Desmosterolosis

Preferred Label : Desmosterolosis;

ICD-11 definition : Desmosterolosis is a cholesterol-biosynthesis disorder characterized by multiple malformations (including dysmorphic facies and cleft palate, and a variety of anomalies) and generalised accumulation of desmosterol.;

ICD-11 synonym : 3-beta-hydroxysterol D-24 reductase deficiency; Desmosterol reductase deficiency;

Details

Origin ID

2108931494;

UMLS CUI

C1865596;

Currated CISMeF NLP mapping
- Desmosterolosis [PASCAL descriptor]
- Desmosterolosis [OMIM Phenotype]
- Desmosterolosis [ORDO Disease]
- Desmosterolosis (disorder) [SNOMED CT concept]
- desmosterolosis [MeSH Supplementary Concept]
- desmosterolosis [MeSH concept]
- desmosterolosis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Desmosterolosis [OMIM Phenotype]
- Desmosterolosis [ORDO Disease]
- Desmosterolosis [PASCAL descriptor]
- Desmosterolosis (disorder) [SNOMED CT concept]
- desmosterolosis [MeSH concept]
- desmosterolosis [MeSH Supplementary Concept]
- desmosterolosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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