Arteriovenous malformations of the brain

Preferred Label : Arteriovenous malformations of the brain;

CISMeF acronym : BAVM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebral arteriovenous malformations; BAVM;

Included titles and symbols : Intracranial hemorrhage in brain arteriovenous malformations, susceptibility to;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the KRAS protooncogene, GTPase, gene (KRAS, 190070.0025);

Prefixed ID : #108010;

Details

Origin ID

108010;

UMLS CUI

C0917804;

Automatic exact mappings (from CISMeF team)
- Cerebral Arteriovenous Malformation/Hemangioma [NCIt concept]
- Cerebral arteriovenous malformation [ICD-11 More detail]
- Cerebral arteriovenous malformation [HPO term]
- Cerebral arteriovenous malformation (disorder) [SNOMED CT concept]
- arteriovenous malformations, cerebral [MeSH concept]
Currated CISMeF NLP mapping
- Cerebral arteriovenous malformation [ORDO Disease]
- Intracranial arteriovenous malformation [PASCAL descriptor]
- arteriovenous malformation of brain [Disease (Nov.)]
- arteriovenous malformations of the brain [DO Concept]
- intracranial arteriovenous malformations [MeSH Descriptor]
DO Cross reference
- arteriovenous malformations of the brain [DO Concept]
Genes related to phenotype
- Interleukin 6 [OMIM gene]
- Kras protooncogene, gtpase [OMIM gene]
HPO term(s)
- Cerebral arteriovenous malformation [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- Cerebral arteriovenous malformation [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Arteriovenous malformation of cerebral vessels [ICD-10 Sub-category]
- Cerebral Arteriovenous Malformation/Hemangioma [NCIt concept]
- Cerebral arteriovenous malformation [HPO term]
- Cerebral arteriovenous malformation (disorder) [SNOMED CT concept]
- Cerebrovascular arteriovenous malformation [MedDRA Preferred Term]
- arteriovenous malformation of brain [Disease (Nov.)]
- arteriovenous malformations, cerebral [MeSH concept]

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