Temporal Concept Definition: The state of being slower or later. (NCI Thesaurus) Time during which some action is awaited; inactivity resulting in something being put off until a later time. (NCI Thesaurus)
subclass of: Temporal concept

Population group
type: Class
subclass of: Group
comment: Semantic Type: Population Group TUI: T098 Definition: An indivdual or individuals classified according to their sex, racial origin, religion, common place of living, financial or social status, or some other cultural or behavioral attribute.

Gly551Asp
type: Class
subclass of: Mutation result
subclass of: Amino acid substitution in human CFTR protein
subclass of: Related Gly551Asp
comment: [alternative name: Gly_551_Asp], p.Gly551Asp, G551D
equivalent class: Class
  intersection of: Restriction
    some values from: Gly551
    on property: locate in
  intersection of: Restriction
    some values from: Human CFTR gene exon 11
    on property: locate in
  intersection of: Restriction
    some values from: Gly
    on property: substitute from
  intersection of: Restriction
    some values from: Asp
    on property: substitute with

Asp
type: Class
subclass of: Asx
comment: Concept: Aspartic Acid CUI: C0004015 Semantic Type: Amino Acid, Peptide, or Protein Biologically Active Substance Definition: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter. (MeSH) A non-essential amino acid in humans, Aspartic Acid has an overall negative charge and plays an important role in the synthesis of other amino acids and in the citric acid and urea cycles. Asparagine, arginine, lysine, methionine, isoleucine, and some nucleotides are synthesized from aspartic acid. Aspartic acid also serves as a neurotransmitter. (NCI04) (NCI Thesaurus)
comment: [Abbreviation: Asp, D, Asx, B; full name: Aspartic_acid] [Synonyms: Aspartate]

Short arm of chromosome human
type: Class
comment: [p]
subclass of: Arm of chromosome

Dehydration
type: Class
subclass of: Disease or syndrome
subclass of: Conditions
comment: Concept: Dehydration CUI: C0011175 Semantic Type: Disease or Syndrome Definition: The condition that results from excessive loss of water from a living organism. (MeSH)

Physiologic function
type: Class
comment: Semantic Type: Physiologic Function TUI: T039 Definition: A normal process, activity, or state of the body.
subclass of: Phenomenon or process

C transversion A
type: Class
equivalent class: Class
  intersection of: Restriction
    some values from: C
    on property: substitute from
  intersection of: Restriction
    some values from: A
    on property: substitute with
  intersection of: General transversion
comment: C is changed to A, in cDNA

Patient CF with azithromycin orally three times a week
type: Class
subclass of: Restriction
  on property: has side effect
  some values from: Increase
equivalent class: Class
  intersection of: Patient CF with azithromycin orally
  intersection of: Restriction
    some values from: Azithromycin orally three times a week
    on property: treat by
comment: [The largest study employed a three times a week dose and, in this study, treatment with azithromycin was associated with a significant increase in mild adverse events.]

Glu
type: Class
comment: [Abbreviation: Glu, E, Glx, Z; full name: Glutamic_acid] [Synonyms: Glutamate]
comment: Concept: Glutamic Acid CUI: C0061472 Semantic Type: Amino Acid, Peptide, or Protein Biologically Active Substance Definition: A non-essential amino acid naturally occurring in the L-form. Glutamic acid is the most common excitatory neurotransmitter in the CENTRAL NERVOUS SYSTEM. (MeSH)
subclass of: Glx

Gln
type: Class
subclass of: Glx
comment: [full name: Glutamine]
comment: Concept: Glutamine CUI: C0017797 Semantic Type: Amino Acid, Peptide, or Protein Biologically Active Substance Definition: A non-essential amino acid present abundantly throughout the body and is involved in many metabolic processes. It is synthesized from GLUTAMIC ACID and AMMONIA. It is the principal carrier of NITROGEN in the body and is an important energy source for many cells. (MeSH) non-essential amino acid present abundantly throughout the body and involved in many metabolic processes; synthesized from glutamic acid and ammonia; the principal carrier of nitrogen in the body and an important energy source for many cells. (CRISP Thesaurus) A nonessential amino acid. Glutamine can donate the ammonia on its side chain to the formation of urea (for eventual excretion by the kidneys) and to purines (necessary for the synthesis of nucleic acids). Glutamine may become a conditionally essential nutrient during certain catabolic states. (NCI04) (NCI Thesaurus) [Abbreviation: Gln, Q, Glx, Z]

Arg553X
type: Class
comment: [alternative name: Arg_553_X], p.Arg553X,R553X
equivalent class: Class
  intersection of: Restriction
    on property: locate in
    some values from: Arg553
  intersection of: Restriction
    some values from: Human CFTR gene exon 11
    on property: locate in
  intersection of: Restriction
    on property: substitute from
    some values from: Arg
  intersection of: Restriction
    some values from: Nonsense codon
    on property: substitute with
subclass of: Mutation result
subclass of: Amino acid substitution in human CFTR protein
subclass of: Related Arg553X

Pro
type: Class
subclass of: Amino acids
comment: [Abbreviation: Pro, P; full name: Proline]
comment: Concept: Proline CUI: C0033382 Semantic Type: Amino Acid, Peptide, or Protein Biologically Active Substance Definition: A non-essential amino acid that is synthesized from GLUTAMIC ACID. It is an essential component of COLLAGEN and is important for proper functioning of joints and tendons. (MeSH) cyclic amino acid, 2-pyrrolidine-carboxylic acid, synthesized from glutamic acid; an essential component of collagen and important for proper functioning of joints and tendons. (CRISP Thesaurus) A cyclic, nonessential amino acid (actually, an imino acid) in humans (synthesized from glutamic acid and other amino acids), Proline is a constituent of many proteins. Found in high concentrations in collagen, proline constitutes almost a third of the residues. Collagen is the main supportive protein of skin, tendons, bones, and connective tissue and promotes their health and heeling. (NCI04) (NCI Thesaurus)

Bone density
type: Class
subclass of: Clinical attribute
comment: Concept: Bone Density CUI: C0005938 Semantic Type: Clinical Attribute Definition: The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by photon absorptiometry or x-ray computed tomography. (MeSH) amount of bone tissue and minerals in a certain volume of bone. (CRISP Thesaurus) [bone mineral density; BMD] [Synonyms: Bone Mineral Density]

T transversion G
type: Class
comment: T is changed to G, in cDNA
equivalent class: Class
  intersection of: Restriction
    some values from: T
    on property: substitute from
  intersection of: Restriction
    on property: substitute with
    some values from: G
  intersection of: General transversion

Patient CF with neonatal screening for cystic fibrosis
type: Class
comment: [Newborn screening for cystic fibrosis: nutritional benefits are apparent. Screening provide a potential opportunity for better pulmonary outcomes.]
subclass of: Restriction
  on property: has manifestation
  some values from: Nutritional status improved
equivalent class: Class
  intersection of: Restriction
    on property: screen by
    some values from: Neonatal screening for cystic fibrosis
  intersection of: Patient CF

Adrenal cortex hormones
type: Class
subclass of: Pharmacologic substance
comment: Concept: Adrenal Cortex Hormones CUI: C0001617 Semantic Type: Steroid Pharmacologic Substance Hormone Definition: any of the 21-carbon steroids elaborated by the adrenal cortex (excluding the sex hormones of adrenal origin) in response to adrenocorticotropic hormone (ACTH) released by the pituitary gland or to angiotensin II; called also adrenocorticoid, corticoid, adrenal cortical or adrenocortical steroid, and adrenocortical or cortical hormone. (CRISP Thesaurus) Hormones synthesized in the cortex of the adrenal gland and consist of two subclasses, glucocorticoids (carbohydrate regulation) and mineralocorticoids (electrolyte regulation).(NCI) (NCI Thesaurus) [Synonyms: Corticoids ;Corticosteroids]

Dutch population
type: Class
subclass of: Ethnic group
comment: Concept: Dutch Population CUI: C0013331 Semantic Type: Population Group Definition: None found.

Val
type: Class
comment: [Abbreviation: Val, V; full name: Valine]
comment: Concept: Valine CUI: C0042285 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: A branched-chain essential amino acid that has stimulant activity. It promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway. (MeSH) branched chain essential aminoacid. (CRISP Thesaurus) An aliphatic and extremely hydrophobic essential amino acid in humans related to leucine, Valine is found in many proteins, mostly in the interior of globular proteins helping to determine three-dimensional structure. A glycogenic amino acid, valine maintains mental vigor, muscle coordination, and emotional calm. Valine is obtained from soy, cheese, fish, meats and vegetables. Valine supplements are used for muscle growth, tissue repair, and energy. (NCI04) (NCI Thesaurus)
subclass of: Amino acids

Patient CF with Gly542X
type: Class
subclass of: Statement
subclass of: Restriction
  on property: has ethinic origin
  some values from: Spaniards
subclass of: Related Gly542X
subclass of: Restriction
  some values from: Pancreatic insufficiency
  on property: has manifestation
subclass of: Restriction
  on property: has manifestation
  some values from: Meconium ileus
equivalent class: Class
  intersection of: Patient CF with amino acid change
  intersection of: Restriction
    some values from: Gly542X
    on property: has mutational property
comment: [G542X]

C transversion G
type: Class
comment: C is changed to G, in cDNA
equivalent class: Class
  intersection of: Restriction
    on property: substitute from
    some values from: C
  intersection of: Restriction
    on property: substitute with
    some values from: G
  intersection of: General transversion

c
type: Class
subclass of: Nucleotide
subclass of: Pyrimidines and derivatives
comment: CMP, cytidine monophosphate,in RNA

Adolescent female CF
type: Class
subclass of: Restriction
  on property: has manifestation
  some values from: Class
    intersection of: Infertility
    intersection of: Scanty cervix mucus
comment: [infertile females with scanty cervical mucus]
equivalent class: Class
  intersection of: Adolescent CF
  intersection of: Restriction
    some values from: Female
    on property: occur in gender group

Adolescent male CF
type: Class
subclass of: Restriction
  on property: has manifestation
  some values from: Sterility
equivalent class: Class
  intersection of: Adolescent CF
  intersection of: Restriction
    on property: occur in gender group
    some values from: Male
comment: [sterile or azospermic males]

Atresia
type: Class
subclass of: Congenital abnormality
subclass of: Conditions
comment: CUI: C0243066 Semantic Type: Congenital Abnormality (UMLS)

African American
type: Class
subclass of: Ethnic group
comment: Concept: African American CUI: C0085756 Semantic Type: Population Group Definition: any person with African ethnic background whose home or birthplace is in the Americas, exluding AFRICAN CARIBBEAN. (CRISP Thesaurus) Persons living in the United States having origins in any of the black groups of Africa. (MeSH) African American; term used in the Unated States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa, most of whose ancestors were brought from Africa to the Americas as slaves between the sixteenth and nineteenth centuries.Includes population subgroups, e.g. Kenyan, Nigerian, or Haitian. The concept refers also to individuals who classify themselves as described below. (NCI Thesaurus)

His
type: Class
subclass of: Amino acids
comment: [Abbreviation: His, H; full name: Histidine]
comment: Concept: Histidine CUI: C0019602 Semantic Type: Amino Acid, Peptide, or Protein Pharmacologic Substance Biologically Active Substance Definition: An essential amino acid that is required for the production of HISTAMINE. (MeSH) essential amino acid that contains the imidazole ring system. (CRISP Thesaurus) A semi-essential amino acid (children should obtain it from food) needed in humans for growth and tissue repair, Histidine is important for maintenance of myelin sheaths that protect nerve cells and is metabolized to the neurotransmitter histamine. Histamines play many roles in immunity, gastric secretion, and sexual functions. Histidine is also required for blood cell manufacture and protects tissues against damage caused by radiation and heavy metals. (NCI04) (NCI Thesaurus)

English population
type: Class
subclass of: Ethnic group
comment: Concept: English Population CUI: C0014283 Semantic Type: Population Group Definition: None found.

T transversion A
type: Class
equivalent class: Class
  intersection of: Restriction
    on property: substitute from
    some values from: T
  intersection of: Restriction
    some values from: A
    on property: substitute with
  intersection of: General transversion
comment: T is changed to A, in cDNA

Patient CF with anti staphylococcal antibiotic orally before six years old
type: Class
comment: [Anti-staphylococcal antibiotic prophylaxis leads to fewer children having isolates of Staphylococcus aureus, when commenced early in infancy and continued up to six years of age.]
subclass of: Restriction
  on property: has manifestation
  some values from: Decreased isolation of staphylococcus aureus
equivalent class: Class
  intersection of: Patient CF with therapy
  intersection of: Restriction
    some values from: Anti staphylococcal antibiotic orally before six years old
    on property: treat by

Patient CF with Arg553X
type: Class
equivalent class: Class
  intersection of: Patient CF with amino acid change
  intersection of: Restriction
    on property: has mutational property
    some values from: Arg553X
comment: [R553X]
subclass of: Restriction
  on property: has ethinic origin
  some values from: German population
subclass of: Restriction
  on property: has manifestation
  some values from: Pancreatic insufficiency
subclass of: Statement
subclass of: Related Arg553X

German population
type: Class
comment: Concept: German population CUI: C0337805 Semantic Type: Population Group Definition: None found.
subclass of: Ethnic group

A transversion T
type: Class
comment: A is changed to T, in cDNA
equivalent class: Class
  intersection of: Restriction
    on property: substitute from
    some values from: A
  intersection of: Restriction
    on property: substitute with
    some values from: T
  intersection of: General transversion

Infant CF
type: Class
subclass of: Restriction
  some values from: Class
    intersection of: Poor weight gain
    intersection of: Ravenous appetite
  on property: has manifestation
subclass of: Restriction
  on property: has manifestation
  some values from: Distended abdomen
comment: [Infant: rectal prolapse; recurrent loose stools; distended abdomen; milk allergy; recurrent chestiness, coughing, or wheezing; a salty taste to the sweat; poor weight gain, often associated with ravenous appetite; unexplained dehydration]
subclass of: Restriction
  some values from: Milk allergy
  on property: has manifestation
subclass of: Restriction
  on property: has manifestation
  some values from: Rectal prolapse
subclass of: Restriction
  on property: has manifestation
  some values from: Recurrent diarrhea
subclass of: Restriction
  on property: has manifestation
  some values from: Class
    union of: Recurrent coughing
    union of: Recurrent wheezing
subclass of: Restriction
  some values from: Dehydration
  on property: has manifestation
subclass of: Restriction
  on property: has manifestation
  some values from: Salty sweat
equivalent class: Class
  intersection of: Patient CF with age group
  intersection of: Restriction
    some values from: Infant age group
    on property: occur in age group

Patient CF with Asn1303Lys
type: Class
subclass of: Restriction
  some values from: Italians
  on property: has ethinic origin
subclass of: Statement
subclass of: Related Asn1303Lys
equivalent class: Class
  intersection of: Patient CF with amino acid change
  intersection of: Restriction
    some values from: Asn1303Lys
    on property: has mutational property
comment: [N1303K]

Cell or molecular dysfunction
type: Class
comment: Semantic Type: Cell or Molecular Dysfunction TUI: T049 Definition: A pathologic function inherent to cells, parts of cells, or molecules.
subclass of: Pathologic function

Hyperbilirubinemia
type: Class
comment: Concept: Hyperbilirubinemia CUI: C0020433 Semantic Type: Disease or Syndrome Definition: Pathologic process consisting of an abnormal increase in the amount of BILIRUBIN in the circulating BLOOD, which may result in JAUNDICE. (MeSH)
subclass of: Diseases
subclass of: Conditions

Patient CF with Delta Phe508
type: Class
comment: [DeltaF508]
subclass of: Restriction
  some values from: Pancreatic insufficiency
  on property: has manifestation
subclass of: Statement
subclass of: Related Delta Phe508
equivalent class: Class
  intersection of: Patient CF with amino acid change
  intersection of: Restriction
    some values from: Delta Phe508
    on property: has mutational property

Adenine
type: Class
subclass of: Nucleobase
subclass of: Purines and derivatives
comment: Concept: Adenine CUI: C0001407 Semantic Type: Nucleic Acid, Nucleoside, or Nucleotide Biologically Active Substance Definition: A purine base and a fundamental unit of ADENINE NUCLEOTIDES. (MeSH) [abbreviation: A]

a
type: Class
comment: AMP, adenosine monophosphate,in RNA
subclass of: Nucleotide
subclass of: Purines and derivatives