CADASIL Syndrome

Preferred Label : CADASIL Syndrome;

NCIt synonyms : CADASIL;

NCIt definition : A hereditary cerebrovascular disorder caused by mutations in the Notch 3 gene. It is characterized by alterations of the muscular wall of the small vessels in the brain, resulting in transient ischemic attacks. It may lead to cognitive problems and dementia.;

Details

Origin ID

C84606;

UMLS CUI

C0751587;

Currated CISMeF NLP mapping
- CADASIL [Radlex concept]
- 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 [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]
DO Cross reference
- CADASIL [DO Concept]
False automatic mappings
- notch receptor 3 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CADASIL [MedDRA LLT]
- CADASIL [Radlex concept]
- CADASIL [DO Concept]
- CADASIL [MedDRA Preferred Term]
- CADASIL [MeSH concept]
- CADASIL [MeSH Descriptor]
- CADASIL syndrome [PASCAL descriptor]
- CADASIL syndrome [Disease (Nov.)]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NOTCH3 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- NOTCH3 Gene [NCIt concept]
- NOTCH3 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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