Cerebral Cavernous Malformation

Preferred Label : Cerebral Cavernous Malformation;

NCIt definition : A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.;

Details

Origin ID

C84626;

UMLS CUI

C2919945;

Automatic exact mappings (from CISMeF team)
- Cerebral cavernous malformation [ICD-11 Sub-sub category]
- Cerebral cavernous malformation [MedDRA Preferred Term]
- Cerebral cavernous malformation [HPO term]
- Cerebral cavernous malformations [OMIM phenotypic series]
- hemangioma, cavernous, central nervous system [MeSH Descriptor]
Currated CISMeF NLP mapping
- Cavernous hemangioma of brain (disorder) [SNOMED CT concept]
- Cerebral cavernous malformation [MedDRA LLT]
- Cerebral cavernous malformations [OMIM Phenotype]
- Cerebral cavernous malformations [ORDO Disease]
- cavernous hemangioma of brain [MeSH concept]
- cerebral cavernous malformation [DO Concept]
- cerebral cavernous malformation [Disease (Nov.)]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
- Vascular System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Cavernous hemangioma of brain (disorder) [SNOMED CT concept]
- Cerebral cavernous malformation [MedDRA LLT]
- Cerebral cavernous malformation [MedDRA Preferred Term]
- Cerebral cavernous malformation [HPO term]
- Cerebral cavernous malformations [OMIM Phenotype]
- Cerebral cavernous malformations [ORDO Disease]
- cavernous hemangioma of brain [MeSH concept]
- cerebral cavernous malformation [DO Concept]
- cerebral cavernous malformation [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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