CADASIL - CISMeF

Preferred Label : CADASIL;

RADLEX synonyms : cerebral autosomal dominant arteriopathy with infarcts and leukoencephalopathy;

Definition : A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small cerebral arteries producing ischemic stroke; pseudobulbar palsy; and multiple subcortical infarcts (cerebral infarction). cadasil is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. cadasil differs from binswanger disease by the presence of migraine with aura and usually by the lack of history of arterial hypertension. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146) [MeSH];

UMLS CUI (RADLEX) : C0751587;

Details

Origin ID

RID3360;

UMLS CUI

C0751587;

Automatic exact mappings (from CISMeF team)
- NOTCH3 wt Allele [NCIt concept]
- notch receptor 3 [ORDO Gene]
Currated CISMeF NLP mapping
- CADASIL [MedDRA LLT]
- CADASIL [DO Concept]
- CADASIL [MedDRA Preferred Term]
- CADASIL [MeSH Descriptor]
- CADASIL [MeSH concept]
- CADASIL - [cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy] syndrome [ICD-11 Sub-sub category]
- CADASIL 1 [DO Concept]
- CADASIL Syndrome [NCIt concept]
- CADASIL syndrome [Disease (Nov.)]
- CADASIL syndrome [PASCAL descriptor]
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 [OMIM Phenotype]
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) [SNOMED CT concept]
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy [ORDO Disease]
- cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [MedDRA Preferred Term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CADASIL [MedDRA LLT]
- CADASIL [MeSH Descriptor]
- CADASIL [MeSH concept]
- CADASIL [DO Concept]
- CADASIL [MedDRA Preferred Term]
- CADASIL Syndrome [NCIt concept]
- CADASIL syndrome [Disease (Nov.)]
- CADASIL syndrome [PASCAL descriptor]
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 [OMIM Phenotype]
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [MedDRA LLT]
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) [SNOMED CT concept]
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy [ORDO Disease]
- cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [MedDRA Preferred Term]

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