bile acid synthesis defect, congenital, 1

Preferred Label : bile acid synthesis defect, congenital, 1;

CISMeF synonym : cholestasis, progressive familial intrahepatic 4;

MeSH synonym : 3-Beta-Hydroxy-Delta-5-C27-Steroid oxidoreductase, deficiency of; congenital bile acid synthesis defect type 1 (CBAS1); 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency;

Related MeSH term : Progressive familial intrahepatic cholestasis 4; PFIC4 Progressive familial intrahepatic cholestasis type 4;

Details

Origin ID

C535442;

UMLS CUI

C1843116;

Automatic exact mappings (from CISMeF team)
- Cholestasis, progressive familial intrahepatic, 4 [OMIM Phenotype]
- congenital bile acid synthesis defect [DO Concept]
- progressive familial intrahepatic cholestasis 4 [DO Concept]
CISMeF manual mappings
- Congenital bile acid synthesis defect type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- Bile acid synthesis defect, congenital, 1 [OMIM Phenotype]
- Congenital bile acid synthesis defect type 1 [ICD-11 More detail]
- congenital bile acid synthesis defect 1 [DO Concept]
DO Cross reference
- congenital bile acid synthesis defect 1 [DO Concept]
MeSH term(s) associated for indexing
- cholestasis [MeSH Descriptor]
- steroid metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Congenital bile acid synthesis defect type 1 [ORDO Disease]
Record concept(s)
- Bile acid synthesis defect, congenital, 1 [MeSH concept]
- Cholestasis, progressive familial intrahepatic 4 [MeSH concept]
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]
- Congenital bile acid synthesis defect type 1 [ORDO Disease]
- Congenital bile acid synthesis defect type 1 [ICD-11 More detail]
- congenital bile acid synthesis defect 1 [DO Concept]

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