Congenital bile acid synthesis defect type 2

Preferred Label : Congenital bile acid synthesis defect type 2;

ICD-11 definition : Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.;

ICD-11 synonym : Delta(4)-3-oxosterol 5-beta-reductase deficiency;

Details

Origin ID

383380992;

UMLS CUI

C1856127;

Currated CISMeF NLP mapping
- Bile acid synthesis defect, congenital, 2 [MeSH concept]
- Bile acid synthesis defect, congenital, 2 [OMIM Phenotype]
- Bile acid synthesis defect, congenital, 4 [OMIM Phenotype]
- Congenital bile acid synthesis defect type 2 [ORDO Disease]
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
- bile acid synthesis defect, congenital, 2 [MeSH Supplementary Concept]
- bile acid synthesis defect, congenital, 4 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 2 [DO Concept]
See also inter- (CISMeF)
- congenital bile acid synthesis defect 4 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bile acid synthesis defect, congenital, 2 [OMIM Phenotype]
- Bile acid synthesis defect, congenital, 2 [MeSH concept]
- Congenital bile acid synthesis defect type 2 [ORDO Disease]
- Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder) [SNOMED CT concept]
- bile acid synthesis defect, congenital, 2 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 2 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients