Cerebrotendinous xanthomatosis

Preferred Label : Cerebrotendinous xanthomatosis;

ICD-11 definition : Cerebrotendinous xanthomatosis is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.;

ICD-11 synonym : CTX - [Cerebrotendinous xanthomatosis]; Cholestanol storage disease; Van Bogaert-Scherer-Epstein disease; Sterol 27-hydroxylase deficiency;

ICD-11 acronym : CTX;

Détails

Origin ID

1556875179;

UMLS CUI

C0238052;

Automatic exact mappings (from CISMeF team)
- CYP27A1 wt Allele [NCIt concept]
- Crotoxin [NCIt concept]
- 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 [NCIt concept]
- Cerebrotendinous xanthomatosis [OMIM Phenotype]
- Cerebrotendinous xanthomatosis [ORDO Disease]
- Cerebrotendinous xanthomatosis [PASCAL descriptor]
- 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 Descriptor]
- xanthomatosis, cerebrotendinous [MeSH concept]
False automatic mappings
- CTX [NCIt concept]
- Chlorotoxin [NCIt concept]
- Cyclophosphamide [NCIt concept]
- Cyclophosphamide [LOINC component]
- Cyclophosphamide (substance) [SNOMED CT concept]
- Product containing cyclophosphamide (medicinal product) [SNOMED CT concept]
- cyclophosphamide [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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