Autosomal Recessive Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Preferred Label : Autosomal Recessive Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy;

NCIt synonyms : CARASIL;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the HTRA1 gene, encoding serine protease HTRA1. It is characterized by subcortical infarcts and leukoencephalopathy resulting in progressive motor dysfunction and dementia.;

Details

Origin ID

C202018;

UMLS CUI

C1838577;

Currated CISMeF NLP mapping
- Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy [OMIM Phenotype]
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MedDRA LLT]
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) [SNOMED CT concept]
- cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MeSH concept]
- cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CARASIL [Disease (Nov.)]
- CARASIL syndrome [MedDRA Preferred Term]
- Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy [OMIM Phenotype]
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MedDRA LLT]
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) [SNOMED CT concept]
- cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MeSH Supplementary Concept]
- cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HTRA1 Gene [NCIt concept]

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