Cerebrotendinous Xanthomatosis

Preferred Label : Cerebrotendinous Xanthomatosis;

NCIt definition : A rare inherited lipid-storage disorder caused by defects in the CYP27A1 gene. It is characterized by progressive neurologic dysfunction, premature atherosclerosis and development of cataracts.;

Details

Origin ID

C84628;

UMLS CUI

C0238052;

Automatic exact mappings (from CISMeF team)
- cytochrome P450 family 27 subfamily A member 1 [ORDO Gene]
- cytochrome P450 family 27 subfamily A member 1 [HGNC gene]
Currated CISMeF NLP mapping
- Cerebrotendinous xanthomatosis [PASCAL descriptor]
- Cerebrotendinous xanthomatosis [ICD-11 More detail]
- Cerebrotendinous xanthomatosis [OMIM Phenotype]
- Cerebrotendinous xanthomatosis [ORDO Disease]
- Cholestanol storage disease (disorder) [SNOMED CT concept]
- cerebrotendinous xanthomatosis [Disease (Nov.)]
- cerebrotendinous xanthomatosis [DO Concept]
- cerebrotendinous xanthomatosis [Radlex concept]
- cholestanol storage disease [SNOMED Notion]
- xanthomatosis, cerebrotendinous [MeSH Descriptor]
- xanthomatosis, cerebrotendinous [MeSH concept]
DO Cross reference
- cerebrotendinous xanthomatosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrotendinous xanthomatosis [ORDO Disease]
- Cerebrotendinous xanthomatosis [OMIM Phenotype]
- Cerebrotendinous xanthomatosis [PASCAL descriptor]
- Cerebrotendinous xanthomatosis [ICD-11 More detail]
- Cholestanol storage disease (disorder) [SNOMED CT concept]
- cerebrotendinous xanthomatosis [Radlex concept]
- cerebrotendinous xanthomatosis [DO Concept]
- cerebrotendinous xanthomatosis [Disease (Nov.)]
- cholestanol storage disease [SNOMED Notion]
- xanthomatosis, cerebrotendinous [MeSH concept]
- xanthomatosis, cerebrotendinous [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CYP27A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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