editor preferred label
editor preferred term
editor preferred term~editor preferred label
The concise, meaningful, and human-friendly name for a class or property preferred by the ontology developers. (US-English)
PERSON:Daniel Schober
has curation status
PERSON:Alan Ruttenberg
PERSON:Bill Bug
PERSON:Melanie Courtot
definition
A property representing the English language definitions of what NCI means by the concept. They may also include information about the definition's source and attribution in a form that can easily be interpreted by software.
The official OBI definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
2012-04-05: Barry Smith The official OBI definition, explaining the meaning of a class or property: 'Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions' is terrible. Can you fix to something like: A statement of necessary and sufficient conditions explaining the meaning of an expression referring to a class or property. Alan Ruttenberg Your proposed definition is a reasonable candidate, except that it is very common that necessary and sufficient conditions are not given. Mostly they are necessary, occasionally they are necessary and sufficient or just sufficient. Often they use terms that are not themselves defined and so they effectively can't be evaluated by those criteria. On the specifics of the proposed definition: We don't have definitions of 'meaning' or 'expression' or 'property'. For 'reference' in the intended sense I think we use the term 'denotation'. For 'expression', I think we you mean symbol, or identifier. For 'meaning' it differs for class and property. For class we want documentation that let's the intended reader determine whether an entity is instance of the class, or not. For property we want documentation that let's the intended reader determine, given a pair of potential relata, whether the assertion that the relation holds is true. The 'intended reader' part suggests that we also specify who, we expect, would be able to understand the definition, and also generalizes over human and computer reader to include textual and logical definition. Personally, I am more comfortable weakening definition to documentation, with instructions as to what is desirable. We also have the outstanding issue of how to aim different definitions to different audiences. A clinical audience reading chebi wants a different sort of definition documentation/definition from a chemistry trained audience, and similarly there is a need for a definition that is adequate for an ontologist to work with.
editor note
An administrative note intended for its editor. It may not be included in the publication version of the ontology, so it should contain nothing necessary for end users to understand the ontology.
term editor
Name of editor entering the term in the file. The term editor is a point of contact for information regarding the term. The term editor may be, but is not always, the author of the definition, which may have been worked upon by several people
20110707, MC: label update to term editor and definition modified accordingly. See http://code.google.com/p/information-artifact-ontology/issues/detail?id=115.
20110707, MC: label update to term editor and definition modified accordingly. See https://github.com/information-artifact-ontology/IAO/issues/115.
alternative term
An alternative name for a class or property which means the same thing as the preferred name (semantically equivalent)
definition source
formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007
Discussion on obo-discuss mailing-list, see http://bit.ly/hgm99w
imported from
An association created to allow the source NICHD to assign a parent to each concept with the intent of creating a hierarchy that includes only terms in which they are a contributing source.
An association that indicates that a finding or lab test is related to a gene, possibly through a variant or product.
An association that connects a drug or other agent to a clinically intended, molecular-scale target. The target value may be a gene, gene product, anatomic structure, biological process, or other concept, where the effect of the agent on the target is thought to be of therapeutic, diagnostic, or other clinical relevance to a disease process. The effect is most often direct, as defined at a molecular scale, but may also be indirect and/or defined at a larger scale.
A property representing a concept unique identifier within the NCI Enterprise Vocabulary Service's NCI Thesaurus.
A property that represents a description of the sort of thing or category to which a concept belongs in the context of the UMLS semantic network.
In general, applying semantic types aids in allowing users (or computer programs) to draw conclusions about concepts by virtue of the categories to which they have been assigned. We use a set of semantic types developed for the UMLS Metathesaurus. There are currently 134 semantic types in the UMLS.
A property representing an alternative Preferred Name for use in some NCI systems.
A property representing the word or phrase that NCI uses by preference to refer to the concept.
A property representing the concept unique identifier (CUI) assigned by the National Library of Medicine (NLM). If a concept in any NCI-maintained knowledgebase exists in the NLM Unified Medical Language System (UMLS), NCI includes the NLM CUI among the information we provide about the concept.
A property representing the concept unique identifier (CUI) for those concepts that appear in NCI Metathesaurus but not in the National Library of Medicine Unified Medical Language System (NLM UMLS).
A property representing the Chemical Abstracts Service number for a Chemical or Drug.
A property representing a disease or condition for which this drug is an accepted treatment. Used in the Drug, Food, Chemical or Biomedical Material branch.
A property used to indicate the standing of a concept in relation to currently accepted classifications and concepts. In NCI Thesaurus concept status subtype indicates concepts with unusual and problematic characteristics that should be evaluated by people and/or programs before those concept are used.
A property representing the dbSNP id number for the genetic polymorphism due to base substitutions.
A property representing the FDA Unique Ingredient Identifier, a key component of the federal drug information model.
A property is used to indicate when a non-EVS entity has contributed to, and has a stake in, a concept. This is used where such entities, within or outside NCI, have indicated the need to be able to track their own concepts. A single concept can have multiple instances of this property if multiple entities have such a defined stake.
A property representing the English language definition of a concept from a source other than NCI.
A property representing the identifier used by NCI's Cancer.gov Web site to retrieve PDQ Clinical Trials data for open trials involving specific clinical trials agents. While the identifier is the same for both open and closed trials two properties are used to support requirements of the current browser interface, as well as the possibility of providing values where only open trials will be retrieved.
A property representing the identifier used by NCI's Cancer.gov web site to retrieve PDQ Clinical Trials data for closed trials that involved specific clinical trials agents. While the identifier is the same for both open and closed trials two properties are used to support requirements of the current browser interface, as well as the possibility of providing values where only closed trials will be retrieved.
A property representing a concise expression about the atoms that constitute a particular chemical compound.
A property representing a retired unique concept identifier created and stored as Concept Name by legacy EVS software. Use of these values was long discouraged, but continued as late as 2009 when creation of new values ceased and Concept Name was retired. Legacy values are intended solely to help resolve and update earlier coding.
A property representing that a concept in the 'Drug, Food, Chemical or Biomedical Material' branch of the NCI thesaurus maps to a specific concept in the EBI Chemical Entities of Biological Interest (CHEBI) database.
A property representing a term chosen by NICHD to be used in the representation of the NICHD hierarchy.
A property representing that a term in another terminology has been mapped to a term in NCIt and describes the relationship between the mapped terms.
A property representing notations made by NCI vocabulary curators. They are intended to provide supplemental, unstructured information to the user or additional insight about the concept.
a chinese translation represents a chinese translation of the existing term.
Chinese translation
has_MedDRA_id
A property representing a fully qualified synonym, contains the string, term type, source, and an optional source code if appropriate. Each subfield is deliniated to facilitate interpretation by software.
An association that connects the concept defining a particular terminology subset with concepts that belong to this subset.
label
A role used to relate a disease to the general site, structure or system where the specific pathological process is located.
A role used to relate a disease to the anatomical site where the originating pathological process is located.
A role used to relate a disease to the site of a metastatic lesion associated with the disease.
A role used to relate a disease to the type of normal tissue in which the disease process began.
A role used to relate a disease to a molecular abnormality that is present in the specified disease state.
A role used to relate a disease to a grading system which classifies the cancer cells in terms of how abnormal they appear when examined under a microscope.
A role used to represent that another disease or disorder will only be observed in some cases of the specified disease.
A role used to relate a disease to another disease or disorder, but without specification or limitation of the relationship (causality or timing for example).
A role used to assert a relationship between a procedure and its target anatomy, specifically that a particular procedure always has an association with the target anatomy. This role should be used when a more specific role cannot be asserted, including procedures targeting blood and other fluids.
A role used to assert a relationship between a surgical procedure and its target anatomy, specifically that a particular procedure sometimes results in excision of some or all of the specified anatomy. This role is applicable to procedures or techniques that involve excision of solid tissues or organs. It should be used when a more specific role cannot be asserted.
A role used to assert a relationship between a surgical procedure and its target anatomy, specifically that a particular procedure sometimes results in partial excision of the specified anatomy. This role is applicable to procedures or techniques that involve excision of solid tissues or organs, and where partial excision is explicit or can be inferred
Procedure May Have Partially Excised Anatomy
A role used to assert a relationship between a surgical procedure and its target anatomy, specifically that a particular procedure always involves partial excision of the specified anatomy. This role is applicable to procedures or techniques that involve excision of solid tissues or organs, and where partial excision is explicit or can be inferred
A role used to assert a relationship between a surgical procedure and its target anatomy, specifically that a particular procedure sometimes results in complete excision of the target anatomy. This role is applicable to procedures or techniques that involve excision of solid tissues or organs, and where complete excision is explicit or can be inferred.
Procedure May Have Completely Excised Anatomy
A role used to assert a relationship between a surgical procedure and its target anatomy, specifically that a particular procedure always is intended for the complete excision of the target anatomy. This role is applicable to procedures or techniques that involve excision of solid tissues or organs, and where complete excision is explicit or can be inferred.
Procedure Has Completely Excised Anatomy
A role used to assert that a procedure or technical method detects, diagnoses, or treats a specified disease state.
A role used to indicate that an anatomic structure has a physical association with a broader system or organ.
A role used to specify the disease stage of a disease, the extent to which a cancer has spread from the original site to other parts of the body.
A gene can be used to diagnose a disease.
At the cellular and molecular level, drugs can target mutated gene sites.
Symptoms associated with this disease can be relieved by taking certain drug.
The combined effect of two or more drugs in clinic
Two or more drugs will be used together to improve the clinical effects
When drugs are used together, the effects are weakened or disappeared. In most cases, it is not suitable to use them in pairs.
Genetic Variation Results In Abnormality
A relation that holds between a disease or an organism and a phenotype
A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
A cancer that is classified based on the organ it starts in.
A cancer that is classified by the type of cell from which it is derived.
A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.
A nervous system cancer that is located in the sensory system.
An organ system cancer that is located_in the skin, hair and nails.
A gastrointestinal system disease that is located_in the gallbladder.
A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia.
atypical spitz nevus
spitzoid melanoma
A skin melanoma that arises from a congenital melanocytic nevus.
Malignant melanoma in congenital melanocytic nevus
melanocytic nevi
melanoma in congenital melanocytic nevus
A gastrointestinal system cancer that is located_in the hepatobiliary system.
hepatobiliary system cancer
A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
nodular melanoma
skin amelanotic malignant melanoma
A gastrointestinal system cancer that is located_in the intestine.
malignant intestinal tumors
malignant neoplasm of intestine
Choroidal tumor
choroid neoplasm
malignant tumor of choroid
malignant tumor of the Choroid
neoplasm of choroid
melanoma of scrotum
A large intestine cancer that is located_in the anus.
anal cancer
malignant anal tumor
anal melanoma
malignant melanoma of anus
melanoma of the Spinal Cord
A disease that is characterized by abnormally rapid cell division.
cell process disease
neoplasm
A disease of anatomical entity that is located_in reproductive system organs.
genital system disease
A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
malignant neoplasm
malignant tumor
primary cancer
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.
Naevocarcinoma
malignant melanoma
An organ system cancer that is manifested in the reproductive organs.
Reproductive tumor
malignant reproductive system neoplasm
cancer of reproductive system
malignant melanoma of rectum
melanoma of rectum
A colorectal cancer that is located_in the rectum.
carcinoma of rectum
carcinoma of the rectum
malignant Rectal tumor
malignant neoplasm of rectum
malignant rectum tumor
malignant tumor of rectum
rectal cancer
cancer of rectum
A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
Ocular tumor
eye neoplasm
malignant eye neoplasm
neoplasm of eye
neoplasm of eye proper
An organ system cancer located_in the nervous system that affects the central or peripheral nervous system.
malignant neoplasm of nervous system
neoplasm of nervous system
nervous system neoplasm
neural neoplasm
neural tumor
tumor of the nervous system
An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
GI tumor
digestive system cancer
gastrointestinal tract cancer
A biliary tract cancer that is located_in the gallbladder.
gallbladder Ca
gallbladder neoplasm
localized malignant gallbladder neoplasm
malignant neoplasm of gallbladder
malignant tumor of the gallbladder
malignant tumour of gallbladder
tumor of the gallbladder
Nontraumatic tear of anus
Solitary anal ulcer
Ulcer of anus
anal disease
anal fissure
anal fissure and fistula
anal ulcer
fissure in ano
A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles.
Spitzoid malignant melanoma
spindle cell malignant melanoma
spindle cell melanoma
desmoplastic melanoma
myelopathy
A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
malignant neoplasm of the Iris
malignant tumor of iris
tumor of the Iris
An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes.
Uveal tumor
malignant Uveal tumor
malignant uvea neoplasm
An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid.
A nervous system cancer that is located_in the central nervous system.
CNS neoplasm
central nervous system tumor
central nervous system tumors
malignant neoplasm of central nervous system
malignant tumor of CNS
neoplasm of central nervous system
An integumentary system disease that is located_in skin.
Genodermatosis
skin and subcutaneous tissue disease
A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum.
male genital cancer
male reproductive system neoplasm
malignant neoplasm of male genital organ
malignant neoplasm of male genital organ or tract
malignant neoplasm of male genital organs
malignant tumor of male Reproductive system
malignant tumor of male genital organ
neoplasm of male genital organ
tumor of male Reproductive system
male genital neoplasm
A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
CA - skin cancer
malignant neoplasm of skin
melanoma and Non-melanoma skin cancer
cancer of skin
malignant neoplasm of ciliary body
malignant tumor of ciliary body
malignant tumor of the Ciliary body
neoplasm of ciliary body
tumor of the Ciliary body
Amelanotic melanoma
epithelioid melanoma
A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.
malignant tumour of biliary tract
A reproductive system disease that affects male reproductive organs.
Scrotal Ca
Scrotal tumor
malignant Scrotal neoplasm
malignant tumor of scrotum
malignant tumour of scrotum
neoplasm of scrotum
scrotum cancer
A gastrointestinal system disease that is located_in the intestine.
A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer).
Intraspinal tumor
malignant tumor of the Spinal Cord
spinal cord cancer
spinal cord neoplasm
tumor of the Spinal Cord
spinal neoplasm
An eye and adnexa disease that is located_in the eye.
An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other.
A uveal cancer that has_material_basis_in uvea pigment cells.
melanoma of Uvea
Xref MGI. OMIM mapping confirmed by DO. [SN].
A malignant choroid melanoma that is located_in the choroid.
spindle cell melanoma of the Choroid
A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles.
spindle cell melanoma of the Ciliary body
A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes.
acral lentiginous melanoma, malignant
malignant acral lentiginous melanoma
malignant melanoma of choroid
melanoma of the Choroid
medium/large size posterior uveal melanoma
small size posterior uveal melanoma
malignant melanoma of iris
melanoma of the Iris
A disease that manifests in a defined anatomical structure.
Choroidal epithelioid cell melanoma
A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris.
A disease of anatomical entity that is located_in the gastrointestinal tract.
GIT disease
Gastroenteropathy
alimentary system disease
digestive system disorder
gastrointestinal disease
gastrointestinal disorder
necrotic Choroid melanoma
An uveal melanoma characterized by the presence of tumor cell necrosis.
malignant melanoma of gallbladder
A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
A skin cancer that has_material_basis_in melanocytes.
cutaneous melanoma
malignant ear melanoma
malignant lip melanoma
malignant lower limb melanoma
malignant melanoma of ear and/or external auricular canal
malignant melanoma of skin of lower limb
malignant melanoma of skin of trunk except scrotum
malignant melanoma of skin of upper limb
malignant neck melanoma
malignant scalp melanoma
malignant trunk melanoma
malignant upper limb melanoma
Xref MGI. OMIM mapping confirmed by DO. [LS].
A large intestine cancer that is located_in the colon and/or located_in the rectum.
Organ with organ cavity which is connected to the optic nerve. Examples: There are only two eyeballs, the right and the left eyeballs..
Cardinal organ part which is bounded predominantly by bonafide boundaries. Examples: lobe of lung, osteon, acinus, submucosa, anterior leaflet of mitral valve, capsule of kidney, cortical bone, muscle fasciculus.
Organ with organ cavity which is continuous proximally with the rectum and distally terminates with the anus. Examples: There is only one anal canal.
Subdivision of respiratory system which consists of the nose, nasopharynx, oropharynx and larynx
Anatomical structure, which has as its parts a heterogeneous collection of organs, organ parts, cells, cell parts or body part subdivisions that are adjacent to, or continuous with one another; does not constitute a cell part, cell, tissue, organ, organ system or organ system subdivision, cardinal body part, body part subdivision or anatomical junction. Examples: joint, adnexa of uterus, root of lung, renal pedicle, back.
Solid organ which consists of organ parts that are arranged as fascicles or sheets. Examples: muscle (organ), ligament (organ), membrane (organ), skin, viscerocranial mucosa.
Cavitated organ in which its unshared parts surround one continuous anatomical space. Examples: stomach, urinary bladder, esophagus, uterine tube.
Immaterial anatomical entity which has three spatial dimensions. Examples: celom, thoracic cavity, lesser sac of peritoneum, cavity of right atrium, lumen of aorta, mediastinal space, space of anterior compartment of forearm, intervertebral foramen space.
Mucous membrane of pharyngotympanic tube
Mucuous membrane of pharyngotympanic tube
Anatomical entity which has three or fewer spatial dimensions. Examples: hemoglobin molecule, mitochondrion, hepatocyte, erythrocyte, heart, head, blood, urine, peritoneal cavity, diaphragmatic surface of heart, inferior margin of liver, apex of lung.
Organismal continuant entity which is enclosed by the bona fide boundary of an organism or is an attribute of its structural organization. Examples: cell, heart, head, peritoneal cavity, apex of lung, anatomical term, sagittal plane.
Material anatomical entity which is generated by coordinated expression of the organism's own genes that guide its morphogenesis; has inherent 3D shape; its parts are connected and spatially related to one another in patterns determined by coordinated gene expression. Examples: heart, right ventricle, mitral valve, myocardium, endothelium, lymphocyte, fibroblast, thorax, cardiovascular system, hemoglobin, T cell receptor.
Anatomical structure which has as its direct parts portions of two or more types of tissue or two or more types of cardinal organ part which constitute a maximally connected anatomical structure demarcated predominantly by a bona fide anatomical surface. Examples: femur, biceps, liver, heart, skin, tracheobronchial tree, ovary.
Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum.
Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina.
Organ with organ cavity which is continuous superiorly with the pharynx and inferiorly with the stomach. Examples: There is only one esophagus.
Organ with organ cavity which is continuous proximally with the esophagus and distally with the small intestine. Examples: There is only one stomach.
Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the cervical vertebral coumn, it is partially surrounded by skin of neck. Examples: There is only one neck.
Nonparenchymatous organ that consists of the epidermis, dermis and sets of hair and nails and which surrounds the entire body. Subdivisions of the skin surround various body parts; as a whole, the skin constitutes the external layer of the body. Examples: There is only one skin.
Organ with organ cavity which is continuous proximally with the stomach and distally with the large intestine. Examples: There is only one small intestine.
Organ with organ cavity which is continuous proximally with the small intestine and distally with the anal canal. Examples: There is only large intestine.
anatomical structure which has as its direct parts two or more types of tissue and is continuous with one or more anatomical structures likewise constituted by two or more portions of tissues distinct from those of their complement. Examples: osteon, cortical bone, neck of femur, bronchopulmonary segment, left lobe of liver, anterior right side of heart, interventricular branch of left coronary artery, right atrium, mitral valve, head of pancreas.
Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper. Examples: There is only one thorax.
Subdivision of trunk proper, 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 back of abdomen by the external surface of the posterior abdominal wall, from the perineum by the superior surface of the urogenital diaphragm and from the lower limbs by the inguinal folds; together with the thorax, and perineum, it constitutes the trunk proper. Examples: There is only one abdomen.
Subdivision of the hand demarcated from the hand proper by the skin crease in line with the distal edge of finger webs. Examples: thumb, right middle finger, left little finger.
This is the root of the phenotypic abnormality subontology of the HPO.
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
Abnormality of eyesight (visual perception).
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation.
Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source.
Lack of sharpness of vision resulting in the inability to see fine detail.
This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible.
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes.
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime.
Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).
Any abnormality of the cardiovascular system.
Abnormality of the cardiovascular system
The cardiovascular system consists of the heart, vasculature, and the lymphatic system.
Reduced ability to pass air through the nasal cavity often leading to mouth breathing.
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted.
This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).
Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm.
An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Coughing up blood or blood-stained mucus
Hemorrhage affecting the gastrointestinal tract.
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis.
A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole.
Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.
The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.
Between 4% and 6% of these lesions will develop into a malignant melanoma.
Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
An abnormality of the gastrointestinal tract.
Abnormality of the gastrointestinal tract
The presence of hemorrhage within the body.
Any morphological abnormality of the skin.
Vascular abnormalities restricted to skin
An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Abnormal structure of the gastrointestinal tract.
Morphological abnormality of the GI tract
Morphological anomaly of the digestive system
Morphological abnormality of the gastrointestinal tract
Abnormal functionality of the gastrointestinal tract.
Functional abnormality of the gastrointestinal tract
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). There is agreement that an actue cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks.
Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus.
Abnormality of the digestive system
A functional anomaly of the digestive system.
Abnormality of digestive system physiology
Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation).
A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.
Mild constriction of peripheral visual field
Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.
Moderate constriction of peripheral visual field
Peripheral visual field constriction with 10-19 degrees central field preserved.
Severe constriction of peripheral visual field
Peripheral visual field constriction with <10 degrees central field preserved.
Very severe peripheral visual field loss
Very severe constriction of peripheral visual field
Abnormal best corrected visual acuity test
Visual acuity light perception with projection
Visual acuity light perception without projection
A purpuric lesion that is larger than 1 cm in diameter.
Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation).
A visual acuity of 6/6 signifies that a person can see symbols such as those on a Snellen chart from six meters the same as a person with normal eyesight. A visual acuity of 6/12 signifies that the person can see symbols at 6 meters the same as a person with normal eyesight could at 12 meters.
A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).
Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).
Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).
Ultra-low vision with retained motion projection
Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.
Ultra-low vision with retained light projection
Ultra-low vision but with retained ability to perceive the difference between light and dark.
Ultra-low vision with retained light perception
Ultra-low vision with complete lack of light and form perception.
Ultra-low vision with no light perception
A surgical procedure in which the axillary lymph node group is dissected and removed without prior removal and examination of the sentinel lymph node.
Axillary Lymph Node Dissection without Prior Sentinel Lymph Node Biopsy
A change in the valine at position 600 of the serine/threonine-protein kinase B-raf protein to another amino acid.
Serine/Threonine-Protein Kinase B-raf Protein V600 Mutation
Serine/Threonine-Protein Kinase B-raf Protein V600 Protein Variation
Serine/Threonine-Protein Kinase B-raf Protein V600X
Serine/Threonine-Protein Kinase B-raf Protein Val600 Mutation
Serine/Threonine-Protein Kinase B-raf Protein Val600Xxx
Any radiation treatment done with the intent to relieve symptoms and reduce the suffering caused by the cancer, and not with the intent of curing the cancer.
Any treatment modality that exercises its effects by inducing, enhancing, or suppressing an immune response.
Dissection of the lymph nodes that surround the thyroid gland.
Systemic chemotherapy with a multiple agent regimen. All routes of administration are acceptable as long as the regimen is intended for systemic therapy.
Systemic chemotherapy with a regimen containing multiple agents.
A staging procedure consisting of sentinel node biopsy followed by surgical evaluation of the axillary lymph nodes.
Sentinel Lymph Node Biopsy Followed by Axillary Lymph Node Biopsy
Sentinel node biopsy followed by surgical evaluation of axilla
Lymph node dissection of at least 6 axillary lymph nodes.
A monoclonal antibody directed against programmed cell death protein 1 (PD-1; PD1; CD279).
Any agent that has a biological nature, such as agents containing living organisms, derived from living organisms, or comprised of ex vivo synthesized analogs of substances derived from living organisms, and that exerts antineoplastic activity.
Any agent that specifically inhibits a particular enzyme that is overexpressed and/or mutated in cancer cell pathways. Antineoplastic enzyme inhibitors specifically target tumor cells by targeting enzymes that are not normally expressed or are minimally expressed in normal, healthy tissues.
Surgical removal of an entire visible lesion, with no obvious lesion detected on post-operative evaluation; microscopic residual disease may be present.
A surgical procedure in which a single or multiple para-aortic lymph nodes are removed for microscopic examination.
A change in the nucleotide sequence in a RAF family gene.
Removal or sampling of lymph nodes in the mediastinum.
Removal or sampling of lymph nodes in the supraclavicular area.
A surgical procedure in which all or most all of the lymph nodes are removed from the mediastinum.
A surgical procedure in which a single or multiple mediastinal lymph nodes are removed for microscopic examination.
Any substance that inhibits protein kinase, an enzyme that catalyzes the addition of a phosphate group to a protein and is active in many diverse signaling pathways.
Surgical treatment undertaken after failure of initial surgery or failure of other modalities.
A minimally invasive procedure in which high dose chemotherapy is delivered directly to the liver via a catheter placed in the hepatic artery, and the effluent blood returning through the hepatic veins is filtered via an extracorporeal system before being returned through a sheath in the internal jugular vein.
A surgical procedure in which all the bilateral cervical lymph node groups of the neck are removed but the internal jugular veins, sternocleidomastoid muscles, and/or spinal accessory nerves are preserved.
Bilateral Modified Radical Neck Dissection
The removal of tissue specimens or fluid from the living body for microscopic examination, performed to establish a diagnosis.
The removal of cells or tissues for examination by a pathologist. The pathologist may study the tissue under a microscope or perform other tests on the cells or tissue. There are many different types of biopsy procedures. The most common types include: (1) incisional biopsy, in which only a sample of tissue is removed; (2) excisional biopsy, in which an entire lump or suspicious area is removed; and (3) needle biopsy, in which a sample of tissue or fluid is removed with a needle.
The removal of a tissue sample using a needle, for microscopic examination.
The removal of tissue or fluid with a needle for examination under a microscope. When a wide needle is used, the procedure is called a core biopsy. When a thin needle is used, the procedure is called a fine-needle aspiration biopsy.
The investigation, analysis and recognition of the presence and nature of disease, condition, or injury from expressed signs and symptoms; also, the scientific determination of any kind; the concise results of such an investigation.
The investigation, analysis and recognition of the presence and nature of disease, condition, or injury from expressed signs and symptoms; also, the scientific determination of any kind; the concise results or summary of such an investigation. (NCI)
The process of identifying a disease, such as cancer, from its signs and symptoms.
The act of cutting out; the surgical removal of part or all of a structure or organ.
The act of cutting out; the surgical removal of part or all of a structure or organ. (NCI)
Therapy designed to induce changes in a patient's immune status in order to treat disease.
A therapy designed to induce changes in a patient's immune status.
Treatment to boost or restore the ability of the immune system to fight cancer, infections, and other diseases. Also used to lessen certain side effects that may be caused by some cancer treatments. Agents used in immunotherapy include monoclonal antibodies, growth factors, and vaccines. These agents may also have a direct antitumor effect.
The concept encompasses various treatment modalities including active and passive immunization, treatment with immunopotentiators, immunosuppressants and nonspecific systemic immunostimulators and adjuvants, desensitization to any allergens, bone marrow transplantation, thymus implantation.
Surgical removal of lymph nodes, usually done to assess the spread of cancer.
A surgical procedure in which the lymph nodes are removed and a sample of tissue is checked under a microscope for signs of cancer. For a regional lymphadenectomy, some of the lymph nodes in the tumor area are removed; for a radical lymphadenectomy, most or all of the lymph nodes in the tumor area are removed.
The process of flooding fluid through the artery to saturate the surrounding tissue. In regional perfusion, a specific area of the body (usually an arm or a leg) is targeted and high doses of anticancer drugs are flooded through the artery to reach the surrounding tissue and kill as many cancer cells as possible. Such a procedure is performed in cases where the cancer is not thought to have spread past a localized area.
Bathing an organ or tissue with a fluid. In regional perfusion, a specific area of the body (usually an arm or a leg) receives high doses of anticancer drugs through a blood vessel. Such a procedure is performed to treat cancer that has not spread.
The delivery of chemotherapy to a specific tissue area that is excluded from the general circulation during the period of infusion, which allows for a high concentration of the drug in the tumour area as well as sparing of the rest of the body from the side effects of the drug.
Treatment of a disease by means of exposure of the target or the whole body to radiation. Radiation therapy is often used as part of curative therapy and occasionally as a component of palliative treatment for cancer. Other uses include total body irradiation prior to transplantation.
The use of high-energy radiation from x-rays, gamma rays, neutrons, protons, and other sources to kill cancer cells and shrink tumors. Radiation may come from a machine outside the body (external-beam radiation therapy), or it may come from radioactive material placed in the body near cancer cells (internal radiation therapy). Systemic radiation therapy uses a radioactive substance, such as a radiolabeled monoclonal antibody, that travels in the blood to tissues throughout the body.
Treatment of a disease by means of exposure of the target or the whole body to radiation.
A diagnostic or treatment procedure performed by manual and/or instrumental means, often involving an incision and the removal or replacement of a diseased organ or tissue; of or relating to or involving or used in surgery or requiring or amenable to treatment by surgery.
A procedure to remove or repair a part of the body or to find out whether disease is present. An operation.
Treatment with a radioactive substance that is linked to an antibody so that it will attach to a tumor when injected into the body.
The use of radiolabeled monoclonal antibodies to treat diseases, including cancer. The radiolabeled monoclonal antibody locates and binds to substances in the body, including cancer cells. Radiation given off by the radioisotope may help kill the cancer cells.
A surgical procedure in which an entire lesion is removed for microscopic examination.
A surgical procedure in which an entire lump or suspicious area is removed for diagnosis. The tissue is then examined under a microscope.
A surgical procedure in which part of a lesion is removed for microscopic examination.
A procedure in which a surgical incision (cut) is made through the skin to expose and remove tissues. The biopsy tissue is examined under a microscope by a pathologist. An open biopsy may be done in the doctor's office or in the hospital, and may use local anesthesia or general anesthesia. A lumpectomy to remove a breast tumor is a type of open biopsy.
Isolated Chemotherapeutic Limb Perfusion
A procedure used to deliver anticancer drugs directly to an arm or leg but not to the rest of the body. The flow of blood to and from the limb is temporarily stopped with a tourniquet (a tight band around the limb). Catheters (small, flexible tubes) attached to a pump are put into an artery and a vein in the limb so that blood can be circulated through the pump into the limb. Anticancer drugs are injected into the catheters. Wrapping the limb in a heated blanket or warming the drugs or blood may help the drugs work better.
Use of techniques, biologically active substances, and procedures to enhance or restore the ability of the host immune system to fight cancer. Also used to lessen adverse effects that may be caused by some cancer treatments.
Any agent that inhibits the serine/threonine-protein kinase BRAF(B-RAF).
The administration of pharmaceutical agents directly into the abdominal or peritoneal cavity. This technique is widely utilized for the chemotherapeutic treatment of advanced ovarian cancer.
Treatment in which anticancer drugs are put directly into the abdominal cavity through a thin tube.
A diagnosis made from a study of the signs and symptoms of a disease.
The use of synthetic or naturally-occurring chemicals for the treatment of diseases.
Non-systemic chemotherapy treatment (e.g., intra-peritoneal, intra-cavitary, intra-thecal), or chemotherapy not described by Chemotherapy Single Agent Systemic or Multi-Agent Systemic.
Although this term is used to describe any therapy involving the use of chemical-based agents, it is particularly used to refer to the use of chemical-based agents to treat cancer. Antineoplastic chemotherapy works by arresting or killing the growth and spread of cancer cells. Chemotherapy may also include agents that enhance immune function or alter hormonal activity.
Surgery to remove lymph nodes and other tissues in the neck.
Surgical removal and examination of the sentinel node, the lymph node which is first in receiving the lymphatic drainage of a specified anatomic location and is most likely to be affected by the lymphatic spread of cancer.
Removal and examination of the sentinel node(s) (the first lymph node(s) to which cancer cells are likely to spread from a primary tumor). To identify the sentinel lymph node(s), the surgeon injects a radioactive substance, blue dye, or both near the tumor. The surgeon then uses a probe to find the sentinel lymph node(s) containing the radioactive substance or looks for the lymph node(s) stained with dye. The surgeon then removes the sentinel node(s) to check for the presence of cancer cells.
Surgical removal of the lymph nodes located in the cavity beneath the junction of the arm and the thorax, or axilla (armpit). This procedure is commonly performed as a component of cancer staging.
Surgery to remove lymph nodes found in the armpit region.
A procedure in which a warmed solution containing anticancer drugs is used to bathe, or is passed through the blood vessels of, the tissue or organ containing the tumor.
Isolated Chemotherapeutic Hepatic Perfusion
A procedure in which a catheter is placed into the artery that provides blood to the liver; another catheter is placed into the vein that takes blood away from the liver. This temporarily separates the liver's blood supply from blood circulating throughout the rest of the body and allows high doses of anticancer drugs to be directed to the liver only.
Any therapeutic procedure that targets, or is restricted to, a specific anatomical location.
Treatment that affects cells in the tumor and the area close to it.
A method of delivering fluids and drugs directly to tumors in the peritoneal cavity.
Continuous Chemotherapeutic Hyperthermic Peritoneal Perfusion
A procedure that bathes the abdominal cavity in fluid that contains anticancer drugs. This fluid is warmer than body temperature. This procedure appears to kill cancer cells without harming normal cells.
continuous hyperthermic peritoneal perfusion
Treatment in which anticancer drugs are injected into the fluid-filled space between the thin layers of tissue that cover the brain and spinal cord.
Radiation therapy in which high-energy beams are delivered to the tumor from outside of the body.
A type of radiation therapy in which high-energy beams are delivered to the tumor from outside of the body.
A type of radiation therapy that uses a machine to aim high-energy rays at the cancer from outside of the body.
Systemic chemotherapy with a single agent regimen. All routes of administration are acceptable as long as the agent is intended for systemic therapy.
Systemic chemotherapy with a single agent regimen.
The act of discovery of a malignant neoplasm, and after treatment, the discovery of minimal residual disease.
The discovery of a tumor or cancer after primary, potentially curative therapy.
Medications that are applied to the skin for melanoma.
Medications that are applied to the skin for non-melanoma lesions.
Radiotherapy using radioactive particles that deposit a low amount of energy by radiation per unit length of travel.
A procedure that includes screening, diet and behavioral adjustments to prevent and/or detect the transformation of normal cells into cancerous lesions.
Prevention, Early Detection of Premalignant Lesions
A molecular genetic abnormality indicating the presence of a mutation in exon 15 of the BRAF gene.
v-raf Murine Sarcoma Viral Oncogene Homolog B1 Exon 15 Mutation
A form of chemotherapy in which the drug(s) are placed into a specific location, including a body cavity or individual organ, for the purpose of killing cancer cells whilst minimizing systemic toxicity.
Treatment with anticancer drugs directed to a specific area of the body.
Treatment with anticancer drugs in a lotion or cream applied to the skin.
Surgical removal of the inguinal, iliac, and obturator lymph nodes.
Chemical Cancer Immunotherapy is the use of chemical substances to alter the interaction between the host's immune defenses and cancer cells to boost, direct, or restore the body's ability to fight cancer.
Treatment of disease through the use of drugs.
Treatment with any substance, other than food, that is used to prevent, diagnose, treat, or relieve symptoms of a disease or abnormal condition.
Methods of detection which do not require penetration of the body or body openings.
A surgical technique that uses a specially designed robotic system to aid removal of pelvic lymph nodes after failure of initial surgery or other treatment modalities.
Robot-assisted Salvage Pelvic Lymph Node Dissection
RoboInOwlt-assisted Salvage Pelvic Lymph Node Dissection
A procedure involving irradiation to a specific, limited area of the skin.
A procedure involving irradiation of a specific, limited area of the skin.
A categorization of surgical procedures by type or purpose.
Use of a device, marker, or other means for the purpose of detecting the presence of a tumor early in its development.
The activity of perceiving, discerning, discovering or identifying.
General term for detecting and classifying cancer in patients.
Removal of one or more pelvic lymph nodes from both sides of the body.
A method of feeling with the hands during a physical examination. The health care provider touches and feels the patient's body to examine the size, consistency, texture, location and tenderness of an organ or body part.
Examination by pressing on the surface of the body to feel the organs or tissues underneath.
Any procedure or test to diagnose a disease or disorder.
A specific test or series of steps done to help diagnose a disease or condition. Mammograms and colonscopies are examples of diagnostic procedures.
Other diagnostic procedures on rectum, rectosigmoid and perirectal tissue
Any natural, endogenously-derived, synthetic or semi-synthetic compound with pharmacologic activity. A pharmacologic substance has one or more specific mechanism of action(s) through which it exerts one or more effect(s) on the human or animal body. They can be used to potentially prevent, diagnose, treat or relieve symptoms of a disease. Formulation specific agents and some combination agents are also classified as pharmacologic substances.
An active natural, synthetic or semi-synthetic ingredient including endogenous body substance that is intended to furnish pharmacological activity or other direct effect in the diagnosis, cure, mitigation, treatment, or prevention of disease or to affect the structure or any function of the human body, but does not include intermediates used in the synthesis of such ingredient (21 CFR 314.3(b)).
An article other than food intended for use in the diagnosis, cure, mitigation, treatment, or prevention of disease; or intended to affect the structure or any function of the body. EXAMPLE(S): aspirin
Any substance, other than food, that is used to prevent, diagnose, treat or relieve symptoms of a disease or abnormal condition. Also refers to a substance that alters mood or body function, or that can be habit-forming or addictive, especially a narcotic.
Article other than food intended for use in the diagnosis, cure, mitigation, treatment, or prevention of disease; or intended to affect the structure or any function of the body. not a device or a component, part, or accessory of a device. [from FDA Glossary of Terms, CDER] See also medicinal product, active substance.
This category represents ingredients, not drug products.
Treatment using more than one anticancer drug.
An antibody produced by a clone or genetically homogenous fast-growing cells i.e., hybridoma. Hybridoma cells are cloned to establish cell lines producing a specific antibody that is chemically and immunologically homogeneous. They are widely used in cancer detection, diagnosis, and treatment.
A type of protein made in the laboratory that can bind to substances in the body, including tumor cells. There are many kinds of monoclonal antibodies. Each monoclonal antibody is made to find one substance. Monoclonal antibodies are being used to treat some types of cancer and are being studied in the treatment of other types. They can be used alone or to carry drugs, toxins, or radioactive materials directly to a tumor.
Use of a device, marker, or other means for the purpose of detecting the presence of a breast tumor early in its development.
A systemic evaluation of the body and its functions using visual inspection, palpation, percussion and auscultation. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment.
A systemic evaluation of the body and its functions using visual inspection, palpation, percussion and auscultation.
An exam of the body to check for general signs of disease.
An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects.
In medicine, a treatment or action taken to prevent or treat disease, or improve health in other ways.
The drug, device, therapy, or process under investigation in a clinical study that is believed to have an effect on outcomes of interest in a study (e.g., health-related quality of life, efficacy, safety, pharmacoeconomics). See also test articles, devices, drug product, medicinal product, combination product, general observation class, finding, event.
A substance that inhibits the maturation, growth or spread of tumor cells.
Chemotherapeutic Agents, Neoplastic Disease
Biotechnology-derived pharmaceutical agents made from living organisms or their products. Includes recombinant proteins, monoclonal antibodies, and nucleic acids.
A class of pharmaceutical agents made from living organisms or their products that includes recombinant proteins, antibodies, and nucleic acids.
A substance made from living organisms or things they produce, for example: virus, therapeutic serum, toxin, antitoxin, vaccine, blood, blood component or derivative, allergenic product, or analogous product.
A substance made from living organisms or things they produce. EXAMPLE(S): virus, therapeutic serum, toxin, antitoxin, vaccine, blood, blood component or derivative, allergenic product, analogous product
A substance that is made from a living organism or its products and is used in the prevention, diagnosis, or treatment of cancer and other diseases. Biological agents include antibodies, interleukins, and vaccines.
Any substance that induces, enhances, restores or suppresses the host's immune system, or an agent that utilizes or is derived from a component of the immune system.
A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease.
Any alteration in the inherited nucleic acid sequence of the genotype of an organism.
A molecular or cytogenic abnormality which occurs in either human disease states or disease models.
Chromosomal, Gene, or Protein Abnormality
Cytogenetic or Molecular Genetic Abnormality
A change in the nucleotide sequence of the BRAF gene.
v-raf Murine Sarcoma Viral Oncogene Homolog B1 Gene Mutation
Checkup is a general examination or inspection, especially one carried out by a doctor or dentist.
A pharmacological agent that inhibits the catalytic activity of an enzyme.
A surgical procedure in which the sentinel node is removed followed by dissection and removal of the axillary node group.
Sentinel Lymph Node Biopsy with Axillary Lymph Node Dissection
Axillary Lymph Node Dissection with Prior Sentinel Lymph Node Biopsy
The surgical removal of retroperitoneal lymph nodes from the abdominal cavity. The surgery is a therapeutic treatment for testicular cancer, performed after (orchiectomy) or testicular removal. The surgery is recommended for men who are at an increased risk of metastasis, or who decline other treatment options such as radiation or chemotherapy.
Surgical removal of the lymph nodes located in a particular anatomic region. This procedure is commonly performed as a component of cancer staging.
A surgical procedure to remove some of the lymph nodes that drain lymph from the area around a tumor. The lymph nodes are then examined under a microscope to see if cancer cells have spread to them.
The surgical removal of all or part of the lymph nodes that drain lymph from the area around a tumor.
A surgical procedure to remove most or all of the lymph nodes that drain lymph from the area around a tumor. The lymph nodes are then examined under a microscope to see if cancer cells have spread to them.
A categorization of surgical procedures based on surgical techniques.
An action or administration of therapeutic agents to produce an effect that is intended to alter or stop a pathologic process.
Removal of conjunctival tissue for microscopic examination.
Removal of tissue from the pharyngeal tonsil for microscopic examination.
Surgical removal of one or more inguinal lymph nodes.
Surgical removal of multiple adjacent, frequently adherent, inguinal lymph nodes.
Block Dissection of Inguinal Lymph Nodes
Removal of tissue from the breast for microscopic examination, involving surgical excision of a portion of the breast.
A surgical procedure in which a single or multiple lymph nodes are removed for microscopic examination.
Removal of tissue from the larynx for microscopic examination.
A surgical procedure in which all the ipsilateral cervical lymph node groups of the neck, internal jugular vein, sternocleidomastoid muscle, spinal accessory nerve, and submandibular gland are removed.
Removal of tissue from the nasopharynx for microscopic examination.
A surgical procedure in which the fibrofatty contents of the neck are removed in patients with clinically negative nodal disease in which there is a high risk of occult metastases.
Selective Neck Dissection of Cervical Lymph Nodes
Surgical removal of one or more pelvic lymph nodes.
Surgery to remove lymph nodes in the pelvis for examination under a microscope to see if they contain cancer.
A test in which a lymph node or a piece of a lymph node is removed for examination under a microscope for signs of infection or disease such as cancer.
A surgical procedure in which all the ipsilateral cervical lymph node groups of the neck are removed but the internal jugular vein, sternocleidomastoid muscle, and/or spinal accessory nerve are preserved.
Removal of mucosal tissue for microscopic examination.
Radiation therapy that is administered subsequent to the main treatment plan to minimize or prevent disease recurrence.
Surgical removal of tissues from the lymph nodes located in the cavity beneath the junction of the arm and the thorax (armpit) so that a biopsy can be performed.
Chemotherapy where the agent travels throughout the body by blood circulation.
Treatment with anticancer drugs that travel through the blood to cells all over the body.
An orally bioavailable, ATP-competitive, small-molecule inhibitor of BRAF(V600E) kinase with potential antineoplastic activity. Vemurafenib selectively binds to the ATP-binding site of BRAF(V600E) kinase and inhibits its activity, which may result in an inhibition of an over-activated MAPK signaling pathway downstream in BRAF(V600E) kinase-expressing tumor cells and a reduction in tumor cell proliferation. Approximately 90% of BRAF gene mutations involve a valine-to-glutamic acid mutation at residue 600 (V600E); the oncogene protein product, BRAF(V600E) kinase, exhibits a markedly elevated activity that over-activates the MAPK signaling pathway. The BRAF(V600E) gene mutation has been found to occur in approximately 60% of melanomas, and in about 8% of all solid tumors, including melanoma, colorectal, thyroid and other cancers.
A substance being studied in the treatment of cancer. BRAF (V600E) kinase is a mutated (changed) form of a cell protein called BRAF. It is found in several types of cancer, including melanoma (a type of skin cancer). Inhibiting this kinase may cause cancer cells to die. BRAF (V600E) kinase is a type of serine/threonine kinase inhibitor and a type of targeted therapy agent.
1-propanesulfonamide, n-(3-((5-(4-chlorophenyl)-1h-pyrrolo(2,3-b)pyridin-3-yl)carbonyl)-2,4-difluorophenyl)-
A therapeutic procedure performed by manual and/or instrumental means, generally involving an incision and the removal or replacement of a diseased organ or tissue.
A fully human immunoglobulin (Ig) G4 monoclonal antibody directed against the negative immunoregulatory human cell surface receptor programmed death-1 (PD-1, PCD-1) with immune checkpoint inhibitory and antineoplastic activities. Upon administration, nivolumab binds to and blocks the activation of PD-1, an immunoglobulin superfamily (IgSF) transmembrane protein, by its ligands programmed cell death ligand 1 (PD-L1), which is overexpressed on certain cancer cells, and programmed cell death ligand 2 (PD-L2), which is primarily expressed on antigen-presenting cells (APCs). This results in the activation of T-cells and cell-mediated immune responses against tumor cells. Activated PD-1 negatively regulates T-cell activation and plays a key role in tumor evasion from host immunity.
locally advanced or metastatic urothelial carcinoma; recurrent or metastatic squamous cell carcinoma of the head and neck (SCCHN); renal cell carcinoma (RCC) ; metastatic melanoma; non-small cell lung cancer (NSCLC); classical Hodgkin lymphoma (cHL); BRAF V600 wild-type, unresectable or metastatic melanoma; metastatic small cell lung cancer (SCLC) with progression after platinum-based chemotherapy and at least one other line of therapy.
An orally bioavailable small-molecule inhibitor of mitogen-activated protein kinase kinase 1 (MAP2K1 or MEK1), with potential antineoplastic activity. Cobimetinib specifically binds to and inhibits the catalytic activity of MEK1, resulting in inhibition of extracellular signal-related kinase 2 (ERK2) phosphorylation and activation and decreased tumor cell proliferation. Preclinical studies have demonstrated that this agent is effective in inhibiting the growth of tumor cells bearing a B-RAF mutation, which has been found to be associated with many tumor types. A threonine-tyrosine kinase and a key component of the RAS/RAF/MEK/ERK signaling pathway that is frequently activated in human tumors, MEK1 is required for the transmission of growth-promoting signals from numerous receptor tyrosine kinases.
unresectable or metastatic melanoma with BRAF V600E or V600K mutation
Any substance that inhibits mitogen-activated protein kinase kinase (MEK), an enzyme that catalyzes the addition of a phosphate group to a mitogen-activated protein kinase. Inhibition of mitogen-activated protein kinase kinase results in the inhibition of cell proliferation.
Mitogen-Activated Protein Kinase Kinase Inhibitor
The surgical removal of superficial inguinal lymph nodes and deep femoral lymph nodes.
This surgery is used in the treatment of vulvar cancers.
An orally bioavailable inhibitor of mitogen-activated protein kinase kinase (MEK MAPK/ERK kinase) with potential antineoplastic activity. Trametinib specifically binds to and inhibits MEK 1 and 2, resulting in an inhibition of growth factor-mediated cell signaling and cellular proliferation in various cancers. MEK 1 and 2, dual specificity threonine/tyrosine kinases often upregulated in various cancer cell types, play a key role in the activation of the RAS/RAF/MEK/ERK signaling pathway that regulates cell growth.
metastatic non-small cell lung cancer (NSCLC) with BRAF V600E mutation; unresectable or metastatic melanoma with BRAF V600E or V600K mutations
An orally bioavailable inhibitor of B-raf (BRAF) protein with potential antineoplastic activity. Dabrafenib selectively binds to and inhibits the activity of B-raf, which may inhibit the proliferation of tumor cells which contain a mutated BRAF gene. B-raf belongs to the raf/mil family of serine/threonine protein kinases and plays a role in regulating the MAP kinase/ERKs signaling pathway, which may be constitutively activated due to BRAF gene mutations.
metastatic non-small cell lung cancer (NSCLC) with BRAF V600E mutation
Benzenesulfonamide, N-(3-(5-(2-amino-4-pyrimidinyl)-2-(1,1-dimethylethyl)-4-thiazolyl)-2-fluorophenyl)-2,6-difluoro-
An orally available inhibitor of mitogen-activated protein kinase kinase 1 and 2 (MEK1/2) with potential antineoplastic activity. Binimetinib, noncompetitive with ATP, binds to and inhibits the activity of MEK1/2. Inhibition of MEK1/2 prevents the activation of MEK1/2 dependent effector proteins and transcription factors, which may result in the inhibition of growth factor-mediated cell signaling. This may eventually lead to an inhibition of tumor cell proliferation and an inhibition in production of various inflammatory cytokines including interleukin-1, -6 and tumor necrosis factor. MEK1/2 are dual-specificity threonine/tyrosine kinases that play key roles in the activation of the RAS/RAF/MEK/ERK pathway and are often upregulated in a variety of tumor cell types.
in combination with encorafenib, for the treatment of patients with unresectable or metastatic melanoma with a BRAF V600E or V600K mutation
Isolated Chemotherapeutic Lung Perfusion
A surgical procedure during which the circulation of blood to the lungs is separated from the circulation of blood through the rest of the body, and a drug is delivered directly into the lung circulation. This allows a higher concentration of chemotherapy to reach tumors in the lungs.
Chemotherapy combined with immunotherapy. Chemotherapy uses different drugs to kill or slow the growth of cancer cells; immunotherapy uses treatments to stimulate or restore the ability of the immune system to fight cancer.
Surgery to remove a tumor and a large amount of normal tissue surrounding it. Nearby lymph nodes may also be removed.
A variation in or modification of the molecular sequence of a gene or gene product.
A variation in the nucleic acid sequence of a specific gene.
A variation in the amino acid sequence of a specific gene product.
An orally available Raf kinase inhibitor with potential antineoplastic activity. Encorafenib specifically inhibits Raf kinase, a serine/threonine enzyme in the RAF/mitogen-activated protein kinase kinase (MEK)/extracellular signal-related kinase (ERK) signaling pathway. By inhibiting the activation of the RAF/MEK/ERK signaling pathway, the administration of LGX818 may result in a decrease in proliferation of tumor cells. The Raf mutation BRAF V600E is frequently upregulated in a variety of human tumors and results in the constitutive activation of the RAF/MEK/ERK signaling pathway that regulates cellular proliferation and survival.
in combination with binimetinib, for the treatment of patients with unresectable or metastatic melanoma with a BRAF V600E or V600K mutation
A variation in the amino acid sequence for the serine/threonine-protein kinase B-raf protein.
Serine/Threonine-Protein Kinase B-raf Protein Variant
a pathological bodily process that occurs after a medical intervention. An adverse event is likely caused by the medical intervention; however, such a causal association is not required to be an adverse event.
Melanie Courtot and YH: More work is needed on how to restrict the scope of a term to be an 'adverse event', notably regarding temporal association. When is an appropirate time interval between a medical intervention and an adverse event observed? One week, one month, one year, or a lifetime? For some well-studied medical interventions (e.g., administration of many vaccines or drugs), we probably have a general idea. For many new interventions, we don't know much. In OAE, this issue is associated with defining the 'adverse event incubation time'.
YH: An adverse event is a process that has specified output of some adverse medical outcome (e.g., symptom, sign or accident) after a medical intervention (or process) (e.g., administration of drug or vaccine). The medical intervention can be an administration of a drug, a vaccine (i.e., vaccination), or a special nutritional product (for example, dietary supplement, infant formula, medical food), surgery, or usage of a medical device.
YH: An adverse event is possibly induced by the medical intervention. It can be caused by the medical intervention, or may not be caused by the medical intervention. One ultimate goal (or the goal in clinics) of study adverse events is to assess if the adverse event outcome is due to the medical intervention.
YH: In development of OAE, we initially use vaccine adverse event as our use case. A vaccine adverse event is associated with a vaccination (i.e. a medical intervention), regardless of whether it is considered vaccine-related, and includes any side effect, injury, toxicity, or sensitivity reaction or significant failure of immunization (i.e., a pharmacologic action). Ref: Baylor NW and Midthum K. Regulation and testing of vaccines. In: Vaccines (Editors: Plotkin S, Orenstein W, and Offit P). 2008. p1623.
YH: The current term 'adverse event' is different from the term definition shown in our paper: He Y, Xiang Z, Sarntivijai S, Toldo L, Ceusters W. OAE: a realism-based biomedical ontology for the representation of adverse events. Adverse Event Representation Workshop, International Conference on Biomedical Ontologies (ICBO), University at Buffalo, NY, July 26-30, 2011. Full lenghth conference proceeding paper. We made the name changing in order to make OAE cover the broader sense of the 'adverse event' which does not assume definite causal effect between an adverse event and a medical intervention. In current definition, the adverse event emphasizes the time association and assumes a likelihood of such a causal association. This term 'adverse event' is stil under the OGMS:pathological bodily process. The 'adverse event' defined in the above paper has now been changed to a new term: 'causal adverse event'. See more information in the new publication: Yongqun He Y, Sirarat Sarntivijai, Yu Lin, Zuoshuang Xiang, Abra Guo, Shelley Zhang, Desikan Jagannathan, Luca Toldo, Cui Tao and Barry Smith. OAE: The Ontology of Adverse Events. Journal of Biomedical Semantics. 2014, 5:29 doi:10.1186/2041-1480-5-29. PMID: 25093068.PMCID: PMC4120740.
YH: The main scope of OAE includes: (1) represent terms and relations in the area of adverse events, (2) assess possible associations between an adverse event and a medical intervention, particularly, identify any causal effect of a medical intervention to an adverse event; and (2) understand the mechanism (including molecular mechanisms) of causal adverse events.
YH: There has been discussion regarding whether the term 'side effect' is an alternative term for 'adverse event'. In AERO, the term 'AERO:adverse event' represents a subset of those adverse events for which causality has been established. In OAE, an adverse event for which causality has been established is called 'causal adverse event'.
WEB: http://en.wikipedia.org/wiki/Adverse_event
WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm
WEB: http://www.ncbi.nlm.nih.gov/pubmed/25093068
The OAE official website is: http://www.oae-ontology.org/.
an adverse event that has an outcome of abnormal sign in a musculoskeletal or connective tissue.
musculoskeletal and connective tissue disorder AE
WEB: http://www.cdc.gov/niosh/programs/msd/
A musculoskeletal disorder is an injury or disorder of the muscles, nerves, tendons, joints, cartilage, or supporting structures of the upper or lower limbs, neck, or lower back that are caused, precipitated, or exacerbated by sudden exertion or prolonged exposure to physical factors such as repetition, force, vibration, or awkward posture
an adverse event which occurs in a metabolism process (including anabolism and catabolism), endocrine system, or exocrine system.
metabolism, endocrine, and exocrine system AE
metabolism, endocrine or exocrine system AE
a cardiovascular disorder AE that has a vascular disorder outcome
A vascular disorder AE that results in the presence of blood clot along the wall of a blood vessel, frequently causing vascular obstruction. Some authorities differentiate thrombus formation from simple coagulation or clot formation.
a metabolism, endocrine, and exocrine system AE that occurs in endocrine system.
an AE that occurs in respiratory system.
I created this term and make it to be an umbrella term for different disorder terms related to respiratory system. --Oliver He
an abnormal vision AE characterised by leakage of fluid under the retina causing visual impairment, usually in one eye.
WEB: http://en.wikipedia.org/wiki/Central_serous_retinopathy
central serous retinopathy AE
a seizure AE that has an outcome of a seizure disorder associated with an elevated temperature
a cardiovascular disorder AE that has an outcome of hemorrhage
WEB: http://medical-dictionary.thefreedictionary.com/hemorrhage
loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels
a respiratory system AE which has an outcome of lung disorder
a musculoskeletal system AE that occurs in muscle.
According to the Vaccine Adverse Event Reporting System (VAERS), 'immune system disorder' was mentioned in 292 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543).
an AE that occurs in cardiovascular system.
a glucose homeostasis AE which has an outcome of diabetes mellitus
Diabetes mellitus, often referred to simply as diabetes, is a syndrome of disordered metabolism, usually due to a combination of hereditary and environmental causes, resulting in abnormally high blood sugar levels (hyperglycemia).
a glucose homeostasis AE which has an outcome of hyperglycemia, which is an abnormally high concentration of glucose in the blood; generally refers to a pathological state
WEB: http://medical-dictionary.thefreedictionary.com/hyperglycemia
an AE that occurs in the homeostasis system.
anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the fluids and tissues
an immune system disorder AE that results in complex biological response of vascular tissues to harmful stimuli, such as pathogens, damaged cells, or irritants. Inflammation is a protective attempt by the organism to remove the injurious stimuli as well as initiate the healing process for the tissue greater than expected response to injury, infection, or insult.
WEB: http://en.wikipedia.org/wiki/Inflammation
an inflammation AE which has an outcome of brain inflammation, which is local accumulation of fluid, plasma proteins, and leukocytes in the brain
According to the Vaccine Adverse Event Reporting System (VAERS), 'encephalitis' is an adverse event that was mentioned in 480 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543).
aa inflammation AE which has an outcome of lung inflammation, a local accumulation of fluid, plasma proteins, and leukocytes in the lung
According to the Vaccine Adverse Event Reporting System (VAERS), 'pneumonia' was mentioned in 879 VAERS reports (0.7%) during1991-2001 (Reference: PMID: 12825543).
an inflammation AE which occurs in the respiratory system, which is reflected with the local accumulation of fluid, plasma proteins, and leukocytes in the respiratory system
an eye disorder AE which has an outcome of abnormal vision, which is an inability or decreased ability to see
a behavior and neurological AE that shows a sudden surge of electrical activity in the brain.
WEB: http://www.healthline.com/symptom/seizures
an adverse event that has an outcome of an abnormal behavior and neurological phenotype.
WEB: http://www.psychguides.com/guides/behavioral-disorder-symptoms-causes-and-effects/
any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls
a homeostasis AE which has an outcome of glucose homeostasis, which is an anomaly in the processes involved in the maintenance of an internal equilibrium of glucose in the fluids and tissues
an adverse event that has an outcome of urinary system AE is a functional anomaly of any of the organs involved in the production or excretion of urine
an inflammation AE that occurs at the large intestine
WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002112/
a lung disorder AE that has an outcome of a disease affecting the interstitium, the tissue and space around the air sacs of the lungs
WEB: http://www.ncbi.nlm.nih.gov/pubmed/23289473
a lung inflammation AE located in the lung tissue
WEB: http://medical-dictionary.thefreedictionary.com/pneumonitis
a muscle adverse event that results in damaged skeletal muscle tissue breaks down rapidly
WEB: http://medical-dictionary.thefreedictionary.com/rhabdomyolysis
eye inflammation AE
a thrombosis that is characterized by a blockage of the small veins that carry blood away from the retina. The retina is the layer of tissue at the back of the inner eye that converts light images to nerve signals and sends them to the brain.
WEB: http://www.nlm.nih.gov/medlineplus/ency/article/007330.htm
retinal vein occlusion AE
Non-insulin-dependent diabetes mellitus AE is a diabetes mellitus AE which is also called diabetes mellitus type 2, it's characterized by hyperglycemia (high blood sugar) in the context of insulin resistance and relative lack of insulin.
WEB: http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2
non-insulin-dependent diabetes mellitus AE
Insulin dependent diabetes mellitus AE is a diabetes mellitus AE which is also called diabetes mellitus type 1. It results from the autoimmune destruction of the insulin-producing beta cells in the pancreas.
WEB: http://en.wikipedia.org/wiki/Diabetes_mellitus_type_1
insulin dependent diabetes mellitus AE
Uveitis AE is an inflammation AE that is inflammation of the uvea, which lines the inside of the eye behind the cornea.
WEB: http://en.wikipedia.org/wiki/Uveitis
uveitis AE
Unstable diabetes AE is a diabetes mellitus AE that is a type of diabetes when a person's blood glucose level often swings quickly from high to low and from low to high.
WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=7271
Retinal detachment AE is an eye AE that is a separation of the retina from its attachments to the underlying tissue within the eye.
WEB: http://www.medicinenet.com/retinal_detachment/article.htm
Severe rhabdomyolysis AE is a rhabdomyolysis AE that shows in severe damaged skeletal muscle tissue breaks down rapidly.
Encephalitis AE is a nervous system AE that is an acute inflammation of the brain.
WEB: http://en.wikipedia.org/wiki/Encephalitis
a pneumonitis AE that has severe symptoms; limiting self care ADL; oxygen indicated
a pneumonitis AE that has life-threatening respiratory compromise; urgent intervention indicated (e.g., tracheotomy or intubation)
a hypeglycemia AE that has fasting glucose value >ULN - 160 mg/dL; Fasting glucose value >ULN - 8.9 mmol/L
a hypeglycemia AE that has fasting glucose value >160 - 250 mg/dL; Fasting glucose value >8.9 - 13.9 mmol/L
a hypeglycemia AE that has >250 - 500 mg/dL; >13.9 - 27.8 mmol/L; hospitalization indicated
a hypeglycemia AE that has >500 mg/dL; >27.8 mmol/L; life-threatening consequences
an endocrine system AE that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex as in Addison's disease or primary adrenal insufficiency.
an uveitis AE that has anterior uveitis; medical intervention indicated
an uveitis AE that has posterior or pan-uveitis
an uveitis AE that has blindness (20/200 or worse) in the affected eye
A urinary system AE that is characterized by a condition in which the nephrons, the functional units of the kidneys, become inflamed.
David Ameriguian, Oliver He
nephritis AE
A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by alanine.
Serine/Threonine-Protein Kinase B-raf V600A
Serine/Threonine-Protein Kinase B-raf Val600Ala
A nucleotide substitution at position 1799 of the coding sequence of the BRAF gene where thymine has been mutated to cytosine.
v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1799T>C
A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by aspartic acid.
Serine/Threonine-Protein Kinase B-raf V600D
Serine/Threonine-Protein Kinase B-raf Val600Asp
A complex substitution where the nucleotide sequence at positions 1799 and 1780 of the coding sequence of the BRAF gene has changed from thymine-guanine to adenine-thymine.
v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1799_1800TG>AT
A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by glutamic acid.
Serine/Threonine-Protein Kinase B-raf V600E
Serine/Threonine-Protein Kinase B-raf Val600Glu
A complex substitution where the nucleotide sequence at positions 1799 and 1780 of the coding sequence of the BRAF gene has changed from thymine-guanine to adenine-adenine.
v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1799_1800TG>AA
A nucleotide substitution at position 1799 of the coding sequence of the BRAF gene where thymine has been mutated to adenine.
v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1799T>A
A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by glycine.
Serine/Threonine-Protein Kinase B-raf V600G
Serine/Threonine-Protein Kinase B-raf Val600Gly
A nucleotide substitution at position 1799 of the coding sequence of the BRAF gene where thymine has been mutated to guanine.
v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1799T>G
A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by lysine.
Serine/Threonine-Protein Kinase B-raf V600K
Serine/Threonine-Protein Kinase B-raf Val600Lys
A complex substitution where the nucleotide sequence at positions 1798 and 1799 of the coding sequence of the BRAF gene has changed from guanine-thymine to adenine-adenine.
v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1798_1799GT>AA
A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by leucine.
Serine/Threonine-Protein Kinase B-raf V600L
Serine/Threonine-Protein Kinase B-raf Val600Leu
A nucleotide substitution at position 1798 of the coding sequence of the BRAF gene where guanine has been mutated to thymine.
v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1798G>T
A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by methionine.
Serine/Threonine-Protein Kinase B-raf V600M
Serine/Threonine-Protein Kinase B-raf Val600Met
A nucleotide substitution at position 1798 of the coding sequence of the BRAF gene where guanine has been mutated to adenine.
v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1798G>A
A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by arginine.
Serine/Threonine-Protein Kinase B-raf V600R
Serine/Threonine-Protein Kinase B-raf Val600Arg
A complex substitution where the nucleotide sequence at positions 1798 and 1799 of the coding sequence of the BRAF gene has changed from guanine-thymine to adenine-guanine.
v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1798_1799GT>AG
A complex substitution where the nucleotide sequence at positions 1797 through 1799 of the coding sequence of the BRAF gene has changed from adenine-guanine-thymine to guanine-adenine-guanine.
v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1797_1799AGT>GAG