Congenital bile acid synthesis defect type 1

Preferred Label : Congenital bile acid synthesis defect type 1;

ICD-11 definition : Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption, most patients having features of neonatal cholestasis.;

ICD-11 synonym : 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; Progressive familial intrahepatic cholestasis type 4; 3-beta-hydroxysterol delta5-oxidoreductase/isomerase deficiency;

Details

Origin ID

352753987;

UMLS CUI

C1843116;

Automatic exact mappings (from CISMeF team)
- congenital bile acid synthesis defect [DO Concept]
Currated CISMeF NLP mapping
- Bile acid synthesis defect, congenital, 1 [OMIM Phenotype]
- Bile acid synthesis defect, congenital, 1 [MeSH concept]
- Congenital bile acid synthesis defect type 1 [ORDO Disease]
- bile acid synthesis defect, congenital, 1 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 1 [DO Concept]
See also inter- (CISMeF)
- Cholestasis, progressive familial intrahepatic 4 [MeSH concept]
- Cholestasis, progressive familial intrahepatic, 4 [OMIM Phenotype]
- Progressive familial intrahepatic cholestasis type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Bile acid synthesis defect, congenital, 1 [OMIM Phenotype]
- Bile acid synthesis defect, congenital, 1 [MeSH concept]
- Congenital bile acid synthesis defect type 1 [ORDO Disease]
- bile acid synthesis defect, congenital, 1 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 1 [DO Concept]

Keyword's position in hierarchy(ies) :

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