editor preferred label editor preferred label editor preferred term 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 GROUP:OBI:<http://purl.obolibrary.org/obo/obi> editor preferred label editor preferred label editor preferred term editor preferred term editor preferred term~editor preferred label has curation status PERSON:Alan Ruttenberg PERSON:Bill Bug PERSON:Melanie Courtot OBI_0000281 has curation status has curation status definition definition textual 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. 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. PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> DEFINITION definition definition textual definition 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. PERSON:Daniel Schober GROUP:OBI:<http://purl.obfoundry.org/obo/obi> IAO:0000116 uberon editor_note 1 editor_note editor note editor note 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. PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> definition editor term editor term editor alternative term An alternative name for a class or property which means the same thing as the preferred name (semantically equivalent) PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> alternative term alternative term 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 PERSON:Daniel Schober Discussion on obo-discuss mailing-list, see http://bit.ly/hgm99w GROUP:OBI:<http://purl.obolibrary.org/obo/obi> definition source definition source 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. A11 Conceptual Entity Has_NICHD_Parent Has_NICHD_Parent Has_NICHD_Parent An association that indicates that a finding or lab test is related to a gene, possibly through a variant or product. A13 Conceptual Entity Related_To_Genetic_Biomarker Related_To_Genetic_Biomarker Related_To_Genetic_Biomarker 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. A7 Conceptual Entity Has Target Has_Target Has_Target Has_Target true A property representing a concept unique identifier within the NCI Enterprise Vocabulary Service's NCI Thesaurus. NHC0 code code code 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. P106 Conceptual Entity Semantic Type Semantic_Type 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. Semantic_Type Semantic_Type A property representing an alternative Preferred Name for use in some NCI systems. P107 Conceptual Entity Display Name Display_Name Display Name Display_Name Display_Name A property representing the word or phrase that NCI uses by preference to refer to the concept. P108 Conceptual Entity Preferred Name Preferred_Name Preferred Name Preferred Term Preferred_Name Preferred_Name 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. P207 Conceptual Entity UMLS CUI UMLS_CUI UMLS_CUI UMLS_CUI 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). P208 Conceptual Entity NCI Metathesaurus CUI NCI_META_CUI NCI_META_CUI NCI_META_CUI A property representing the Chemical Abstracts Service number for a Chemical or Drug. P210 Conceptual Entity CAS Registry Number CAS_Registry CAS_Registry CAS_Registry 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. P302 Conceptual Entity Accepted Therapeutic Use For Accepted_Therapeutic_Use_For Accepted_Therapeutic_Use_For Accepted_Therapeutic_Use_For 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. P310 Conceptual Entity Concept Status Concept_Status Concept_Status Concept_Status A property representing the dbSNP id number for the genetic polymorphism due to base substitutions. P315 Conceptual Entity SNP ID SNP_ID SNP_ID SNP_ID A property representing the FDA Unique Ingredient Identifier, a key component of the federal drug information model. P319 Conceptual Entity FDA UNII Code FDA_UNII_Code FDA_UNII_Code FDA_UNII_Code 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. P322 Conceptual Entity Contributing Source Contributing_Source Contributing_Source Contributing_Source A property representing the English language definition of a concept from a source other than NCI. P325 Conceptual Entity [source] Definition ALT_DEFINITION ALT_DEFINITION ALT_DEFINITION 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. P329 Conceptual Entity PDQ Open Trial Search ID PDQ_Open_Trial_Search_ID PDQ_Open_Trial_Search_ID PDQ_Open_Trial_Search_ID 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. P330 Conceptual Entity PDQ Closed Trial Search ID PDQ_Closed_Trial_Search_ID PDQ_Closed_Trial_Search_ID PDQ_Closed_Trial_Search_ID A property representing a concise expression about the atoms that constitute a particular chemical compound. P350 Conceptual Entity Chemical Formula Chemical_Formula CRCH Chemical Formula Chemical_Formula Chemical_Formula true 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. P366 Conceptual Entity Legacy Concept Name Legacy Concept Name Legacy_Concept_Name 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. P368 Conceptual Entity CHEBI_ID CHEBI_ID CHEBI_ID A property representing a term chosen by NICHD to be used in the representation of the NICHD hierarchy. P371 Conceptual Entity NICHD_Hierarchy_Term NICHD NICHD_Hierarchy_Term NICHD_Hierarchy_Term 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. P375 Conceptual Entity Maps_To Maps_To Maps_To 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. P98 Conceptual Entity DesignNote DesignNote DesignNote DesignNote YH, JX a chinese translation represents a chinese translation of the existing term. Chinese translation has_MedDRA_id An alternative term used by the IEDB. IEDB alternative term created_by creation_date has_alternative_id has_broad_synonym database_cross_reference 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. FULL_SYN Synonym with Source Data has exact synonym has_exact_synonym has_narrow_synonym disease_ontology has_obo_namespace has_related_synonym id An association that connects the concept defining a particular terminology subset with concepts that belong to this subset. Concept_In_Subset in subset in_subset shorthand label label label Complication Occurs In A role used to relate a disease to the general site, structure or system where the specific pathological process is located. Disease Has Associated Anatomic Site A role used to relate a disease to the anatomical site where the originating pathological process is located. Disease Has Primary Anatomic Site A role used to relate a disease to the site of a metastatic lesion associated with the disease. Disease Has Metastatic Anatomic Site A role used to relate a disease to the type of normal tissue in which the disease process began. Disease Has Normal Tissue Origin A role used to relate a disease to a molecular abnormality that is present in the specified disease state. Disease Has Molecular Abnormality 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. Disease Is Grade A role used to represent that another disease or disorder will only be observed in some cases of the specified disease. Disease May Have Associated 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). Disease Has Associated Disease 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. Procedure Has Target Anatomy 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. Procedure May Have Excised Anatomy 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 Procedure Has Partially Excised Anatomy 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. Procedure Has Target Disease A role used to indicate that an anatomic structure has a physical association with a broader system or organ. Is Physical Part Of 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. Disease Is Stage Gene mutations lead to disease. Variation Is Biomarker Of A gene can be used to diagnose a disease. Variation Is Biomarker-diagnosis Of At the cellular and molecular level, drugs can target mutated gene sites. Is Target Drug Of Gene Mutation Disease Has Symptom Of Symptoms associated with this disease can be relieved by taking certain drug. Disease Treated by Drug Disease Has Phenotype Of Pharmacogenomic Effects Disease The combined effect of two or more drugs in clinic Drug Interacts With Associated Drug Two or more drugs will be used together to improve the clinical effects Drug Synergized By Associated Drug When drugs are used together, the effects are weakened or disappeared. In most cases, it is not suitable to use them in pairs. Drug Antagnized By Associated Drug Abnormality Is Phemotype Of Disease Abnormality Exits In Excised Anatomy Genetic Variation Results In Abnormality Procedure Is Diagnose Of Disease A relation that holds between a disease or an organism and a phenotype Disease Has Symptom Of Symptoms associated with this disease can be relieved by taking certain drug. Is Substance That Treats Disease 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). disease_ontology DOID:0050155 sensory system disease DOID:0050155 A cancer that is classified based on the organ it starts in. snadendla 2011-06-13T03:28:33Z MESH:D009371 disease_ontology DOID:0050686 organ system cancer DOID:0050686 A cancer that is classified by the type of cell from which it is derived. snadendla 2011-06-13T03:28:50Z disease_ontology DOID:0050687 cell type cancer DOID:0050687 A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. lschriml 2014-10-21T13:51:49Z disease_ontology DOID:0050929 mucosal melanoma DOID:0050929 A nervous system cancer that is located in the sensory system. lschriml 2011-07-25T01:51:56Z disease_ontology DOID:0060116 sensory system cancer DOID:0060116 An organ system cancer that is located_in the skin, hair and nails. lschriml 2011-07-27T02:31:34Z disease_ontology DOID:0060122 integumentary system cancer DOID:0060122 A gastrointestinal system disease that is located_in the gallbladder. emitraka 2015-02-02T15:48:08Z DOID:0000000 ICD10CM:K82.9 ICD9CM:575.9 MESH:D005705 NCI:C34631 OMIM:609918 OMIM:609919 OMIM:611465 SNOMEDCT_US_2019_09_01:39621005 UMLS_CUI:C0016977 disease_ontology DOID:0060262 Xref MGI. gallbladder disease DOID:0060262 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. NCI:C136825 atypical spitz nevus disease_ontology DOID:0070326 spitzoid melanoma DOID:0070326 A skin melanoma that arises from a congenital melanocytic nevus. GARD:2469 ICDO:M8761/3 NCI:C48613 SNOMEDCT_US_2019_09_01:75931002 Malignant melanoma in congenital melanocytic nevus melanocytic nevi disease_ontology DOID:0070327 melanoma in congenital melanocytic nevus DOID:0070327 A gastrointestinal system cancer that is located_in the hepatobiliary system. disease_ontology DOID:0080355 hepatobiliary system cancer DOID:0080355 NCI:C4358 SNOMEDCT_US_2019_09_01:231834005 UMLS_CUI:C0339116 disease_ontology DOID:10040 malignant eyelid melanoma DOID:10040 NCI:C4227 SNOMEDCT_US_2019_09_01:403922007 UMLS_CUI:C0334426 disease_ontology DOID:10044 balloon cell malignant melanoma DOID:10044 A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. GARD:9961 NCI:C4225 SNOMEDCT_US_2019_09_01:2142002 UMLS_CUI:C0334424 nodular melanoma disease_ontology DOID:10047 nodular malignant melanoma DOID:10047 NCI:C4633 SNOMEDCT_US_2019_09_01:276751004 UMLS_CUI:C0349515 skin amelanotic malignant melanoma disease_ontology DOID:10054 skin amelanotic melanoma DOID:10054 A gastrointestinal system cancer that is located_in the intestine. ICD10CM:C26.0 ICD9CM:159.0 MESH:D007414 NCI:C4572 SNOMEDCT_US_2019_09_01:363508008 UMLS_CUI:C0346627 malignant intestinal tumors malignant neoplasm of intestine disease_ontology DOID:10155 intestinal cancer DOID:10155 DOID:12760 ICD10CM:C69.3 ICD9CM:190.6 MESH:D002830 NCI:C2949 NCI:C3566 SNOMEDCT_US_2019_09_01:127001008 SNOMEDCT_US_2019_09_01:363466008 UMLS_CUI:C0008523 UMLS_CUI:C0153630 Choroidal tumor choroid neoplasm malignant tumor of choroid malignant tumor of the Choroid neoplasm of choroid disease_ontology DOID:12759 choroid cancer DOID:12759 MESH:D012002 SNOMEDCT_US_2019_09_01:5964004 UMLS_CUI:C0034882 disease_ontology DOID:1285 rectal disease DOID:1285 NCI:C7361 UMLS_CUI:C1331544 melanoma of scrotum disease_ontology DOID:13160 scrotum melanoma DOID:13160 A large intestine cancer that is located_in the anus. DOID:12240 GARD:9300 ICD10CM:C21.0 ICD10CM:C21.1 ICD9CM:154.2 ICD9CM:154.3 NCI:C7379 SNOMEDCT_US_2019_09_01:363352004 SNOMEDCT_US_2019_09_01:363490009 UMLS_CUI:C0153445 UMLS_CUI:C0153446 anal cancer malignant anal tumor disease_ontology DOID:14110 anus cancer DOID:14110 NCI:C4639 SNOMEDCT_US_2019_09_01:276821000 UMLS_CUI:C0349538 anal melanoma malignant melanoma of anus disease_ontology DOID:14145 malignant anus melanoma DOID:14145 NCI:C5158 UMLS_CUI:C1336045 melanoma of the Spinal Cord disease_ontology DOID:14151 spinal cord melanoma DOID:14151 ICD10CM:H31.9 ICD9CM:363.9 MESH:D015862 NCI:C34468 UMLS_CUI:C0008521 disease_ontology DOID:1417 choroid disease DOID:1417 A disease that is characterized by abnormally rapid cell division. neoplasm DOID:0000818 cell process disease neoplasm disease_ontology DOID:14566 disease of cellular proliferation DOID:14566 A disease of anatomical entity that is located_in reproductive system organs. DOID:6309 NCI:C27613 UMLS_CUI:C1335037 genital system disease disease_ontology DOID:15 reproductive system disease DOID:15 A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. disease_ontology DOID:16 integumentary system disease DOID:16 A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. ICD10CM:C80.1 ICD9CM:199 ICDO:M8000/3 MESH:D009369 NCI:C9305 SNOMEDCT_US_2019_09_01:363346000 UMLS_CUI:C0006826 malignant neoplasm malignant tumor primary cancer disease_ontology DOID:162 Updating out dated UMLS CUI. cancer DOID:162 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. EFO:0000756 KEGG:05218 MESH:D008545 NCI:C3224 SNOMEDCT_US_2019_09_01:2092003 UMLS_CUI:C0025202 Naevocarcinoma malignant melanoma disease_ontology DOID:1909 melanoma DOID:1909 An organ system cancer that is manifested in the reproductive organs. DOID:1900 NCI:C3674 UMLS_CUI:C0178830 Reproductive tumor malignant reproductive system neoplasm disease_ontology cancer of reproductive system DOID:193 reproductive organ cancer DOID:193 NCI:C4640 SNOMEDCT_US_2019_09_01:276822007 UMLS_CUI:C0349539 malignant melanoma of rectum melanoma of rectum disease_ontology DOID:1992 rectum malignant melanoma DOID:1992 A colorectal cancer that is located_in the rectum. DOID:1989 ICD10CM:C20 ICD9CM:154.1 MESH:D012004 NCI:C7418 NCI:C9382 SNOMEDCT_US_2019_09_01:363351006 UMLS_CUI:C0007113 UMLS_CUI:C0949022 carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer disease_ontology cancer of rectum DOID:1993 rectum cancer DOID:1993 A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. DOID:9985 ICD9CM:190.8 MESH:D005134 NCI:C3030 SNOMEDCT_US_2019_09_01:371486001 UMLS_CUI:C0015414 UMLS_CUI:C0153632 Ocular tumor eye neoplasm malignant eye neoplasm neoplasm of eye neoplasm of eye proper disease_ontology DOID:2174 ocular cancer DOID:2174 MESH:D007499 NCI:C34737 SNOMEDCT_US_2019_09_01:85478004 UMLS_CUI:C0022078 disease_ontology DOID:240 iris disease DOID:240 An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. DOID:1193 DOID:3195 DOID:4695 ICD9CM:192.9 MESH:D009380 NCI:C35562 UMLS_CUI:C0027665 UMLS_CUI:C0153643 UMLS_CUI:C1334956 malignant neoplasm of nervous system neoplasm of nervous system nervous system neoplasm neural neoplasm neural tumor tumor of the nervous system disease_ontology DOID:3093 nervous system cancer DOID:3093 An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. DOID:4945 DOID:8377 ICD10CM:C26.9 ICD9CM:239.0 MESH:D004067 MESH:D005770 NCI:C3052 NCI:C4890 SNOMEDCT_US_2019_09_01:126768004 SNOMEDCT_US_2019_09_01:128348002 SNOMEDCT_US_2019_09_01:428905002 UMLS_CUI:C0012243 UMLS_CUI:C0017185 UMLS_CUI:C0685938 GI tumor digestive system cancer gastrointestinal tract cancer disease_ontology DOID:3119 gastrointestinal system cancer DOID:3119 A biliary tract cancer that is located_in the gallbladder. DOID:8090 DOID:8157 GARD:9328 ICD10CM:C23 ICD9CM:156.0 MESH:D005706 NCI:C3048 NCI:C35676 NCI:C7481 SNOMEDCT_US_2019_09_01:126854002 SNOMEDCT_US_2019_09_01:363353009 UMLS_CUI:C0016978 UMLS_CUI:C0153452 UMLS_CUI:C0278806 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 disease_ontology DOID:3121 gallbladder cancer DOID:3121 DOID:11479 DOID:11993 MESH:D001004 NCI:C26695 SNOMEDCT_US_2019_09_01:32110003 UMLS_CUI:C0003462 Nontraumatic tear of anus Solitary anal ulcer Ulcer of anus anal disease anal fissure anal fissure and fistula anal ulcer fissure in ano disease_ontology DOID:3128 anus disease DOID:3128 A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles. NCI:C4237 SNOMEDCT_US_2019_09_01:68827007 UMLS_CUI:C0334444 Spitzoid malignant melanoma spindle cell malignant melanoma spindle cell melanoma disease_ontology desmoplastic melanoma DOID:3162 malignant spindle cell melanoma DOID:3162 ICD10CM:G95.9 ICD9CM:336.9 MESH:D013118 NCI:C97110 SNOMEDCT_US_2019_09_01:48522003 UMLS_CUI:C0037928 disease_ontology myelopathy DOID:319 spinal cord disease DOID:319 A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. ICD10CM:G96.9 MESH:D002493 NCI:C2934 SNOMEDCT_US_2019_09_01:23853001 UMLS_CUI:C0007682 disease_ontology DOID:331 central nervous system disease DOID:331 DOID:6353 MESH:D015811 NCI:C3142 NCI:C4554 SNOMEDCT_US_2019_09_01:188264002 SNOMEDCT_US_2019_09_01:231964001 UMLS_CUI:C0022079 UMLS_CUI:C0346372 malignant neoplasm of the Iris malignant tumor of iris tumor of the Iris disease_ontology DOID:3478 iris cancer DOID:3478 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. DOID:12754 MESH:D014604 NCI:C3436 NCI:C6105 UMLS_CUI:C0042162 UMLS_CUI:C1334629 Uveal tumor malignant Uveal tumor malignant uvea neoplasm disease_ontology DOID:3479 uveal cancer DOID:3479 An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. GARD:8192 MESH:D014603 NCI:C26908 SNOMEDCT_US_2019_09_01:95678007 UMLS_CUI:C0042161 disease_ontology DOID:3480 uveal disease DOID:3480 A nervous system cancer that is located_in the central nervous system. DOID:0060093 DOID:1318 EFO:0000326 ICD10CM:C72.9 MESH:D016543 NCI:C4627 NCI:C9293 SNOMEDCT_US_2019_09_01:126951006 SNOMEDCT_US_2019_09_01:372062007 UMLS_CUI:C0085136 UMLS_CUI:C0348374 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 disease_ontology DOID:3620 central nervous system cancer DOID:3620 An integumentary system disease that is located_in skin. DOID:1576 DOID:1698 DOID:187 DOID:6486 DOID:8948 ICD9CM:702 MESH:D012871 MESH:D012873 NCI:C156032 NCI:C27554 SNOMEDCT_US_2019_09_01:239001006 SNOMEDCT_US_2019_09_01:95320005 UMLS_CUI:C0029574 UMLS_CUI:C0037274 UMLS_CUI:C0037277 Genodermatosis skin and subcutaneous tissue disease disease_ontology DOID:37 skin disease DOID:37 A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. DOID:10284 ICD10CM:C63.9 ICD9CM:187.9 MESH:D005834 NCI:C3054 NCI:C8561 SNOMEDCT_US_2019_09_01:126895004 SNOMEDCT_US_2019_09_01:363515000 UMLS_CUI:C0017417 UMLS_CUI:C0153606 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 disease_ontology male genital neoplasm DOID:3856 male reproductive organ cancer DOID:3856 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. MESH:D004194 NCI:C2991 SNOMEDCT_US_2019_09_01:64572001 UMLS_CUI:C0012634 disease_ontology DOID:4 Disease DOID:4 An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. GARD:10421 MESH:D012878 NCI:C2920 SNOMEDCT_US_2019_09_01:372130007 UMLS_CUI:C0007114 CA - skin cancer malignant neoplasm of skin melanoma and Non-melanoma skin cancer disease_ontology cancer of skin DOID:4159 skin cancer DOID:4159 DOID:6352 ICD10CM:C69.4 NCI:C4364 NCI:C4766 SNOMEDCT_US_2019_09_01:126998003 SNOMEDCT_US_2019_09_01:188263008 UMLS_CUI:C0339349 UMLS_CUI:C0496833 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 disease_ontology DOID:4352 ciliary body cancer DOID:4352 NCI:C35775 SNOMEDCT_US_2019_09_01:68575007 UMLS_CUI:C0271100 disease_ontology DOID:4353 ciliary body disease DOID:4353 MESH:D018328 NCI:C3802 SNOMEDCT_US_2019_09_01:70594002 UMLS_CUI:C0206735 Amelanotic melanoma disease_ontology DOID:4359 amelanotic melanoma DOID:4359 NCI:C4236 SNOMEDCT_US_2019_09_01:37138001 UMLS_CUI:C0334443 epithelioid melanoma disease_ontology DOID:4360 epithelioid cell melanoma DOID:4360 A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. DOID:8092 GARD:5924 GARD:9304 ICD10CM:C24.9 ICD9CM:156.9 MESH:D001661 SNOMEDCT_US_2019_09_01:126853008 SNOMEDCT_US_2019_09_01:363415003 UMLS_CUI:C0005426 UMLS_CUI:C0750952 malignant tumour of biliary tract disease_ontology DOID:4607 biliary tract cancer DOID:4607 A reproductive system disease that affects male reproductive organs. ICD10CM:N50.9 ICD9CM:608.9 MESH:D005832 SNOMEDCT_US_2019_09_01:64557000 UMLS_CUI:C0017412 disease_ontology DOID:48 male reproductive system disease DOID:48 DOID:13158 ICD10CM:C63.2 ICD9CM:187.7 NCI:C3560 NCI:C4380 SNOMEDCT_US_2019_09_01:126905005 SNOMEDCT_US_2019_09_01:363454002 UMLS_CUI:C0153604 UMLS_CUI:C0341790 Scrotal Ca Scrotal tumor malignant Scrotal neoplasm malignant tumor of scrotum malignant tumour of scrotum neoplasm of scrotum scrotum cancer disease_ontology DOID:518 scrotum neoplasm DOID:518 A gastrointestinal system disease that is located_in the intestine. DOID:10759 DOID:11222 DOID:11789 DOID:8531 DOID:8558 DOID:8591 ICD10CM:K63.9 ICD9CM:569.9 MESH:D007410 NCI:C26801 SNOMEDCT_US_2019_09_01:85919009 UMLS_CUI:C0021831 disease_ontology DOID:5295 intestinal disease DOID:5295 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). DOID:3638 DOID:7225 ICD10CM:C72.0 ICD9CM:192.2 MESH:D013120 MESH:D013125 NCI:C3381 NCI:C3572 SNOMEDCT_US_2019_09_01:126962006 SNOMEDCT_US_2019_09_01:363475005 SNOMEDCT_US_2019_09_01:709289008 UMLS_CUI:C0037930 UMLS_CUI:C0037939 UMLS_CUI:C0153646 Intraspinal tumor malignant tumor of the Spinal Cord spinal cord cancer spinal cord neoplasm tumor of the Spinal Cord disease_ontology spinal neoplasm DOID:5612 spinal cancer DOID:5612 An eye and adnexa disease that is located_in the eye. DOID:2933 ICD10CM:H44 ICD9CM:379.90 MESH:D005128 NCI:C26767 SNOMEDCT_US_2019_09_01:371405004 UMLS_CUI:C0015397 disease_ontology DOID:5614 eye disease DOID:5614 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. DOID:1994 DOID:1997 ICD10CM:C18.9 SNOMEDCT_US_2019_09_01:126837005 SNOMEDCT_US_2019_09_01:363510005 UMLS_CUI:C0346629 disease_ontology DOID:5672 large intestine cancer DOID:5672 A uveal cancer that has_material_basis_in uvea pigment cells. MESH:C536494 NCI:C7712 OMIM:155720 OMIM:606660 OMIM:606661 ORDO:39044 UMLS_CUI:C0220633 melanoma of Uvea disease_ontology DOID:6039 Xref MGI. OMIM mapping confirmed by DO. [SN]. uveal melanoma DOID:6039 A malignant choroid melanoma that is located_in the choroid. NCI:C6099 UMLS_CUI:C1333027 spindle cell melanoma of the Choroid disease_ontology DOID:6041 choroid spindle cell melanoma DOID:6041 A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles. NCI:C6117 UMLS_CUI:C1333052 spindle cell melanoma of the Ciliary body disease_ontology DOID:6043 ciliary body spindle cell melanoma DOID:6043 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. GARD:9570 acral lentiginous melanoma, malignant malignant acral lentiginous melanoma disease_ontology DOID:6367 acral lentiginous melanoma DOID:6367 NCI:C4561 SNOMEDCT_US_2019_09_01:255021005 UMLS_CUI:C0346388 malignant melanoma of choroid melanoma of the Choroid disease_ontology DOID:6438 malignant choroid melanoma DOID:6438 NCI:C35781 UMLS_CUI:C1334782 disease_ontology DOID:6522 mixed cell uveal melanoma DOID:6522 NCI:C35783 UMLS_CUI:C1333051 disease_ontology DOID:6523 ciliary body mixed cell melanoma DOID:6523 DOID:6746 NCI:C9089 NCI:C9090 UMLS_CUI:C0278867 UMLS_CUI:C0278868 medium/large size posterior uveal melanoma small size posterior uveal melanoma disease_ontology DOID:6566 posterior uveal melanoma DOID:6566 NCI:C8498 UMLS_CUI:C1512419 disease_ontology DOID:6846 familial melanoma DOID:6846 NCI:C9088 SNOMEDCT_US_2019_09_01:255012009 UMLS_CUI:C0346373 malignant melanoma of iris melanoma of the Iris disease_ontology DOID:6994 malignant iris melanoma DOID:6994 A disease that manifests in a defined anatomical structure. DOID:1 DOID:2 DOID:5 DOID:71 DOID:72 DOID:8 disease_ontology DOID:7 disease of anatomical entity DOID:7 NCI:C35780 UMLS_CUI:C1333422 disease_ontology DOID:7040 uveal epithelioid cell melanoma DOID:7040 NCI:C6102 UMLS_CUI:C1333024 Choroidal epithelioid cell melanoma disease_ontology DOID:7041 choroid epithelioid cell melanoma DOID:7041 NCI:C6119 UMLS_CUI:C1333050 disease_ontology DOID:7042 ciliary body epithelioid cell melanoma DOID:7042 NCI:C9499 UMLS_CUI:C1334691 disease_ontology DOID:7206 melanomatosis DOID:7206 A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris. NCI:C6098 UMLS_CUI:C1334287 disease_ontology DOID:7328 iris spindle cell melanoma DOID:7328 A disease of anatomical entity that is located_in the gastrointestinal tract. DOID:27 DOID:944 ICD10CM:K92.9 ICD9CM:520-579.99 MESH:D004066 SNOMEDCT_US_2019_09_01:53619000 UMLS_CUI:C0012242 GIT disease Gastroenteropathy alimentary system disease digestive system disorder gastrointestinal disease gastrointestinal disorder disease_ontology DOID:77 gastrointestinal system disease DOID:77 NCI:C6865 UMLS_CUI:C1333026 necrotic Choroid melanoma disease_ontology DOID:7807 choroid necrotic melanoma DOID:7807 An uveal melanoma characterized by the presence of tumor cell necrosis. NCI:C7990 UMLS_CUI:C0279695 disease_ontology DOID:7808 necrotic uveal melanoma DOID:7808 NCI:C5735 UMLS_CUI:C1333749 malignant melanoma of gallbladder disease_ontology DOID:8167 gallbladder melanoma DOID:8167 A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. ICD10CM:G98 ICD9CM:349.9 MESH:D009422 NCI:C26835 SNOMEDCT_US_2019_09_01:118940003 UMLS_CUI:C0027765 disease_ontology DOID:863 nervous system disease DOID:863 A skin cancer that has_material_basis_in melanocytes. DOID:0050609 DOID:10043 DOID:10046 DOID:10051 DOID:10052 DOID:10055 DOID:8922 ICD10CM:C43.9 ICD9CM:172.9 MESH:C562393 NCI:C3510 OMIM:608035 OMIM:612263 SNOMEDCT_US_2019_09_01:93655004 UMLS_CUI:C0151779 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 disease_ontology DOID:8923 Xref MGI. OMIM mapping confirmed by DO. [LS]. skin melanoma DOID:8923 A large intestine cancer that is located_in the colon and/or located_in the rectum. KEGG:05210 MESH:D015179 NCI:C2956 NCI:C4978 OMIM:114500 UMLS_CUI:C0009404 UMLS_CUI:C0346629 disease_ontology DOID:9256 Xref MGI. OMIM mapping confirmed by DO. [SN]. colorectal cancer DOID:9256 Organ with organ cavity which is connected to the optic nerve. Examples: There are only two eyeballs, the right and the left eyeballs.. fma FMA:12513 Eyeball FMA:12513 fma FMA:12514 Right eyeball FMA:12514 fma FMA:12515 Left eyeball FMA:12515 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. fma FMA:14065 Organ component FMA:14065 Back of body proper fma FMA:14181 Back FMA:14181 fma FMA:14544 Rectum FMA:14544 Gastric mucosa Gastric mucous membrane Mucous membrane of stomach Tunica mucosa (Gaster) fma FMA:14907 Mucosa of stomach FMA:14907 Mucous membrane of small intestine Small intestinal mucosa Small intestine mucous membrane Tunica mucosa (Intestinum tenue) fma FMA:14933 Mucosa of small intestine FMA:14933 Large intestinal mucosa Mucous membrane of large intestine fma FMA:14969 Mucosa of large intestine FMA:14969 Appendiceal mucous membrane Appendix mucosa Mucosa of vermiform appendix fma FMA:14991 Mucosa of appendix FMA:14991 Organ with organ cavity which is continuous proximally with the rectum and distally terminates with the anus. Examples: There is only one anal canal. Anal canal viewed anatomically Anatomical anal canal fma FMA:15703 Anal canal FMA:15703 Anal orifice fma FMA:15711 Anus FMA:15711 fma FMA:17445 Organ system cavity FMA:17445 Female genital tract lumen Lumen of female genital tract fma FMA:17447 Lumen of female genital system FMA:17447 Lumen of male genital system Male genital tract lumen fma FMA:17450 Lumen of male genital tract FMA:17450 Female pudendum Puboperineal region fma FMA:20462 Vulva FMA:20462 Male chest fma FMA:223653 Male thorax FMA:223653 Female chest fma FMA:223655 Female thorax FMA:223655 fma FMA:228738 Throat FMA:228738 fma FMA:231430 Subdivision of body proper FMA:231430 fma FMA:241863 Free limb segment FMA:241863 First digit of hand fma FMA:24938 Thumb FMA:24938 Second digit of hand Second finger fma FMA:24946 Index finger FMA:24946 Third digit of hand Third finger fma FMA:24947 Middle finger FMA:24947 Fourth digit of hand Fourth finger fma FMA:24948 Ring finger FMA:24948 Fifth digit of hand Fifth finger fma FMA:24949 Little finger FMA:24949 Intermediate segment of free lower limb fma FMA:24979 Leg FMA:24979 fma FMA:24980 Right leg FMA:24980 fma FMA:24981 Left leg FMA:24981 Foot region Foot subdivision Subdivision of foot fma FMA:24993 Segment of foot FMA:24993 Calcaneal region Heel region fma FMA:24994 Heel FMA:24994 fma FMA:24995 Right heel FMA:24995 fma FMA:24996 Left heel FMA:24996 Digit of foot fma FMA:25046 Toe FMA:25046 Great toe Hallux; Digitus primus [I] fma FMA:25047 Big toe FMA:25047 Digitus secundus [II] Second digit of foot fma FMA:25048 Second toe FMA:25048 Digitus tertius [III] Third digit of foot fma FMA:25051 Third toe FMA:25051 Digitus quartus [IV] Fourth digit of foot fma FMA:25052 Fourth toe FMA:25052 Digitus minimus; Digitus quintus [V] Fifth digit of foot Fifth toe fma FMA:25053 Little toe FMA:25053 fma FMA:259092 Male abdomen FMA:259092 fma FMA:259094 Female abdomen FMA:259094 fma FMA:259102 Subdivision of trunk proper FMA:259102 Subdivision of respiratory system which consists of the nose, nasopharynx, oropharynx and larynx fma FMA:45661 Upper respiratory tract FMA:45661 fma FMA:46688 Pharynx FMA:46688 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. fma FMA:49443 Anatomical cluster FMA:49443 Nail plate fma FMA:54326 Nail FMA:54326 Finger nail Fingernail Nail plate of finger fma FMA:54327 Nail of finger FMA:54327 Nail plate of toe Toe nail Toenail fma FMA:54328 Nail of toe FMA:54328 Nail plate of thumb Thumb nail fma FMA:54329 Nail of thumb FMA:54329 Nail plate of right thumb Right thumb nail fma FMA:54330 Nail of right thumb FMA:54330 Left thumb nail Nail plate of left thumb fma FMA:54331 Nail of left thumb FMA:54331 Index finger nail Nail of second finger Nail plate of index finger fma FMA:54332 Nail of index finger FMA:54332 Nail plate of right index finger Right index finger nail fma FMA:54333 Nail of right index finger FMA:54333 Left index finger nail Nail plate of left index finger fma FMA:54334 Nail of left index finger FMA:54334 Middle finger nail Nail of third finger Nail plate of middle finger fma FMA:54335 Nail of middle finger FMA:54335 Nail plate of right middle finger Right middle finger nail fma FMA:54336 Nail of right middle finger FMA:54336 Left middle finger nail Nail plate of left middle finger fma FMA:54337 Nail of left middle finger FMA:54337 Nail of fourth finger Nail plate of ring finger Ring finger nail fma FMA:54338 Nail of ring finger FMA:54338 Nail plate of right ring finger Right ring finger nail fma FMA:54339 Nail of right ring finger FMA:54339 Left ring finger nail Nail plate of left ring finger fma FMA:54340 Nail of left ring finger FMA:54340 Little finger nail Nail of fifth finger Nail plate of little finger fma FMA:54341 Nail of little finger FMA:54341 Nail plate of right little finger Right little finger nail fma FMA:54342 Nail of right little finger FMA:54342 Left little finger nail Nail plate of left little finger fma FMA:54343 Nail of left little finger FMA:54343 Big toe nail Nail of great toe Nail plate of big toe fma FMA:54344 Nail of big toe FMA:54344 Nail of right great toe Nail plate of right big toe Right big toe nail fma FMA:54345 Nail of right big toe FMA:54345 Left big toe nail Nail of left great toe Nail plate of left big toe fma FMA:54346 Nail of left big toe FMA:54346 Nail plate of second toe Second toe nail fma FMA:54347 Nail of second toe FMA:54347 Nail plate of right second toe Right second toe nail fma FMA:54348 Nail of right second toe FMA:54348 Left second toe nail Nail plate of left second toe fma FMA:54349 Nail of left second toe FMA:54349 Nail plate of third toe Third toe nail fma FMA:54350 Nail of third toe FMA:54350 Nail plate of right third toe Right third toe nail fma FMA:54351 Nail of right third toe FMA:54351 Left third toe nail Nail plate of left third toe fma FMA:54352 Nail of left third toe FMA:54352 Fourth toe nail Nail plate of fourth toe fma FMA:54353 Nail of fourth toe FMA:54353 Nail plate of right fourth toe Right fourth toe nail fma FMA:54354 Nail of right fourth toe FMA:54354 Left fourth toe nail Nail plate of left fourth toe fma FMA:54355 Nail of left fourth toe FMA:54355 Little toe nail Nail of fifth toe Nail plate of little toe fma FMA:54356 Nail of little toe FMA:54356 Nail of right fifth toe Nail plate of right little toe Right little toe nail fma FMA:54357 Nail of right little toe FMA:54357 Left little toe nail Nail of left fifth toe Nail plate of left little toe fma FMA:54358 Nail of left little toe FMA:54358 Face subdivision Facial region Region of face fma FMA:54393 Subdivision of face FMA:54393 Blepharon Palpebra fma FMA:54437 Eyelid FMA:54437 Superior eyelid fma FMA:54439 Upper eyelid FMA:54439 Right superior eyelid fma FMA:54440 Right upper eyelid FMA:54440 Left superior eyelid fma FMA:54441 Left upper eyelid FMA:54441 Inferior eyelid fma FMA:54442 Lower eyelid FMA:54442 Right inferior eyelid fma FMA:54443 Right lower eyelid FMA:54443 Left inferior eyelid fma FMA:54444 Left lower eyelid FMA:54444 Orbital part of face Orbital region fma FMA:54448 Eye FMA:54448 Right orbital part of face Right orbital region fma FMA:54449 Right eye FMA:54449 Left orbital part of face Left orbital region fma FMA:54450 Left eye FMA:54450 Solid organ which consists of organ parts that are arranged as fascicles or sheets. Examples: muscle (organ), ligament (organ), membrane (organ), skin, viscerocranial mucosa. fma FMA:55665 Nonparenchymatous organ FMA:55665 Cavitated organ in which its unshared parts surround one continuous anatomical space. Examples: stomach, urinary bladder, esophagus, uterine tube. fma FMA:55672 Organ with organ cavity FMA:55672 Tunica vasculosa of eyeball Uvea Uveal tract fma FMA:58103 Vascular layer of eyeball FMA:58103 fma FMA:58235 Iris FMA:58235 fma FMA:58295 Ciliary body FMA:58295 fma FMA:58298 Choroid FMA:58298 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. fma FMA:5897 Anatomical space FMA:5897 Wall of conjunctival sac fma FMA:59011 Conjunctiva FMA:59011 Conjunctiva of right eye Wall of right conjunctival sac fma FMA:59012 Right conjunctiva FMA:59012 Conjunctiva of left eye Wall of left conjunctival sac fma FMA:59013 Left conjunctiva FMA:59013 Mouth mucosa Mucous membrane of mouth Oral part of viscerocranial mucosa fma FMA:59660 Mucosa of mouth FMA:59660 fma FMA:59679 Paranasal sinus FMA:59679 Mucous membrane of nose Nasal mucosa fma FMA:59684 Mucosa of nose FMA:59684 Mucous membrane of auditory tube Mucous membrane of pharyngotympanic tube Mucuous membrane of Eustachian tube Mucuous membrane of pharyngotympanic tube Pharyngotympanic tube mucosa Tunica mucosa (Tuba auditiva) Tunica mucosa (Tuba auditoria) fma FMA:60109 Mucosa of pharyngotympanic tube FMA:60109 fma FMA:60325 Right thumb FMA:60325 fma FMA:60326 Left thumb FMA:60326 fma FMA:60327 Right little finger FMA:60327 fma FMA:60328 Left little finger FMA:60328 fma FMA:60329 Right ring finger FMA:60329 fma FMA:60330 Left ring finger FMA:60330 fma FMA:60331 Right middle finger FMA:60331 fma FMA:60332 Left middle finger FMA:60332 fma FMA:60333 Right index finger FMA:60333 fma FMA:60334 Left index finger FMA:60334 fma FMA:60335 Right big toe FMA:60335 fma FMA:60336 Left big toe FMA:60336 fma FMA:60337 Right second toe FMA:60337 fma FMA:60338 Left second toe FMA:60338 fma FMA:60339 Right third toe FMA:60339 fma FMA:60340 Left third toe FMA:60340 fma FMA:60341 Right fourth toe FMA:60341 fma FMA:60342 Left fourth toe FMA:60342 fma FMA:60343 Right little toe FMA:60343 fma FMA:60344 Left little toe FMA:60344 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. fma FMA:61775 Physical anatomical entity FMA:61775 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. fma FMA:62955 Anatomical entity FMA:62955 Esophageal mucosa Esophagus mucosa Mucous membrane of oesophagus Muscularis mucosae of oesophagus Oesophageal mucosa fma FMA:62996 Mucosa of esophagus FMA:62996 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. Biological structure fma FMA:67135 Anatomical structure FMA:67135 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. fma FMA:67498 Organ FMA:67498 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. Principal body part subdivision fma FMA:67504 Subdivision of cardinal body part FMA:67504 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. fma FMA:67552 Anatomical cavity FMA:67552 Organ with organ cavity which is continuous superiorly with the pharynx and inferiorly with the stomach. Examples: There is only one esophagus. Gullet fma FMA:7131 Esophagus FMA:7131 Organ with organ cavity which is continuous proximally with the esophagus and distally with the small intestine. Examples: There is only one stomach. fma FMA:7148 Stomach FMA:7148 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. Neck (volume) fma FMA:7155 Neck FMA:7155 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. Skin of body fma FMA:7163 Skin FMA:7163 Organ with organ cavity which is continuous proximally with the stomach and distally with the large intestine. Examples: There is only one small intestine. Small bowel fma FMA:7200 Small intestine FMA:7200 Organ with organ cavity which is continuous proximally with the small intestine and distally with the anal canal. Examples: There is only large intestine. Large bowel fma FMA:7201 Large intestine FMA:7201 fma FMA:74560 Plantar FMA:74560 Anal canal mucosa Anal mucosa Anal mucous membrane Mucous membrane of anal canal fma FMA:74654 Mucosa of anal canal FMA:74654 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. fma FMA:82472 Cardinal organ part FMA:82472 fma FMA:82485 Organ component layer FMA:82485 Mucosa of organ Mucous membrane Organ mucosa fma FMA:85355 Mucosa FMA:85355 fma FMA:85361 Viscerocranial mucosa organ part FMA:85361 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. Chest fma FMA:9576 Thorax FMA:9576 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. Abdominopelvic region Abdominopelvis fma FMA:9577 Abdomen FMA:9577 Pia mater of neuraxis fma FMA:9590 Pia mater FMA:9590 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. Digit of hand Digitus manus fma FMA:9666 Finger FMA:9666 A phenotypic abnormality. UMLS:C4021819 Organ abnormality human_phenotype HP:0000118 This is the root of the phenotypic abnormality subontology of the HPO. Phenotypic abnormality HP:0000118 An abnormality of the nose. SNOMEDCT_US:128274005 SNOMEDCT_US:72089000 UMLS:C0240547 UMLS:C0265736 UMLS:C2235909 Abnormality of the nose Anomaly of the nose Nasal abnormality Nasal anomaly Deformity of the nose Malformation of the nose Nasal deformity Nasal malformation human_phenotype HP:0000366 Abnormality of the nose HP:0000366 Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. COHD:318556 EFO:0003895 ICD10:R04.0 ICD9:784.7 MSH:D004844 NCIT:C26766 SNOMEDCT_US:12441001 SNOMEDCT_US:249366005 UMLS:C0014591 Bloody nose Frequent nosebleeds Nasal hemorrhage Nose bleed Nose bleeding Nosebleed human_phenotype HP:0000421 Epistaxis HP:0000421 Any abnormality of the eye, including location, spacing, and intraocular abnormalities. MSH:D005124 MSH:D005128 SNOMEDCT_US:19416009 SNOMEDCT_US:371405004 SNOMEDCT_US:371409005 UMLS:C0015393 UMLS:C0015397 Abnormal eye Abnormality of the eye human_phenotype Eye disease HP:0000478 Abnormality of the eye HP:0000478 Abnormality of eyesight (visual perception). UMLS:C4025846 Abnormality of sight Abnormality of vision Vision issue human_phenotype HP:0000504 Abnormality of vision HP:0000504 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. HP:0000516 HP:0000566 HP:0007758 HP:0007860 HP:0007983 MSH:D014786 MSH:D015354 SNOMEDCT_US:246635007 SNOMEDCT_US:397540003 SNOMEDCT_US:7973008 UMLS:C0042798 UMLS:C3665347 Impaired vision Loss of eyesight Poor vision Visual impairment human_phenotype HP:0000505 Visual impairment HP:0000505 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). SNOMEDCT_US:7973008 UMLS:C3665386 Loss of vision Vision loss Visual loss human_phenotype HP:0000572 Visual loss HP:0000572 An abnormality of the pupil. HP:0008018 HP:0030960 SNOMEDCT_US:274093008 UMLS:C0154936 Abnormal pupillary morphology Abnormality of the pupil Pupillary abnormalities Pupillary abnormality human_phenotype HP:0000615 Abnormal pupil morphology HP:0000615 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. HP:0007839 Fyler:4866 MSH:D001766 SNOMEDCT_US:65956007 UMLS:C0271215 UMLS:C0456909 Blindness Total vision loss human_phenotype Legal blindness HP:0000618 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. Blindness HP:0000618 Lack of sharpness of vision resulting in the inability to see fine detail. HP:0007723 SNOMEDCT_US:111516008 SNOMEDCT_US:246636008 UMLS:C0344232 Blurred vision human_phenotype HP:0000622 This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. Blurred vision HP:0000622 Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. MSH:D000550 SNOMEDCT_US:387742006 UMLS:C0002418 Lazy eye Wandering eye Wandering eyes human_phenotype HP:0000646 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. Amblyopia HP:0000646 An abnormality of the skin. HP:0001478 HP:0001479 HP:0005591 HP:0006736 HP:0007415 HP:0007580 MSH:D012868 MSH:D012871 SNOMEDCT_US:199879009 SNOMEDCT_US:95320005 UMLS:C0037268 UMLS:C0037274 Abnormality of the skin dermatopathy dermopathy human_phenotype Skin abnormality HP:0000951 Abnormality of the skin HP:0000951 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. MSH:D011537 SNOMEDCT_US:279333002 SNOMEDCT_US:418290006 SNOMEDCT_US:418363000 SNOMEDCT_US:424492005 UMLS:C0033774 Itching Itchy skin Skin itching pruritis human_phenotype HP:0000989 Pruritus HP:0000989 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. Noncancerous mole MSH:D009508 SNOMEDCT_US:21119008 SNOMEDCT_US:400096001 UMLS:C0027962 UMLS:C4280269 Beauty mark Melanocytic naevus Melanocytic nevi Nevocellular nevi Pigmented naevi Pigmented nevi human_phenotype HP:0000995 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. Melanocytic nevus HP:0000995 Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. Sudden decrease in vision UMLS:C4025803 UMLS:C4072828 UMLS:C4280600 human_phenotype Sudden central visual loss HP:0001117 Sudden loss of visual acuity HP:0001117 SNOMEDCT_US:12184005 UMLS:C3887875 Partial loss of field of vision Visual field defects human_phenotype HP:0001123 Visual field defect HP:0001123 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. HP:0007887 HP:0007981 SNOMEDCT_US:1151008 SNOMEDCT_US:267628004 UMLS:C0235095 Concentric narrowing of visual field Constricted visual field Constricted visual fields Limited peripheral vision Visual field constriction human_phenotype HP:0001133 Constriction of peripheral visual field HP:0001133 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). HP:0007640 HP:0007842 HP:0007951 HP:0008023 SNOMEDCT_US:397541004 UMLS:C1301509 Marked vision impairment Severe reduction in visual acuity Severe vision loss Severe visual impairment Severe visual loss Severely impaired vision human_phenotype HP:0001141 Severely reduced visual acuity HP:0001141 Any abnormality of the cardiovascular system. MSH:D002318 MSH:D018376 SNOMEDCT_US:49601007 UMLS:C0007222 UMLS:C0243050 Abnormality of the cardiovascular system Cardiovascular abnormality human_phenotype Cardiovascular disease HP:0001626 The cardiovascular system consists of the heart, vasculature, and the lymphatic system. Abnormality of the cardiovascular system HP:0001626 Reduced ability to pass air through the nasal cavity often leading to mouth breathing. MSH:D015508 SNOMEDCT_US:232209000 SNOMEDCT_US:267100006 SNOMEDCT_US:68235000 UMLS:C0027424 UMLS:C0027429 Blockage of nose Nasal blockage Nasal obstruction Obstruction of nose Stuffy nose Congestion of nose Nasal congestion human_phenotype HP:0001742 Nasal obstruction HP:0001742 An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. HP:0004830 HP:0004834 HP:0004849 HP:0004862 HP:0004865 HP:0008183 SNOMEDCT_US:248250000 SNOMEDCT_US:64779008 UMLS:C1458140 Bleeding diathesis Bleeding tendency Hemorrhagic diathesis human_phenotype HP:0001892 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. Abnormal bleeding HP:0001892 This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). peter 2008-02-28T07:14:00Z UMLS:C0854107 Bleeding below the skin Subcutaneous haemorrhage human_phenotype HP:0001933 Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. Subcutaneous hemorrhage HP:0001933 An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. UMLS:C4018871 Respiratory abnormality human_phenotype HP:0002086 Abnormality of the respiratory system HP:0002086 Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. MSH:D006469 SNOMEDCT_US:66857006 SNOMEDCT_US:6686005 UMLS:C0019079 Coughing up blood Haemoptysis human_phenotype Coughing up blood or blood-stained mucus HP:0002105 Hemoptysis HP:0002105 Hemorrhage affecting the gastrointestinal tract. MSH:D006471 SNOMEDCT_US:74474003 UMLS:C0017181 GI hemorrhage Gastrointestinal bleeding Gastrointestinal haemorrhage human_phenotype HP:0002239 Gastrointestinal hemorrhage HP:0002239 The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. HP:0002255 HP:0002609 MSH:D006471 SNOMEDCT_US:236068001 SNOMEDCT_US:405729008 UMLS:C0018932 Rectal bleeding human_phenotype Recurrent rectal bleeding HP:0002573 Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. Hematochezia HP:0002573 A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. MSH:D009506 MSH:D009508 SNOMEDCT_US:21119008 SNOMEDCT_US:400096001 SNOMEDCT_US:51697005 UMLS:C0027960 UMLS:C0027962 Mole Naevus human_phenotype Naevi Nevi HP:0003764 The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole. Nevus HP:0003764 Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. HP:0005239 MSH:D007415 SNOMEDCT_US:81060008 UMLS:C0021843 Bowel obstruction Intestinal blockage Intestinal obstruction human_phenotype HP:0005214 Intestinal obstruction HP:0005214 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. HP:0005604 MSH:C536819 SNOMEDCT_US:10291008 SNOMEDCT_US:254815002 UMLS:C1842036 Giant pigmented hairy nevus Giant pigmented mole Giant pigmented nevus human_phenotype HP:0005600 Between 4% and 6% of these lesions will develop into a malignant melanoma. Congenital giant melanocytic nevus HP:0005600 UMLS:C3806415 human_phenotype HP:0005603 Numerous congenital melanocytic nevi HP:0005603 UMLS:C3805692 human_phenotype HP:0005606 Hyperpigmented nevi and streak HP:0005606 UMLS:C0746889 human_phenotype HP:0007481 Hyperpigmented nevi HP:0007481 HP:0001091 HP:0007693 HP:0007739 HP:0007969 HP:0008008 SNOMEDCT_US:13164000 UMLS:C0234632 Decreased central vision Decreased clarity of vision Decreased visual acuity Poor visual acuity human_phenotype HP:0007663 Reduced visual acuity HP:0007663 Blindness with onset at birth. HP:0007706 SNOMEDCT_US:95486002 UMLS:C0005754 Blindness present at birth Congenital amaurosis human_phenotype HP:0007875 Congenital blindness HP:0007875 UMLS:C4024760 human_phenotype HP:0007987 Progressive visual field defects HP:0007987 Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. SNOMEDCT_US:420990001 UMLS:C0241688 UMLS:C2937228 Kalnienk vision Loss of peripheral vision human_phenotype Tunnel vision HP:0007994 Peripheral visual field loss HP:0007994 An abnormality of the gastrointestinal tract. peter 2011-03-01T07:52:06Z MSH:D004066 MSH:D005767 SNOMEDCT_US:119292006 SNOMEDCT_US:25374005 SNOMEDCT_US:53619000 UMLS:C0012242 UMLS:C0017178 UMLS:C4023588 Abnormality of the GI tract Abnormality of the gastrointestinal tract human_phenotype Digestive system disease Gastrointestinal disease HP:0011024 Abnormality of the gastrointestinal tract HP:0011024 The presence of hemorrhage within the body. peter 2011-03-03T10:26:26Z UMLS:C1390214 Internal bleeding Internal haemorrhage human_phenotype HP:0011029 Internal hemorrhage HP:0011029 Any morphological abnormality of the skin. peter 2011-06-12T10:03:23Z Fyler:4133 UMLS:C4023528 Abnormal skin morphology Abnormal skin structure human_phenotype HP:0011121 Abnormality of skin morphology HP:0011121 peter 2011-12-29T08:52:53Z MSH:D017445 SNOMEDCT_US:11263005 UMLS:C0162819 UMLS:C1842892 Skin vascular malformation human_phenotype Vascular abnormalities restricted to skin HP:0011276 Vascular skin abnormality HP:0011276 An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. peter 2013-12-15T09:38:08Z MSH:D010146 SNOMEDCT_US:22253000 UMLS:C0030193 Pain human_phenotype HP:0012531 Pain HP:0012531 Abnormal structure of the gastrointestinal tract. peter 2014-03-23T01:09:02Z UMLS:C4021073 Abnormal shape of the digestive system Morphological abnormality of the GI tract Morphological anomaly of the digestive system human_phenotype HP:0012718 Morphological abnormality of the gastrointestinal tract HP:0012718 Abnormal functionality of the gastrointestinal tract. peter 2014-03-23T01:10:47Z UMLS:C4022755 Functional abnormality of the GI tract GI dysfunction human_phenotype HP:0012719 Functional abnormality of the gastrointestinal tract HP:0012719 A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. peter 2014-03-23T03:19:50Z MSH:D003371 SNOMEDCT_US:263731006 SNOMEDCT_US:272039006 SNOMEDCT_US:49727002 UMLS:C0010200 Cough Coughing human_phenotype HP:0012735 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. Cough HP:0012735 HP:0025031 2016-08-27T13:44:32Z HPO:probinson 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 HP:0025032 A functional anomaly of the digestive system. 2016-08-27T13:58:05Z HPO:probinson Abnormality of digestive system physiology HP:0030515 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). SNOMEDCT_US:397542006 UMLS:C1301510 Moderate reduction in visual acuity Moderate vision loss Moderate visual impairment Moderate visual loss Moderately reduced visual acuity HP:0030522 A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians. UMLS:C4072999 Mild peripheral visual field loss Mild constriction of peripheral visual field HP:0030525 Peripheral visual field constriction with 20-49 degrees binocular visual field preserved. HP:0030523 HP:0030524 UMLS:C4073002 Moderate peripheral visual field loss Moderate constriction of peripheral visual field HP:0030526 Peripheral visual field constriction with 10-19 degrees central field preserved. UMLS:C4073003 Severe peripheral visual field loss Severe constriction of peripheral visual field HP:0030527 Peripheral visual field constriction with <10 degrees central field preserved. UMLS:C4073004 Very severe peripheral visual field loss Very severe constriction of peripheral visual field HP:0030531 UMLS:C4073005 Altitudinal visual field defect HP:0030532 UMLS:C4073006 Visual acuity test abnormality HP:0030533 UMLS:C4073007 Abnormal unaided visual acuity test HP:0030534 UMLS:C4073008 Abnormal best corrected visual acuity test HP:0030535 UMLS:C4073009 Abnormal pinhole visual acuity test HP:0030536 UMLS:C4073010 Unaided visual acuity 0.1 LogMAR HP:0030537 UMLS:C4073011 Unaided visual acuity 0.2 LogMAR HP:0030538 UMLS:C4073012 Unaided visual acuity 0.3 LogMAR HP:0030539 UMLS:C4073013 Unaided visual acuity 0.4 LogMAR HP:0030540 UMLS:C4073014 Unaided visual acuity 0.5 LogMAR HP:0030541 UMLS:C4073015 Unaided visual acuity 0.6 LogMAR HP:0030542 UMLS:C4073016 Unaided visual acuity 0.7 LogMAR HP:0030543 UMLS:C4073017 Unaided visual acuity 0.8 LogMAR HP:0030544 UMLS:C4073018 Unaided visual acuity 0.9 LogMAR HP:0030545 UMLS:C4073019 Unaided visual acuity 1.0 LogMAR HP:0030546 UMLS:C4073020 Unaided visual acuity 1.1 LogMAR HP:0030547 UMLS:C4073021 Unaided visual acuity 1.2 LogMAR HP:0030548 UMLS:C4073022 Unaided visual acuity 1.3 LogMAR HP:0030549 UMLS:C4073023 Unaided visual acuity 2.0 LogMAR HP:0030550 UMLS:C4073024 Unaided visual acuity 3.0 LogMAR HP:0030551 UMLS:C4073025 Visual acuity light perception with projection HP:0030552 UMLS:C4073026 Visual acuity light perception without projection HP:0030553 SNOMEDCT_US:63063006 UMLS:C0442774 Visual acuity no light perception HP:0030554 UMLS:C4073027 Best corrected visual acuity 0.1 LogMAR HP:0030555 UMLS:C4073028 Best corrected visual acuity 0.2 LogMAR HP:0030556 UMLS:C4073029 Best corrected visual acuity 0.3 LogMAR HP:0030557 UMLS:C4073030 Best corrected visual acuity 0.4 LogMAR HP:0030558 UMLS:C4073031 Best corrected visual acuity 0.5 LogMAR HP:0030559 UMLS:C4073032 Best corrected visual acuity 0.7 LogMAR HP:0030560 UMLS:C4073033 Best corrected visual acuity 0.6 LogMAR HP:0030561 UMLS:C4073034 Best corrected visual acuity 0.8 LogMAR HP:0030562 UMLS:C4073035 Best corrected visual acuity 0.9 LogMAR HP:0030563 UMLS:C4073036 Best corrected visual acuity 1.0 LogMAR HP:0030564 UMLS:C4073037 Best corrected visual acuity 1.1 LogMAR HP:0030565 UMLS:C4073038 Best corrected visual acuity 1.2 LogMAR HP:0030566 UMLS:C4073039 Best corrected visual acuity 1.3 LogMAR HP:0030567 UMLS:C4073040 Best corrected visual acuity 2.0 LogMAR HP:0030568 UMLS:C4073041 Best corrected visual acuity 3.0 LogMAR HP:0030569 UMLS:C4073042 Pinhole visual acuity 0.1 LogMAR HP:0030570 UMLS:C4073043 Pinhole visual acuity 0.2 LogMAR HP:0030571 UMLS:C4073044 Pinhole visual acuity 0.3 LogMAR HP:0030572 UMLS:C4073045 Pinhole visual acuity 0.4 LogMAR HP:0030573 UMLS:C4073046 Pinhole visual acuity 0.5 LogMAR HP:0030574 UMLS:C4073047 Pinhole visual acuity 0.6 LogMAR HP:0030575 UMLS:C4073048 Pinhole visual acuity 0.7 LogMAR HP:0030576 UMLS:C4073049 Pinhole visual acuity 0.8 LogMAR HP:0030577 UMLS:C4073050 Pinhole visual acuity 0.9 LogMAR HP:0030578 UMLS:C4073051 Pinhole visual acuity 1.0 LogMAR HP:0030579 UMLS:C4073052 Pinhole visual acuity 1.1 LogMAR HP:0030580 UMLS:C4073053 Pinhole visual acuity 1.2 LogMAR HP:0030581 UMLS:C4073054 Pinhole visual acuity 1.3 LogMAR HP:0030582 UMLS:C4073055 Pinhole visual acuity 2.0 LogMAR HP:0030583 UMLS:C4073056 Pinhole visual acuity 3.0 LogMAR HP:0031364 A purpuric lesion that is larger than 1 cm in diameter. 2017-08-29T12:32:57Z peter Ecchymoses Ecchymosis HP:0032037 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). 2018-09-01T15:45:56Z peter Mild reduction in visual acuity Mild vision loss Mild visual loss 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. Mildly reduced visual acuity HP:0032122 A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590). 2018-11-18T14:04:38Z peter Very low visual acuity HP:0032123 Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590). 2018-11-18T14:06:19Z peter Ultra-low vision HP:0032284 Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm). 2019-02-10T13:52:59Z peter Ultra-low vision with retained motion projection HP:0032285 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. 2019-02-10T13:53:42Z peter Ultra-low vision with retained light projection HP:0032286 Ultra-low vision but with retained ability to perceive the difference between light and dark. 2019-02-10T13:54:32Z peter Ultra-low vision with retained light perception HP:0032287 Ultra-low vision with complete lack of light and form perception. 2019-02-10T13:55:07Z peter Ultra-low vision with no light perception doelkens 2011-06-09T02:15:28Z MSH:D049328 SNOMEDCT_US:40467008 UMLS:C0265985 UMLS:C4020699 Mongolian spot human_phenotype Congenital dermal melanocytosis HP:0100814 Blue nevus HP:0100814 MER:0000001 melanoma ontology NCIT:C105784 A surgical procedure in which the axillary lymph node group is dissected and removed without prior removal and examination of the sentinel lymph node. C105784 Health Care Activity Axillary Lymph Node Dissection without Prior Sentinel Lymph Node Biopsy C3831427 Axillary Lymph Node Dissection without Prior Sentinel Lymph Node Biopsy Axillary Lymph Node Dissection without Prior Sentinel Lymph Node Biopsy NCIT:C105823 A change in the valine at position 600 of the serine/threonine-protein kinase B-raf protein to another amino acid. C105823 Cell or Molecular Dysfunction BRAF NP_004324.2:p.V600X BRAF NP_004324.2:p.V600X C3812172 CPTAC CTEP CTRP BRAF Codon 600 Mutation BRAF NP_004324.2:p.V600X BRAF NP_004324.2:p.Val600 Mutation BRAF NP_004324.2:p.Val600Xxx BRAF V600 Mutation BRAF V600 Protein Variation BRAF V600X BRAF p.V600 Mutation BRAF p.V600X BRAF p.Val600 Mutation BRAF p.Val600Xxx NP_004324.2:p.V600 Mutation NP_004324.2:p.V600X NP_004324.2:p.Val600 Mutation NP_004324.2:p.Val600Xxx Other BRAF V600 mutation 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 BRAF NP_004324.2:p.V600X NCIT:C116433 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. C116433 Therapeutic or Preventive Procedure Palliative Radiation Therapy Palliative Radiation Therapy CL421682 CTRP Palliative Radiation Therapy Palliative Radiation Therapy NCIT:C116540 Any treatment modality that exercises its effects by inducing, enhancing, or suppressing an immune response. C116540 Therapeutic or Preventive Procedure Immunomodulation Therapy Immunomodulation Therapy C1963758 CTRP Immunomodulation Therapy Immunomodulation Therapy NCIT:C118544 Dissection of the lymph nodes that surround the thyroid gland. C118544 Therapeutic or Preventive Procedure Central Lymph Node Dissection Central Lymph Node Dissection CL388451 CTRP Central Lymph Node Dissection Central Lymph Node Dissection NCIT:C118618 Systemic chemotherapy with a multiple agent regimen. All routes of administration are acceptable as long as the regimen is intended for systemic therapy. C118618 Therapeutic or Preventive Procedure Multiple Agent Systemic Chemotherapy C0854615 Systemic chemotherapy with a regimen containing multiple agents. Chemotherapy multiple agents systemic Multiple Agent Systemic Chemotherapy Multiple Agent Systemic Chemotherapy NCIT:C120282 A staging procedure consisting of sentinel node biopsy followed by surgical evaluation of the axillary lymph nodes. C120282 Diagnostic Procedure Sentinel Lymph Node Biopsy Followed by Axillary Lymph Node Biopsy C3897644 Sentinel Lymph Node Biopsy Followed by Axillary Lymph Node Biopsy Sentinel node biopsy followed by surgical evaluation of axilla Sentinel Lymph Node Biopsy Followed by Axillary Lymph Node Biopsy NCIT:C120287 Lymph node dissection of at least 6 axillary lymph nodes. C120287 Diagnostic Procedure Minimum of 6 Axillary Nodes C3898304 Minimum of 6 Axillary Nodes With a minimum of 6 axillary nodes Minimum of 6 Axillary Nodes NCIT:C128037 A monoclonal antibody directed against programmed cell death protein 1 (PD-1; PD1; CD279). C128037 Chemical Viewed Structurally Pharmacologic Substance Anti-PD1 Monoclonal Antibody CL509685 Anti-PD-1 Monoclonal Antibody Anti-PD1 Monoclonal Antibody Anti-PD1 Monoclonal Antibody NCIT:C129821 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. C129821 Pharmacologic Substance Antineoplastic Biological Agent Antineoplastic Biological Agent CL512906 CTRP Anti-cancer Biological Agent Anticancer Biological Antineoplastic Biological Antineoplastic Biological Agent Antineoplastic Biotherapeutic Antineoplastic Biological Agent NCIT:C129825 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. C129825 Pharmacologic Substance Antineoplastic Enzyme Inhibitor CL512907 Anti-cancer Enzyme Inhibitor Antineoplastic Enzyme Inhibitor Antineoplastic Enzyme Inhibitor NCIT:C131672 Surgical removal of an entire visible lesion, with no obvious lesion detected on post-operative evaluation; microscopic residual disease may be present. C131672 Therapeutic or Preventive Procedure Gross Total Resection CL514299 CPTAC GDC NICHD Surgical removal of an entire visible lesion, with no obvious lesion detected on post-operative evaluation; microscopic residual disease may be present. Gross Total Resection Gross Total Resection Gross Total Resection Gross Total Resection NCIT:C136289 A surgical procedure in which a single or multiple para-aortic lymph nodes are removed for microscopic examination. C136289 Diagnostic Procedure Para-Aortic Lymph Node Biopsy C0585092 NCCN Para-Aortic Lymph Node Biopsy Para-Aortic Lymph Node Sampling Para-Aortic Lymph Node Biopsy NCIT:C136425 A change in the nucleotide sequence in a RAF family gene. C136425 Cell or Molecular Dysfunction RAF Family Gene Mutation RAF Family Gene Mutation CL523728 CTRP Mutant RAF Mutant RAF Family Gene RAF Family Gene Mutation RAF Family Mutation RAF Mutation RAF Family Gene Mutation NCIT:C137934 Removal or sampling of lymph nodes in the mediastinum. C137934 Diagnostic Procedure Mediastinal Lymph Node Biopsy C0398435 NCCN Mediastinal Lymph Node Biopsy Mediastinal Lymph Node Biopsy NCIT:C137935 Removal or sampling of lymph nodes in the supraclavicular area. C137935 Diagnostic Procedure Supraclavicular Lymph Node Biopsy C1300768 NCCN Supraclavicular Lymph Node Biopsy Supraclavicular Lymph Node Biopsy NCIT:C139566 A surgical procedure in which all or most all of the lymph nodes are removed from the mediastinum. C139566 Health Care Activity Mediastinal Lymph Node Dissection Mediastinal Lymph Node Dissection CL526891 CTRP Mediastinal Lymph Node Dissection Mediastinal Lymph Node Dissection NCIT:C139751 A surgical procedure in which a single or multiple mediastinal lymph nodes are removed for microscopic examination. C139751 Diagnostic Procedure Mediastinal Lymph Node Sampling C0398421 NCCN Mediastinal Lymph Node Sampling Mediastinal Lymph Node Sampling NCIT:C1404 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. C1404 Chemical Viewed Functionally Protein Kinase Inhibitor Protein Kinase Inhibitor C1449702 CTRP Protein_Kinase_Inhibitor CHEBI:37699 Protein Kinase Inhibitor Protein Kinase Inhibitor NCIT:C146855 Surgical treatment undertaken after failure of initial surgery or failure of other modalities. C146855 Therapeutic or Preventive Procedure Salvage Surgery Salvage Surgery CL544837 CTRP Rescue Surgery Salvage Resection Salvage Surgery Salvage Surgical Resection Surgical Salvage Salvage Surgery NCIT:C148433 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. C148433 Therapeutic or Preventive Procedure Percutaneous Hepatic Perfusion Percutaneous Hepatic Perfusion CL550987 CTRP Percutaneous Hepatic Perfusion Percutaneous Hepatic Perfusion NCIT:C148527 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. C148527 Therapeutic or Preventive Procedure Bilateral Modified Radical Neck Dissection C0193866 CPTAC Bilateral Modified Radical Neck Dissection Functional (Limited) Neck Dissection Functional Bilateral Neck Dissection Bilateral Modified Radical Neck Dissection NCIT:C15189 The removal of tissue specimens or fluid from the living body for microscopic examination, performed to establish a diagnosis. C15189 Diagnostic Procedure Biopsy Biopsy C0005558 CDISC CTRP GDC 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 tissue specimens or fluid from the living body for microscopic examination, performed to establish a diagnosis. Biopsy Biopsy BIOPSY Biopsy Bx biopsy Biopsy NCIT:C15190 The removal of a tissue sample using a needle, for microscopic examination. C15190 Diagnostic Procedure Needle Biopsy Needle Biopsy C0005560 CTRP GDC 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. Needle_Biopsy Needle Biopsy Aspiration Biopsy Needle Biopsy Puncture Biopsy needle biopsy Needle Biopsy NCIT:C15220 The investigation, analysis and recognition of the presence and nature of disease, condition, or injury from expressed signs and symptoms; also, the scientific determination of any kind; the concise results of such an investigation. C15220 Diagnostic Procedure Diagnosis C0011900 CDISC GDC NICHD 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. Diagnosis Diagnosis Diagnosis DIAGNOSIS Diagnosed Diagnosis Diagnostic Dx diagnosis Diagnosis NCIT:C15232 The act of cutting out; the surgical removal of part or all of a structure or organ. C15232 Health Care Activity Excision Excision C0728940 CDISC CTRP GDC Removal by surgery. The act of cutting out; the surgical removal of part or all of a structure or organ. (NCI) Excision Surgical Resection Abscission EXCISION Excision Excisional Extirpation Removal Resection Surgical Removal Surgical Resection excision resection Excision NCIT:C15262 Therapy designed to induce changes in a patient's immune status in order to treat disease. C15262 Therapeutic or Preventive Procedure Immunotherapy Immunotherapy C0021083 CDISC CPTAC CTRP 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. Immunotherapy Immunotherapy (Including Vaccines) 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. IMMUNOTHERAPY Immunological Immunological Therapy Immunologically Directed Therapy Immunotherapy immunotherapy Immunotherapy NCIT:C15275 Surgical removal of lymph nodes, usually done to assess the spread of cancer. C15275 Health Care Activity Lymphadenectomy Lymphadenectomy C0024203 CTRP 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. Lymphadenectomy Lymph Node Dissection Lymphadenectomy excision of the lymph node lymph node dissection lymph node excision lymphadenectomy Lymphadenectomy NCIT:C15295 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. C15295 Therapeutic or Preventive Procedure Chemotherapeutic Perfusion Chemotherapeutic Perfusion C0031001 CTRP 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. Perfusion Chemotherapeutic Perfusion Perfusion perfusion Chemotherapeutic Perfusion NCIT:C15296 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. C15296 Therapeutic or Preventive Procedure Isolated Chemotherapeutic Perfusion C0031006 Isolated_Perfusion Isolated Chemotherapeutic Perfusion perfusion, isolated Isolated Chemotherapeutic Perfusion NCIT:C15313 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. C15313 Therapeutic or Preventive Procedure Radiation Therapy Radiation Therapy C1522449 CDISC CPTAC CTRP GDC 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. Radiation_Therapy Radiation Therapy, NOS Cancer Radiotherapy Irradiate Irradiated Irradiation RADIATION RADIOTHERAPY RT Radiation Radiation Therapy Radiation Therapy, NOS Radiotherapeutics Radiotherapy Therapy, Radiation irradiated irradiation radiation therapy radiotherapy Radiation Therapy NCIT:C15329 A diagnostic or treatment procedure performed by manual and/or instrumental means, often involving an incision and the removal or replacement of a diseased organ or tissue; of or relating to or involving or used in surgery or requiring or amenable to treatment by surgery. C15329 Health Care Activity Surgical Procedure Surgical Procedure C0543467 CPTAC CTRP GDC NICHD A procedure to remove or repair a part of the body or to find out whether disease is present. An operation. Surgical_Procedure Surgical Procedure Surgery Surgically Treated Operation Surgery Surgical Surgical Interventions Surgical Procedure Surgical Procedures Surgically Type of Surgery surgery Surgical Procedure NCIT:C15355 Treatment with a radioactive substance that is linked to an antibody so that it will attach to a tumor when injected into the body. C15355 Therapeutic or Preventive Procedure Radioimmunotherapy Radioimmunotherapy C0085101 CTRP 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. Radioimmunotherapy Immunoradiotherapy Immunotherapy, Cancer, Radioisotope Radioimmunotherapy radioimmunotherapeutics radioimmunotherapy Radioimmunotherapy NCIT:C15385 A surgical procedure in which an entire lesion is removed for microscopic examination. C15385 Diagnostic Procedure Excisional Biopsy C0184921 CPTAC GDC A surgical procedure in which an entire lump or suspicious area is removed for diagnosis. The tissue is then examined under a microscope. Excisional_Biopsy Excisional Biopsy Excisional Biopsy Excisional biopsy excisional biopsy surgical biopsy Excisional Biopsy NCIT:C15386 A surgical procedure in which part of a lesion is removed for microscopic examination. C15386 Diagnostic Procedure Incisional Biopsy C0184922 CPTAC GDC 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. Incisional_Biopsy Incisional Biopsy Incisional Biopsy Open Biopsy incisional biopsy open biopsy Incisional Biopsy NCIT:C15393 C15393 Therapeutic or Preventive Procedure Isolated Chemotherapeutic Limb Perfusion Isolated Chemotherapeutic Limb Perfusion C0396670 CTRP GDC 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. Limb_Perfusion Isolated Limb Perfusion (ILP) Isolated Chemotherapeutic Limb Perfusion Isolated Limb Perfusion (ILP) Limb Perfusion isolated limb infusion isolated limb perfusion limb perfusion Isolated Chemotherapeutic Limb Perfusion NCIT:C15438 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. C15438 Therapeutic or Preventive Procedure Cancer Immunotherapy C0278348 Cancer_Immunotherapy Cancer Immunotherapy Immuno-Chemotherapy Immunotherapy, Cancer, General immunotherapy for cancer Cancer Immunotherapy NCIT:C155322 Any agent that inhibits the serine/threonine-protein kinase BRAF(B-RAF). C155322 Pharmacologic Substance BRAF Inhibitor BRAF Inhibitor CL556869 CTRP B-RAF Inhibitor BRAF Inhibitor BRAF Inhibitor NCIT:C15581 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. C15581 Therapeutic or Preventive Procedure Intraperitoneal Chemotherapy C0281548 Treatment in which anticancer drugs are put directly into the abdominal cavity through a thin tube. Intraperitoneal_Therapy Intraperitoneal Chemotherapy Intraperitoneal Therapy intraperitoneal chemotherapy Intraperitoneal Chemotherapy NCIT:C15607 A diagnosis made from a study of the signs and symptoms of a disease. C15607 Idea or Concept Clinical Diagnosis C0332140 Clinical_Diagnosis Clinical Diagnosis Clinical Diagnosis NCIT:C15632 The use of synthetic or naturally-occurring chemicals for the treatment of diseases. C15632 Therapeutic or Preventive Procedure Chemotherapy Chemotherapy C0392920 CDISC CPTAC CTRP GDC 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. The use of synthetic or naturally-occurring chemicals for the treatment of diseases. Treatment with anticancer drugs. Chemotherapy Chemotherapy 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. CHEMOTHERAPY Chemo Chemotherapy Chemotherapy (NOS) Chemotherapy, Cancer, General chemotherapy Chemotherapy NCIT:C15643 C15643 Therapeutic or Preventive Procedure Neck Dissection Neck Dissection C0398395 CTRP Surgery to remove lymph nodes and other tissues in the neck. Neck_Dissection Neck Dissection neck dissection Neck Dissection NCIT:C15667 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. C15667 Diagnostic Procedure Sentinel Lymph Node Biopsy Sentinel Lymph Node Biopsy C0796693 CTRP 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. Sentinel_Lymph_Node_Biopsy SLNB SNB Sentinel Lymph Node Biopsy Sentinel Node Biopsy Sentinel node biopsy alone sentinel lymph node biopsy Sentinel Lymph Node Biopsy NCIT:C15677 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. C15677 Health Care Activity Axillary Lymph Node Dissection Axillary Lymph Node Dissection C0193867 CTRP Surgery to remove lymph nodes found in the armpit region. Axillary_Lymph_Node_Dissection ALND Axillary Dissection Axillary Lymph Node Dissection Axillary Lymphadenectomy Axillary Node Dissection Excision Axillary Lymph Nodes axillary dissection axillary lymph node dissection Axillary Lymph Node Dissection NCIT:C15683 C15683 Therapeutic or Preventive Procedure Epidural Chemotherapy C1526986 Epidural Epidural Chemotherapy Epidural Chemotherapy NCIT:C15684 C15684 Therapeutic or Preventive Procedure Chemotherapeutic Hyperthermic Perfusion C1512558 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. Hyperthermic_Perfusion Chemotherapeutic Hyperthermic Perfusion hyperthermic perfusion Chemotherapeutic Hyperthermic Perfusion NCIT:C15686 C15686 Therapeutic or Preventive Procedure Isolated Chemotherapeutic Hepatic Perfusion C1517606 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. Isolated_Hepatic_Perfusion Isolated Chemotherapeutic Hepatic Perfusion isolated hepatic perfusion Isolated Chemotherapeutic Hepatic Perfusion NCIT:C15687 Any therapeutic procedure that targets, or is restricted to, a specific anatomical location. C15687 Therapeutic or Preventive Procedure Local Therapy Local Therapy C1517925 CTRP Treatment that affects cells in the tumor and the area close to it. Local_Therapy Local Therapy Localized Therapy local therapy Local Therapy NCIT:C15730 C15730 Therapeutic or Preventive Procedure Chemotherapeutic Peritoneal Perfusion C1519011 A method of delivering fluids and drugs directly to tumors in the peritoneal cavity. Peritoneal_Perfusion Chemotherapeutic Peritoneal Perfusion peritoneal perfusion Chemotherapeutic Peritoneal Perfusion NCIT:C15732 C15732 Therapeutic or Preventive Procedure Continuous Chemotherapeutic Hyperthermic Peritoneal Perfusion C1511496 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 CHPP Continuous Chemotherapeutic Hyperthermic Peritoneal Perfusion continuous hyperthermic peritoneal perfusion Continuous Chemotherapeutic Hyperthermic Peritoneal Perfusion NCIT:C15750 C15750 Therapeutic or Preventive Procedure Intrathecal Chemotherapy C1517560 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. Intrathecal_Chemotherapy Intrathecal Chemotherapy intrathecal chemotherapy Intrathecal Chemotherapy NCIT:C15751 Radiation therapy in which high-energy beams are delivered to the tumor from outside of the body. C15751 Therapeutic or Preventive Procedure External Beam Radiation Therapy External Beam Radiation Therapy C0419095 CDISC CTRP GDC 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. External_Beam_Radiation External Beam Radiation Radiation, External Beam Definitive Radiation Therapy EBRT EXTERNAL BEAM RADIATION THERAPY External Beam RT External Beam Radiation External Beam Radiation Therapy External Beam Radiotherapy External Radiation Therapy Radiation, External Beam external radiation external-beam radiation External Beam Radiation Therapy NCIT:C15756 Systemic chemotherapy with a single agent regimen. All routes of administration are acceptable as long as the agent is intended for systemic therapy. C15756 Clinical Attribute Single Agent Systemic Chemotherapy C0854619 Systemic chemotherapy with a single agent regimen. Single_Agent_Systemic_Chemotherapy Chemotherapy Single Agent Systemic Chemotherapy single agent systemic Single Agent Systemic Chemotherapy Single Agent Systemic Chemotherapy NCIT:C15776 The act of discovery of a malignant neoplasm, and after treatment, the discovery of minimal residual disease. C15776 Diagnostic Procedure Cancer Detection C1516193 Cancer_Detection Cancer Detection Cancer Detection NCIT:C15795 The discovery of a tumor or cancer after primary, potentially curative therapy. C15795 Diagnostic Procedure Detection of Minimal Residual Disease C1511791 Detection_of_Minimal_Residual_Disease Detection of Minimal Residual Disease Detection of Minimal Residual Disease NCIT:C158014 Medications that are applied to the skin for melanoma. C158014 Therapeutic or Preventive Procedure Topical Medications for Melanoma CL937558 CPTAC Topical Medications for Melanoma Topical Medications for Melanoma NCIT:C158015 Medications that are applied to the skin for non-melanoma lesions. C158015 Therapeutic or Preventive Procedure Topical Medications for Non-Melanoma CL937559 CPTAC Topical Medications for Non-Melanoma Topical Medications for Non-Melanoma NCIT:C15811 Radiotherapy using radioactive particles that deposit a low amount of energy by radiation per unit length of travel. C15811 Therapeutic or Preventive Procedure Low Dose Radiation Therapy C1518010 Low_Dose_Radiation Low Dose Radiation Low Dose Radiation Therapy Low Dose Radiation Therapy NCIT:C15842 A procedure that includes screening, diet and behavioral adjustments to prevent and/or detect the transformation of normal cells into cancerous lesions. C15842 Diagnostic Procedure Prevention, Early Detection of Premalignant Lesions C1514407 Prevention_Early_Detection_of_Premalignant_Lesions Prevention, Early Detection of Premalignant Lesions Prevention, Early Detection of Premalignant Lesions NCIT:C158854 A molecular genetic abnormality indicating the presence of a mutation in exon 15 of the BRAF gene. C158854 Cell or Molecular Dysfunction BRAF Exon 15 Mutation CPTAC B-RAF Exon 15 Mutation B-RAF1 Exon 15 Mutation BRAF Exon 15 Gene Mutation BRAF Exon 15 Mutation BRAF1 Exon 15 Mutation Exon 15 v-raf Murine Sarcoma Viral Oncogene Homolog B1 Exon 15 Mutation BRAF Exon 15 Mutation NCIT:C15912 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. C15912 Therapeutic or Preventive Procedure Regional Chemotherapy Regional Chemotherapy C1514818 CTRP Treatment with anticancer drugs directed to a specific area of the body. Regional_Chemotherapy Regional Chemotherapy regional chemotherapy Regional Chemotherapy NCIT:C15914 C15914 Therapeutic or Preventive Procedure Topical Chemotherapy C1519552 Treatment with anticancer drugs in a lotion or cream applied to the skin. Topical_Chemotherapy Topical Chemotherapy topical chemotherapy Topical Chemotherapy NCIT:C159444 Surgical removal of the inguinal, iliac, and obturator lymph nodes. C159444 Diagnostic Procedure Ilioinguinal Lymphadenectomy Ilioinguinal Lymphadenectomy Ilioinguinal Lymphadenectomy NCIT:C15975 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. C15975 Therapeutic or Preventive Procedure Chemical Cancer Immunotherapy C1516447 Chemical_Cancer_Immunotherapy Chemical Cancer Immunotherapy Immunotherapy, Cancer, Chemical chemical immunotherapy for cancer Chemical Cancer Immunotherapy NCIT:C15986 Treatment of disease through the use of drugs. C15986 Therapeutic or Preventive Procedure Pharmacotherapy C0013216 CPTAC GDC NICHD Treatment with any substance, other than food, that is used to prevent, diagnose, treat, or relieve symptoms of a disease or abnormal condition. Pharmacological_Treatment Drug Therapy Pharmaceutical Therapy, NOS Drug Therapy Pharmaceutical Therapy Pharmaceutical Therapy, NOS Pharmacological Treatment Pharmacological Treatments Pharmacotherapy Treatment With Medication drug therapy Pharmacotherapy NCIT:C16107 Methods of detection which do not require penetration of the body or body openings. C16107 Diagnostic Procedure Non-Invasive Cancer Detection C1518360 Non-Invasive_Cancer_Detection Non-Invasive Cancer Detection Non-Invasive Detection Non-Invasive Cancer Detection NCIT:C161314 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. C161314 Therapeutic or Preventive Procedure Robot-assisted Salvage Pelvic Lymph Node Dissection Robot-assisted Salvage Pelvic Lymph Node Dissection CTRP RoboInOwlt-assisted Salvage Pelvic Lymph Node Dissection Robot-assisted Salvage Pelvic Lymph Node Dissection NCIT:C161507 A procedure involving irradiation to a specific, limited area of the skin. C161507 Therapeutic or Preventive Procedure Focal Cutaneous Irradiation CDISC A procedure involving irradiation of a specific, limited area of the skin. CUTANEOUS IRRADIATION Focal Cutaneous Irradiation Focal Cutaneous Irradiation NCIT:C161601 A categorization of surgical procedures by type or purpose. C161601 Health Care Activity Surgical Procedure by Type Surgical Procedure by Type Surgical Procedure by Type NCIT:C16209 Use of a device, marker, or other means for the purpose of detecting the presence of a tumor early in its development. C16209 Diagnostic Procedure Early Detection CL448355 Early_Detection Early Detection Early Detection NCIT:C16210 The activity of perceiving, discerning, discovering or identifying. C16210 Diagnostic Procedure Detection C1511790 Detection Detected Detection Detection NCIT:C16213 General term for detecting and classifying cancer in patients. C16213 Diagnostic Procedure Cancer Diagnosis C0920688 Cancer_Diagnosis Cancer Diagnosis Cancer Diagnosis NCIT:C166163 Removal of one or more pelvic lymph nodes from both sides of the body. C166163 Therapeutic or Preventive Procedure Bilateral Pelvic Lymph Node Dissection Bilateral Pelvic Lymph Node Dissection Bilateral Pelvic Lymph Node Dissection NCIT:C16950 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. C16950 Diagnostic Procedure Palpation C0030247 CDISC 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. Palpation PALPATION Palpation palpation Palpation NCIT:C18020 Any procedure or test to diagnose a disease or disorder. C18020 Diagnostic Procedure Diagnostic Procedure Diagnostic Procedure C0430022 CTRP NICHD A specific test or series of steps done to help diagnose a disease or condition. Mammograms and colonscopies are examples of diagnostic procedures. Diagnostic_Procedure Diagnostic Procedure Other diagnostic procedures on breast Other diagnostic procedures on rectum, rectosigmoid and perirectal tissue Diagnostic Method Diagnostic Procedure Diagnostic Technique Diagnostic Test diagnostic procedure diagnostic technique Diagnostic Procedure NCIT:C1909 Any natural, endogenously-derived, synthetic or semi-synthetic compound with pharmacologic activity. A pharmacologic substance has one or more specific mechanism of action(s) through which it exerts one or more effect(s) on the human or animal body. They can be used to potentially prevent, diagnose, treat or relieve symptoms of a disease. Formulation specific agents and some combination agents are also classified as pharmacologic substances. C1909 Pharmacologic Substance Pharmacologic Substance C1254351 BRIDG CDISC CDISC-GLOSS FDA NICHD 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. Pharmacologic_Substance CHEBI:52217 Pharmacologic Substance This category represents ingredients, not drug products. Agent DRUG Drug Drug Substance Pharmaceutical Agent Pharmaceuticals Pharmacologic Agent Pharmacologic Substance Pharmacological Substance Product drug Pharmacologic Substance NCIT:C191 C191 Therapeutic or Preventive Procedure Combination Chemotherapy C1521750 Treatment using more than one anticancer drug. Combination_Chemotherapy Chemotherapy, Combination Combination Chemotherapy Combination Drug Therapy Drug Therapy, Combination combination chemotherapy Combination Chemotherapy NCIT:C20401 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. C20401 Amino Acid, Peptide, or Protein Monoclonal Antibody Monoclonal Antibody C0003250 CTRP 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. Monoclonal_Antibody MAb MoAB Monoclonal Antibodies Monoclonal Antibody Monoclonal Antibody Therapy monoclonal antibody Monoclonal Antibody NCIT:C20698 Use of a device, marker, or other means for the purpose of detecting the presence of a breast tumor early in its development. C20698 Diagnostic Procedure Breast Cancer Early Detection CL502478 Breast_Cancer_Early_Detection Breast Cancer Early Detection Early Detection of Breast Cancer Breast Cancer Early Detection NCIT:C20989 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. C20989 Diagnostic Procedure Physical Examination Physical Examination C0031809 CDISC CTRP GDC NICHD 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. Physical_Examination Physical Examination Physical Exam Assessment PHYSICAL EXAM PHYSICAL EXAMINATION Physical Physical Assessment Physical Exam Physical Examination assessment physical examination Physical Examination NCIT:C25218 An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects. C25218 Health Care Activity Intervention or Procedure C0184661 BRIDG CDISC-GLOSS NICHD 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. Procedure Intervention or Procedure Intervention Intervention Strategies Intervention or Procedure Interventional Procedure intervention interventionDescription Intervention or Procedure NCIT:C274 A substance that inhibits the maturation, growth or spread of tumor cells. C274 Chemical Viewed Functionally Antineoplastic Agent C0003392 A drug used to treat cancer. Antineoplastic_Agent CHEBI:35610 Anti-Cancer Agents Anti-Tumor Agents Anti-Tumor Drugs Antineoplastic Agent Antineoplastic Drugs Antineoplastics Antiproliferative Agents Antiproliferative Drugs Cancer Drug Chemotherapeutic Agents, Neoplastic Disease Tumor-Specific Treatment Agents antineoplastic chemotherapeutic agent Antineoplastic Agent NCIT:C307 Biotechnology-derived pharmaceutical agents made from living organisms or their products. Includes recombinant proteins, monoclonal antibodies, and nucleic acids. C307 Classification Biological Agent C0005522 BRIDG CDISC NICHD 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. Biological_Agent Biologic BIOLOGIC Biologic Biological Agent Biological Drug Biological Products Biologicals Biologics Biopharmaceuticals Immunologic, Immunochemical Immunologics biologic agent biological agent biological drug Biological Agent NCIT:C308 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. C308 Chemical Viewed Functionally Immunotherapeutic Agent Immunotherapeutic Agent C0005525 CTRP Biological_Response_Modifier CHEBI:50846 BRM Biological Response Modifier Biomodulators Immune Mediators Immune Modulators Immune Regulators Immunomodulating Agent Immunomodulators Immunomodulatory Agent Immunopotentiators Immunotherapeutic Agent Immunotherapy Immunotherapy Agent Immunotherapeutic Agent NCIT:C36327 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. C36327 Cell or Molecular Dysfunction Gene Abnormality C1517478 Gene_Abnormality Gene Abnormality Gene Abnormality NCIT:C36391 Any alteration in the inherited nucleic acid sequence of the genotype of an organism. C36391 Cell or Molecular Dysfunction Molecular Genetic Variation C0262496 Molecular_Genetic_Abnormality Anomaly DNA Sequence Variation Genetic Abnormality Genetic Alteration Genetic Anomaly Molecular Abnormality Molecular Anomaly Molecular Genetic Abnormality Molecular Genetic Anomaly Molecular Genetic Variation Molecular Genetic Variation NCIT:C3910 A molecular or cytogenic abnormality which occurs in either human disease states or disease models. C3910 Cell or Molecular Dysfunction Molecular Abnormality CL448235 Molecular_Abnormality Chromosomal, Gene, or Protein Abnormality Cytogenetic or Molecular Genetic Abnormality Genetic Abnormality Molecular Abnormality Molecular Alteration Molecular Abnormality NCIT:C40430 A change in the nucleotide sequence of the BRAF gene. C40430 Cell or Molecular Dysfunction BRAF Gene Mutation BRAF Gene Mutation C1511021 CPTAC CTRP BRAF_Gene_Mutation B-RAF Gene Mutation B-RAF1 Gene Mutation BRAF Gene Mutation BRAF Mutation BRAF1 Gene Mutation v-raf Murine Sarcoma Viral Oncogene Homolog B1 Gene Mutation BRAF Gene Mutation NCIT:C41383 Checkup is a general examination or inspection, especially one carried out by a doctor or dentist. C41383 Health Care Activity Checkup C0598836 Checkup Check-up Checkup Checkup NCIT:C471 A pharmacological agent that inhibits the catalytic activity of an enzyme. C471 Chemical Viewed Functionally Enzyme Inhibitor C0014432 Enzyme_Inhibitor CHEBI:23924 Enzyme Antagonist Enzyme Inhibitor Enzyme Inhibitor Agent Enzyme Inhibitor Drug Enzyme Inhibitor NCIT:C47854 A surgical procedure in which the sentinel node is removed followed by dissection and removal of the axillary node group. C47854 Health Care Activity Sentinel Lymph Node Biopsy with Axillary Lymph Node Dissection C1710051 Sentinel_Lymph_Node_Biopsy_with_Axillary_Lymph_Node_Dissection Axillary Lymph Node Dissection with Prior Sentinel Lymph Node Biopsy Sentinel Lymph Node Biopsy with Axillary Lymph Node Dissection Sentinel Lymph Node Biopsy with Axillary Lymph Node Dissection NCIT:C48184 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. C48184 Therapeutic or Preventive Procedure Retroperitoneal Lymph Node Dissection Retroperitoneal Lymph Node Dissection C1112682 CTRP Retroperitoneal_Lymph_Node_Dissection RPLND Retroperitoneal Lymph Node Dissection Retroperitoneal Lymph Node Dissection NCIT:C48935 Surgical removal of the lymph nodes located in a particular anatomic region. This procedure is commonly performed as a component of cancer staging. C48935 Health Care Activity Regional Lymph Node Dissection Regional Lymph Node Dissection C1709883 CTRP 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. Regional_Lymph_Node_Dissection Regional Lymph Node Dissection regional lymph node dissection Regional Lymph Node Dissection NCIT:C48936 The surgical removal of all or part of the lymph nodes that drain lymph from the area around a tumor. C48936 Therapeutic or Preventive Procedure Radical Lymph Node Dissection C0193854 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. Radical_Lymph_Node_Dissection Radical Lymph Node Dissection radical lymph node dissection Radical Lymph Node Dissection NCIT:C49163 C49163 Classification Surgical Procedure by Site or System C1710259 Header_Concept Surgical_Procedure_by_Site_or_System Surgical Procedure by Site or System Surgical Procedure by Site or System NCIT:C49165 A categorization of surgical procedures based on surgical techniques. C49165 Classification Surgical Procedure by Method C1710258 Header_Concept Surgical_Procedure_by_Method Surgical Procedure by Method Surgical Procedure by Method NCIT:C49236 An action or administration of therapeutic agents to produce an effect that is intended to alter or stop a pathologic process. C49236 Therapeutic or Preventive Procedure Therapeutic Procedure Therapeutic Procedure C0087111 CDISC-GLOSS CTRP NICHD See intervention. Treatment. Therapeutic_Procedure Therapeutic Procedure TREAT TX Therapeutic Interventions Therapeutic Method Therapeutic Procedure Therapeutic Technique Therapy Treatment therapeutic intervention therapy Therapeutic Procedure NCIT:C51486 Removal of conjunctival tissue for microscopic examination. C51486 Diagnostic Procedure Biopsy of Conjunctiva C0197128 Biopsy_of_Conjunctiva Biopsy of Conjunctiva Conjunctival Biopsy Biopsy of Conjunctiva NCIT:C51487 Removal of tissue from the pharyngeal tonsil for microscopic examination. C51487 Diagnostic Procedure Biopsy of Pharyngeal Tonsil C0193950 Biopsy_of_Pharyngeal_Tonsil Biopsy of Adenoids Biopsy of Pharyngeal Tonsil Biopsy of Pharyngeal Tonsil NCIT:C51619 Surgical removal of one or more inguinal lymph nodes. C51619 Therapeutic or Preventive Procedure Inguinal Lymphadenectomy C0193884 Inguinal_Lymphadenectomy Inguinal Lymphadenectomy Inguinal Lymphadenectomy NCIT:C51620 Surgical removal of multiple adjacent, frequently adherent, inguinal lymph nodes. C51620 Therapeutic or Preventive Procedure Block Dissection of Inguinal Lymph Nodes C0398406 Block_Dissection_of_Inguinal_Lymph_Nodes Block Dissection of Inguinal Lymph Nodes Block Dissection of Inguinal Lymph Nodes NCIT:C51633 Removal of tissue from the breast for microscopic examination, involving surgical excision of a portion of the breast. C51633 Diagnostic Procedure Excisional Biopsy of Breast C0405348 Excisional_Biopsy_of_Breast Excisional Biopsy of Breast Excisional Biopsy of Breast NCIT:C51662 A surgical procedure in which a single or multiple lymph nodes are removed for microscopic examination. C51662 Diagnostic Procedure Excisional Biopsy of Lymph Node C0553989 Excisional_Biopsy_of_Lymph_Node Excisional Biopsy of Lymph Node Lymph Node Excision Excisional Biopsy of Lymph Node NCIT:C51663 Removal of tissue from the larynx for microscopic examination. C51663 Diagnostic Procedure Biopsy of Larynx C0852790 Biopsy_of_Larynx Biopsy of Larynx Laryngeal Biopsy Biopsy of Larynx NCIT:C51759 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. C51759 Therapeutic or Preventive Procedure Radical Neck Dissection C0034542 CPTAC Radical_Neck_Dissection Radical Neck Dissection Radical Neck Dissection NCIT:C51768 Removal of tissue from the nasopharynx for microscopic examination. C51768 Diagnostic Procedure Biopsy of Nasopharynx C0396352 Biopsy_of_Nasopharynx Biopsy of Nasopharynx Nasopharyngeal Biopsy Biopsy of Nasopharynx NCIT:C51786 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. C51786 Therapeutic or Preventive Procedure Selective Neck Dissection of Cervical Lymph Nodes C0398397 Selective_Neck_Dissection_of_Cervical_Lymph_Nodes Selective Neck Dissection of Cervical Lymph Nodes Selective Neck Dissection of Cervical Lymph Nodes NCIT:C51892 The surgical removal a of skin lesion. C51892 Therapeutic or Preventive Procedure Excision of Lesion of Skin C0191322 Excision_of_Lesion_of_Skin Excision of Lesion of Skin Excision of Lesion of Skin NCIT:C51896 Surgical removal of one or more pelvic lymph nodes. C51896 Therapeutic or Preventive Procedure Pelvic Lymphadenectomy C0193883 NCCN Surgery to remove lymph nodes in the pelvis for examination under a microscope to see if they contain cancer. Pelvic_Lymphadenectomy Excision Pelvic Lymph Nodes Pelvic Lymph Node Dissection Pelvic Lymphadenectomy pelvic lymphadenectomy Pelvic Lymphadenectomy NCIT:C51900 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. C51900 Diagnostic Procedure Lymph Node Biopsy Lymph Node Biopsy C0193842 CTRP Lymph_Node_Biopsy Biopsy of Lymph Node Lymph Node Biopsy Lymph Node Biopsy NCIT:C51904 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. C51904 Therapeutic or Preventive Procedure Modified Radical Neck Dissection Modified Radical Neck Dissection C0193864 CPTAC CTRP Modified_Radical_Neck_Dissection Modified Radical Neck Dissection Modified Radical Neck Dissection NCIT:C51922 Removal of mucosal tissue for microscopic examination. C51922 Diagnostic Procedure Biopsy of Mucosa C0852695 Biopsy_of_Mucosa Biopsy of Mucosa Mucosal Biopsy Biopsy of Mucosa NCIT:C51987 Radiation therapy that is administered subsequent to the main treatment plan to minimize or prevent disease recurrence. C51987 Therapeutic or Preventive Procedure Adjuvant Radiation Therapy Adjuvant Radiation Therapy C1706721 CTRP Adjuvant_Radiation_Therapy Adjuvant Radiation Therapy Adjuvant Radiation Therapy NCIT:C62658 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. C62658 Diagnostic Procedure Axillary Lymph Node Biopsy Axillary Lymph Node Biopsy C0398434 CTRP Axillary_Node_Biopsy Axillary Lymph Node Biopsy Axillary Node Biopsy Axillary Lymph Node Biopsy NCIT:C64261 Chemotherapy where the agent travels throughout the body by blood circulation. C64261 Therapeutic or Preventive Procedure Systemic Chemotherapy Systemic Chemotherapy C1883256 CTRP Treatment with anticancer drugs that travel through the blood to cells all over the body. Systemic_Chemotherapy Systemic Chemotherapy systemic chemotherapy Systemic Chemotherapy NCIT:C64768 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. C64768 Organic Chemical Pharmacologic Substance Vemurafenib Vemurafenib C1832009 918504-65-1 Advanced Melanoma 207SMY3FQT CTRP FDA 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. 528954 528954 C23H18ClF2N3O3S PLX4032 CHEBI:63637 1-propanesulfonamide, n-(3-((5-(4-chlorophenyl)-1h-pyrrolo(2,3-b)pyridin-3-yl)carbonyl)-2,4-difluorophenyl)- BRAF (V600E) kinase inhibitor RO5185426 BRAF(V600E) Kinase Inhibitor RO5185426 PLX-4032 PLX4032 RG 7204 RG7204 RO 5185426 VEMURAFENIB Vemurafenib Zelboraf Vemurafenib NCIT:C64979 C64979 Diagnostic Procedure Diagnostic Surgical Procedure Diagnostic Surgical Procedure C0522769 CTRP Diagnostic_Surgical_Procedure Diagnostic Surgical Procedure Diagnostic Surgical Procedure NCIT:C64982 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. C64982 Therapeutic or Preventive Procedure Therapeutic Surgical Procedure Therapeutic Surgical Procedure C1883301 CTRP Therapeutic_Surgical_Procedure Therapeutic Surgical Procedure Therapeutic Surgical Procedure NCIT:C64983 C64983 Diagnostic Procedure Diagnostic Lymphadenectomy Diagnostic Lymphadenectomy C1880305 CTRP Diagnostic_Lymphadenectomy Diagnostic Lymphadenectomy Diagnostic Lymphadenectomy NCIT:C65003 C65003 Therapeutic or Preventive Procedure Therapeutic Lymphadenectomy Therapeutic Lymphadenectomy C1883298 CTRP Therapeutic_Lymphadenectomy Therapeutic Lymphadenectomy Therapeutic Lymphadenectomy NCIT:C68814 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. C68814 Amino Acid, Peptide, or Protein Immunologic Factor Pharmacologic Substance Nivolumab Nivolumab C3657270 946414-94-4 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. 31YO63LBSN CTRP FDA 539733 539733 Anti-PD-1_Human_Monoclonal_Antibody_MDX-1106 BMS-936558 MDX-1106 NIVO NIVOLUMAB Nivolumab ONO-4538 Opdivo Nivolumab NCIT:C68923 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. C68923 Pharmacologic Substance Cobimetinib Cobimetinib C2346910 unresectable or metastatic melanoma with BRAF V600E or V600K mutation ER29L26N1X CTRP FDA 551654 551654 MEK_Inhibitor_XL518 COBIMETINIB Cobimetinib Cotellic GDC-0973 MEK Inhibitor GDC-0973 XL518 Cobimetinib NCIT:C69145 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. C69145 Chemical Viewed Functionally Mitogen-Activated Protein Kinase Kinase Inhibitor Mitogen-Activated Protein Kinase Kinase Inhibitor C2347168 CTRP Mitogen-Activated_Protein_Kinase_Kinase_Inhibitor MAP2K Inhibitor MAPK/ERK Kinase Inhibitor MAPKK Inhibitor MEK Inhibitor MKK Inhibitor Mitogen-Activated Protein Kinase Kinase Inhibitor Mitogen-Activated Protein Kinase Kinase Inhibitor NCIT:C74540 The surgical removal of superficial inguinal lymph nodes and deep femoral lymph nodes. C74540 Therapeutic or Preventive Procedure Inguinofemoral Lymphadenectomy C0398408 Inguinofemoral_Lymphadenectomy This surgery is used in the treatment of vulvar cancers. Inguinofemoral Lymphadenectomy Inguinofemoral Lymphadenectomy NCIT:C77908 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. C77908 Organic Chemical Pharmacologic Substance Trametinib Trametinib C2697961 871700-17-3 metastatic non-small cell lung cancer (NSCLC) with BRAF V600E mutation; unresectable or metastatic melanoma with BRAF V600E or V600K mutations 33E86K87QN CTRP FDA 599034 599034 C26H23FIN5O4 MEK_Inhibitor_GSK1120212 GSK1120212 JTP-74057 MEK Inhibitor GSK1120212 Mekinist N-(3-{3-cyclopropyl-5-[(2-fluoro-4-iodophenyl)amino]-6,8-dimethyl-2,4,7-trioxo-3,4,6,7-tetrahydropyrido[4,3-d]pyrimidin-1(2H)-yl}phenyl)acetamide TRAMETINIB Trametinib Trametinib NCIT:C82386 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. C82386 Pharmacologic Substance Dabrafenib Dabrafenib C3467876 1195765-45-7 metastatic non-small cell lung cancer (NSCLC) with BRAF V600E mutation QGP4HA4G1B CTRP FDA 641977 641977 C23H20F3N5O2S2 BRAF_Inhibitor_GSK2118436 BRAF Inhibitor GSK2118436 Benzenesulfonamide, N-(3-(5-(2-amino-4-pyrimidinyl)-2-(1,1-dimethylethyl)-4-thiazolyl)-2-fluorophenyl)-2,6-difluoro- DABRAFENIB Dabrafenib GSK-2118436 GSK-2118436A GSK2118436 Dabrafenib NCIT:C84865 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. C84865 Pharmacologic Substance Binimetinib Binimetinib C2830125 in combination with encorafenib, for the treatment of patients with unresectable or metastatic melanoma with a BRAF V600E or V600K mutation 181R97MR71 CTRP FDA 653635 653635 ARRY-162 ARRY-438162 BINIMETINIB Binimetinib MEK162 Mektovi Binimetinib NCIT:C93273 C93273 Therapeutic or Preventive Procedure Pulmonary Suffusion Isolated Chemotherapeutic Lung Perfusion C2985528 CTRP 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. Isolated Chemotherapeutic Lung Perfusion Pulmonary Suffusion isolated lung perfusion Isolated Chemotherapeutic Lung Perfusion NCIT:C94251 C94251 Therapeutic or Preventive Procedure Chemoimmunotherapy C2986423 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. Chemoimmunotherapy chemoimmunotherapy Chemoimmunotherapy NCIT:C94449 C94449 Therapeutic or Preventive Procedure Radical Local Excision C2986520 Surgery to remove a tumor and a large amount of normal tissue surrounding it. Nearby lymph nodes may also be removed. Radical Local Excision radical local excision Radical Local Excision NCIT:C97926 A variation in or modification of the molecular sequence of a gene or gene product. C97926 Cell or Molecular Dysfunction Molecular Sequence Variation C3273703 Molecular Sequence Variation Molecular Sequence Variation NCIT:C97927 A variation in the nucleic acid sequence of a specific gene. C97927 Cell or Molecular Dysfunction Gene Mutant C0678941 Gene Mutant Gene Mutation Gene Variant Gene Mutant NCIT:C97928 A variation in the amino acid sequence of a specific gene product. C97928 Cell or Molecular Dysfunction Gene Product Sequence Variation C3273704 Gene Product Sequence Variation Gene Product Sequence Variation NCIT:C98283 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. C98283 Organic Chemical Pharmacologic Substance Encorafenib Encorafenib C4079208 1269440-17-6 in combination with binimetinib, for the treatment of patients with unresectable or metastatic melanoma with a BRAF V600E or V600K mutation 8L7891MRB6 CTRP FDA 712549 712549 Braftovi ENCORAFENIB Encorafenib LGX 818 LGX-818 LGX818 Encorafenib NCIT:C98307 A variation in the amino acid sequence for the serine/threonine-protein kinase B-raf protein. C98307 Cell or Molecular Dysfunction BRAF Protein Variant BRAF Protein Variant C3273955 CTRP BRAF Protein Variant Serine/Threonine-Protein Kinase B-raf Protein Variant BRAF Protein Variant OAE:0000001 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'. Yongqun He AE adverse reaction 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/. Complication OAE:0000027 an adverse event that has an outcome of abnormal sign in a musculoskeletal or connective tissue. YH, RR, JX musculoskeletal and connective tissue disorder AE WEB: http://www.cdc.gov/niosh/programs/msd/ 10028395 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 musculoskeletal or connective tissue AE CTCAE: E13872 OAE:0000069 an adverse event which occurs in a metabolism process (including anabolism and catabolism), endocrine system, or exocrine system. SS, YH, JX metabolism, endocrine, and exocrine system AE 10027433 metabolism, endocrine or exocrine system AE MP: 0005266 OAE:0000085 a cardiovascular disorder AE that has a vascular disorder outcome 10047065 vascular disorder AE OAE:0000185 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. SS, YH, MW 血栓症; 血栓生成 10043607 thrombosis AE HPO: HP_0004419 SIDER: C0040053 OAE:0000202 a metabolism, endocrine, and exocrine system AE that occurs in endocrine system. 10014698 YH, SS endocrine system AE OAE:0000378 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 YH respiratory system AE OAE:0000408 an abnormal vision AE characterised by leakage of fluid under the retina causing visual impairment, usually in one eye. SJ, YH central serous chorioretinopathy WEB: http://en.wikipedia.org/wiki/Central_serous_retinopathy 10063118 central serous retinopathy AE OAE:0000410 a seizure AE that has an outcome of a seizure disorder associated with an elevated temperature YH, BY http://emedicine.medscape.com/article/1176205-overview febrile seizure AE OAE:0000427 a cardiovascular disorder AE that has an outcome of hemorrhage bleeding AE haemorrhage AE WEB: http://medical-dictionary.thefreedictionary.com/hemorrhage 10055798 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 hemorrhage AE MP: MP_0001914 OAE:0000434 a respiratory system AE which has an outcome of lung disorder YH lung disorder AE 10025082 lung AE HPO: HP_0006552 SIDER: C0024115 OAE:0000435 a musculoskeletal system AE that occurs in muscle. YH muscle AE OAE:0000443 an AE that occurs in eye. YH eye disorder AE 10015916 eye AE HPO: HP_0000496 SIDER: C0015397 OAE:0000476 an AE that occurs in immune system. 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). YH immune system disorder AE immune system AE HPO: HP_0002715 SIDER: C0021053 OAE:0000493 an AE that occurs in cardiovascular system. YH cardiovascular disorder AE 10007649 cardiovascular AE HPO: HP_0001626 SIDER: C0007222 OAE:0000501 a glucose homeostasis AE which has an outcome of diabetes mellitus YH diabetes AE 10012601 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). diabetes mellitus AE HPO: HP_0000819 SIDER: C0011849 OAE:0000547 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 YH, MW WEB: http://medical-dictionary.thefreedictionary.com/hyperglycemia 10020635 10020639 hyperglycemia AE CTCAE: E12276 MP: MP_0001559 NCIt: C26797 OAE:0000555 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 homeostasis AE MP: MP_0001764 OAE:0000557 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. SS, YH WEB: http://en.wikipedia.org/wiki/Inflammation 10061218 inflammation AE HPO: HP_0007891 MP: MP_0001846 SIDER: C0021368 OAE:0000558 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). brain inflammation AE MP: MP_0001847 OAE:0000563 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). lung inflammation AE MP: MP_0001861 OAE:0000564 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 respiratory system inflammation AE MP: MP_0002405 OAE:0000578 an eye disorder AE which has an outcome of abnormal vision, which is an inability or decreased ability to see abnormal vision AE MP: MP_0002090 OAE:0000579 a behavior and neurological AE that shows a sudden surge of electrical activity in the brain. YH, JX, YH WEB: http://www.healthline.com/symptom/seizures 突然发作 10039906 10039910 seizure AE CTCAE: E12804 MP: MP_0002064 NCIt: C2962 OAE:0000580 an adverse event that has an outcome of an abnormal behavior and neurological phenotype. YH, JX behavior AE behavioral AE behavioral disorder AE disruptive behavioral disorder AE 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 behavioral and neurological AE MP: MP_0004924 OAE:0000583 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 glucose homeostasis AE MP: MP_0002078 OAE:0000622 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 YH urinary system AE MP: MP_0005502 OAE:0000825 an inflammation AE that occurs at the large intestine DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002112/ 10009887 colitis AE CTCAE: E10521 HPO: HP_0002583 NCIt: C26723 SIDER: C0009319 OAE:0001095 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 SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23289473 10022611 interstitial lung disease AE HPO: HP_0006530 SIDER: C0206062 OAE:0001307 a lung inflammation AE located in the lung tissue SZ, SS, YH, MW pulmonitis AE WEB: http://medical-dictionary.thefreedictionary.com/pneumonitis 10035742 pneumonitis AE CTCAE:E13502 NCIt:C3333 OAE:0001378 a muscle adverse event that results in damaged skeletal muscle tissue breaks down rapidly SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/rhabdomyolysis 10039020 rhabdomyolysis AE HPO: HP_0009045 SIDER: C0035410 OAE:0001778 an inflammation AE that occurs in eye. YH, JX eye inflammation AE OAE:0001785 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. SS RVO WEB: http://www.nlm.nih.gov/medlineplus/ency/article/007330.htm 10038907 retinal vein occlusion AE OAE:0001882 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. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 非胰岛素依赖型糖尿病 10029505 non-insulin-dependent diabetes mellitus AE OAE:0001883 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. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Diabetes_mellitus_type_1 胰岛素依赖型糖尿病 10022497 insulin dependent diabetes mellitus AE OAE:0001886 Uveitis AE is an inflammation AE that is inflammation of the uvea, which lines the inside of the eye behind the cornea. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Uveitis 色素层炎 10046851 uveitis AE CTCAE: E10442 NCIt: C26909 OAE:0001914 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. JX, LW, YH brittle diabetes AE labile diabetes AE WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=7271 不稳定型糖尿病 10006372 unstable diabetes AE OAE:0002223 Retinal detachment AE is an eye AE that is a separation of the retina from its attachments to the underlying tissue within the eye. JX, LW, YH WEB: http://www.medicinenet.com/retinal_detachment/article.htm 视网膜脱离 10038848 retinal detachment AE CTCAE: E10420 NCIT: C26874 NCIt: C26874 OAE:0002281 Severe rhabdomyolysis AE is a rhabdomyolysis AE that shows in severe damaged skeletal muscle tissue breaks down rapidly. JX, LW, YH 严重的横纹肌溶解症 severe rhabdomyolysis AE OAE:0002424 Encephalitis AE is a nervous system AE that is an acute inflammation of the brain. JX, YH WEB: http://en.wikipedia.org/wiki/Encephalitis 10014581 encephalitis AE OAE:0003104 a pneumonitis AE that has severe symptoms; limiting self care ADL; oxygen indicated YH, MW Grade 3 pneumonitis AE CTCAE: E13505 OAE:0003105 a pneumonitis AE that has life-threatening respiratory compromise; urgent intervention indicated (e.g., tracheotomy or intubation) YH, MW Grade 4 pneumonitis AE CTCAE: E13506 OAE:0003196 a hypeglycemia AE that has fasting glucose value >ULN - 160 mg/dL; Fasting glucose value >ULN - 8.9 mmol/L YH, MW Grade 1 hyperglycemia AE CTCAE: E12277 OAE:0003197 a hypeglycemia AE that has fasting glucose value >160 - 250 mg/dL; Fasting glucose value >8.9 - 13.9 mmol/L YH, MW Grade 2 hyperglycemia AE CTCAE: E12278 OAE:0003198 a hypeglycemia AE that has >250 - 500 mg/dL; >13.9 - 27.8 mmol/L; hospitalization indicated YH, MW Grade 3 hyperglycemia AE CTCAE: E12279 OAE:0003199 a hypeglycemia AE that has >500 mg/dL; >27.8 mmol/L; life-threatening consequences YH, MW Grade 4 hyperglycemia AE CTCAE: E12280 OAE:0003255 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. MW, YH 10001367 adrenal insufficiency AE CTCAE: E10298 NCIt: C26691 OAE:0003762 an uveitis AE that has anterior uveitis; medical intervention indicated MW, YH Grade 2 uveitis AE CTCAE: E10444 OAE:0003763 an uveitis AE that has posterior or pan-uveitis MW, YH Grade 3 uveitis AE CTCAE: E10445 OAE:0003764 an uveitis AE that has blindness (20/200 or worse) in the affected eye MW, YH Grade 4 uveitis AE CTCAE: E10446 OAE:0004447 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 https://www.medicalnewstoday.com/articles/312579.php 10029117 nephritis AE owl:Individuals 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. C98338 Cell or Molecular Dysfunction BRAF NP_004324.2:p.V600A BRAF NP_004324.2:p.V600A C3273986 CTRP BRAF NP_004324.2:p.V600A BRAF NP_004324.2:p.Val600Ala BRAF V600A BRAF Val600Ala BRAF p.V600A BRAF p.Val600Ala NP_004324.2:p.Val600Ala Serine/Threonine-Protein Kinase B-raf V600A Serine/Threonine-Protein Kinase B-raf Val600Ala BRAF NP_004324.2:p.V600A A nucleotide substitution at position 1799 of the coding sequence of the BRAF gene where thymine has been mutated to cytosine. C98339 Cell or Molecular Dysfunction BRAF NM_004333.4:c.1799T>C BRAF NM_004333.4:c.1799T>C C3273987 rs113488022 CTRP B-RAF1 c.1799T>C BRAF NM_004333.4:c.1799T>C BRAF c.1799T>C NM_004333.4:c.1799T>C v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1799T>C BRAF NM_004333.4: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. C98340 Cell or Molecular Dysfunction BRAF NP_004324.2:p.V600D BRAF NP_004324.2:p.V600D C3273988 CTEP CTRP BRAF NP_004324.2:p.V600D BRAF NP_004324.2:p.Val600Asp BRAF V600D BRAF Val600Asp BRAF p.V600D BRAF p.Val600Asp NP_004324.2:p.Val600Asp Serine/Threonine-Protein Kinase B-raf V600D Serine/Threonine-Protein Kinase B-raf Val600Asp BRAF NP_004324.2:p.V600D 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. C98341 Cell or Molecular Dysfunction BRAF NM_004333.4:c.1799_1800delTGinsAT BRAF NM_004333.4:c.1799_1800delTGinsAT C3273989 CPTAC CTRP B-RAF1 c.1799_1800TG>AT BRAF NM_004333.4:c.1799_1800delTGinsAT BRAF V600D (c.1799_1800TG>AT) mutation BRAF c.1799_1800TG>AT BRAF c.1799_1800delTGinsAT NM_004333.4:c.1799_1800TG>AT NM_004333.4:c.1799_1800delTGinsAT v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1799_1800TG>AT BRAF NM_004333.4:c.1799_1800delTGinsAT 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. C98342 Cell or Molecular Dysfunction BRAF NP_004324.2:p.V600E BRAF NP_004324.2:p.V600E C3273990 CTEP CTRP Activating BRAF V600E Mutation BRAF NP_004324.2:p.V600E BRAF NP_004324.2:p.Val600Glu BRAF V600E BRAF V600E Activating Mutation BRAF V600E Mutation BRAF Val600Glu BRAF p.V600E BRAF p.Val600Glu NP_004324.2:p.V600E NP_004324.2:p.Val600Glu Serine/Threonine-Protein Kinase B-raf V600E Serine/Threonine-Protein Kinase B-raf Val600Glu BRAF NP_004324.2:p.V600E 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. C98343 Cell or Molecular Dysfunction BRAF NM_004333.4:c.1799_1800delTGinsAA BRAF NM_004333.4:c.1799_1800delTGinsAA C3273991 CTRP B-RAF1 c.1799_1800TG>AA BRAF NM_004333.4:c.1799_1800delTGinsAA BRAF c.1799_1800TG>AA BRAF c.1799_1800delTGinsAA NM_004333.4:c.1799_1800TG>AA NM_004333.4:c.1799_1800delTGinsAA v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1799_1800TG>AA BRAF NM_004333.4:c.1799_1800delTGinsAA A nucleotide substitution at position 1799 of the coding sequence of the BRAF gene where thymine has been mutated to adenine. C98344 Cell or Molecular Dysfunction BRAF NM_004333.4:c.1799T>A BRAF NM_004333.4:c.1799T>A C3273992 rs113488022 CPTAC CTRP B-RAF1 c.1799T>A BRAF NM_004333.4:c.1799T>A BRAF V600E (c.1799T>A) mutation BRAF c.1799T>A NM_004333.4:c.1799T>A v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1799T>A BRAF NM_004333.4: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. C98345 Cell or Molecular Dysfunction BRAF NP_004324.2:p.V600G BRAF NP_004324.2:p.V600G C3273993 CTRP BRAF NP_004324.2:p.V600G BRAF NP_004324.2:p.Val600Gly BRAF V600G BRAF p.V600G BRAF p.Val600Gly NP_004324.2:p.Val600Gly Serine/Threonine-Protein Kinase B-raf V600G Serine/Threonine-Protein Kinase B-raf Val600Gly BRAF NP_004324.2:p.V600G A nucleotide substitution at position 1799 of the coding sequence of the BRAF gene where thymine has been mutated to guanine. C98346 Cell or Molecular Dysfunction BRAF NM_004333.4:c.1799T>G BRAF NM_004333.4:c.1799T>G C3273994 CTRP B-RAF1 c.1799T>G BRAF NM_004333.4:c.1799T>G BRAF c.1799T>G NM_004333.4:c.1799T>G v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1799T>G BRAF NM_004333.4: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. C98347 Cell or Molecular Dysfunction BRAF NP_004324.2:p.V600K BRAF NP_004324.2:p.V600K C3273995 CTEP CTRP BRAF NP_004324.2:p.V600K BRAF NP_004324.2:p.Val600Lys BRAF V600K BRAF Val600Lys BRAF p.V600K BRAF p.Val600Lys NP_004324.2:p.Val600Lys Serine/Threonine-Protein Kinase B-raf V600K Serine/Threonine-Protein Kinase B-raf Val600Lys BRAF NP_004324.2:p.V600K 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. C98348 Cell or Molecular Dysfunction BRAF NM_004333.4:c.1798_1799delGTinsAA BRAF NM_004333.4:c.1798_1799delGTinsAA C3273996 CPTAC CTRP B-RAF1 c.1798_1799GT>AA BRAF NM_004333.4:c.1798_1799delGTinsAA BRAF V600K (c.1798_1799GT>AA) mutation BRAF c.1798_1799GT>AA BRAF c.1798_1799delGTinsAA NM_004333.4:c.1798_1799GT>AA NM_004333.4:c.1798_1799delGTinsAA v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1798_1799GT>AA BRAF NM_004333.4:c.1798_1799delGTinsAA 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. C98349 Cell or Molecular Dysfunction BRAF NP_004324.2:p.V600L BRAF NP_004324.2:p.V600L C3273997 CTRP BRAF NP_004324.2:p.V600L BRAF NP_004324.2:p.Val600Leu BRAF V600L BRAF p.V600L BRAF p.Val600Leu NP_004324.2:p.Val600Leu Serine/Threonine-Protein Kinase B-raf V600L Serine/Threonine-Protein Kinase B-raf Val600Leu BRAF NP_004324.2:p.V600L A nucleotide substitution at position 1798 of the coding sequence of the BRAF gene where guanine has been mutated to thymine. C98350 Cell or Molecular Dysfunction BRAF NM_004333.4:c.1798G>T BRAF NM_004333.4:c.1798G>T C3273998 rs121913378 CTRP B-RAF1 c.1798G>T BRAF NM_004333.4:c.1798G>T BRAF c.1798G>T NM_004333.4:c.1798G>T v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1798G>T BRAF NM_004333.4: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. C98351 Cell or Molecular Dysfunction BRAF NP_004324.2:p.V600M BRAF NP_004324.2:p.V600M C3273999 CTRP BRAF NP_004324.2:p.V600M BRAF NP_004324.2:p.Val600Met BRAF V600M BRAF V600M Mutation BRAF Val600Met BRAF p.V600M BRAF p.Val600Met NP_004324.2:p.V600M NP_004324.2:p.Val600Met Serine/Threonine-Protein Kinase B-raf V600M Serine/Threonine-Protein Kinase B-raf Val600Met BRAF NP_004324.2:p.V600M A nucleotide substitution at position 1798 of the coding sequence of the BRAF gene where guanine has been mutated to adenine. C98352 Cell or Molecular Dysfunction BRAF NM_004333.4:c.1798G>A BRAF NM_004333.4:c.1798G>A C3274000 rs121913378 CTRP B-RAF1 c.1798G>A BRAF NM_004333.4:c.1798G>A BRAF c.1798G>A NM_004333.4:c.1798G>A v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1798G>A BRAF NM_004333.4: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. C98353 Cell or Molecular Dysfunction BRAF NP_004324.2:p.V600R BRAF NP_004324.2:p.V600R C3274001 CTEP CTRP BRAF NP_004324.2:p.V600R BRAF NP_004324.2:p.Val600Arg BRAF V600R BRAF Val600Arg BRAF p.V600R BRAF p.Val600Arg NP_004324.2:p.Val600Arg Serine/Threonine-Protein Kinase B-raf V600R Serine/Threonine-Protein Kinase B-raf Val600Arg BRAF NP_004324.2:p.V600R 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. C98354 Cell or Molecular Dysfunction BRAF NM_004333.4:c.1798_1799delGTinsAG BRAF NM_004333.4:c.1798_1799delGTinsAG C3274002 CPTAC CTRP B-RAF1 c.1798_1799GT>AG BRAF NM_004333.4:c.1798_1799delGTinsAG BRAF V600R (c.1798_1799GT>AG) mutation BRAF c.1798_1799GT>AG BRAF c.1798_1799delGTinsAG NM_004333.4:c.1798_1799GT>AG NM_004333.4:c.1798_1799delGTinsAG v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1798_1799GT>AG BRAF NM_004333.4:c.1798_1799delGTinsAG 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. C98355 Cell or Molecular Dysfunction BRAF NM_004333.4:c.1797_1799delAGTinsGAG BRAF NM_004333.4:c.1797_1799delAGTinsGAG C3274003 CTRP B-RAF1 c.1797_1799AGT>GAG BRAF NM_004333.4:c.1797_1799delAGTinsGAG BRAF c.1797_1799AGT>GAG BRAF c.1797_1799delAGTinsGAG NM_004333.4:c.1797_1799AGT>GAG NM_004333.4:c.1797_1799delAGTinsGAG v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1797_1799AGT>GAG BRAF NM_004333.4:c.1797_1799delAGTinsGAG