cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Preferred Label : cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;

MeSH note : mutation in HTRA1;

MeSH synonym : subcortical vascular encephalopathy, progressive; cerebrovascular disease with thin skin, alopecia, and disc disease; CARASIL; MAEDA syndrome; familial Young-Adult-Onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension; nemoto disease;

Details

Origin ID

C563990;

UMLS CUI

C1838577;

Currated CISMeF NLP mapping
- Autosomal Recessive Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy [NCIt concept]
- CARASIL [Disease (Nov.)]
- 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-subcortical infarcts-leukoencephalopathy [ORDO Disease]
MeSH term(s) associated for indexing
- alopecia [MeSH Descriptor]
- cerebral infarction [MeSH Descriptor]
- leukoencephalopathies [MeSH Descriptor]
- spinal diseases [MeSH Descriptor]
Record concept(s)
- cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy [NCIt 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-subcortical infarcts-leukoencephalopathy [ORDO Disease]

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