bile acid synthesis defect, congenital, 4

Preferred Label : bile acid synthesis defect, congenital, 4;

MeSH synonym : trihydroxycoprostanic acid in bile; cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid; Cbas4;

Details

Origin ID

C535444;

UMLS CUI

C1858328;

CISMeF manual mappings
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
Currated CISMeF NLP mapping
- Bile acid synthesis defect, congenital, 4 [OMIM Phenotype]
- Congenital bile acid synthesis defect type 2 [ICD-11 More detail]
- Congenital bile acid synthesis defect type 4 [ICD-11 More detail]
- congenital bile acid synthesis defect 4 [DO Concept]
DO Cross reference
- congenital bile acid synthesis defect 4 [DO Concept]
MeSH term(s) associated for indexing
- cholestasis, intrahepatic [MeSH Descriptor]
- peroxisomal disorders [MeSH Descriptor]
- racemases and epimerases [MeSH Descriptor]
ORDO relation(s)
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
Record concept(s)
- Bile acid synthesis defect, congenital, 4 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bile acid synthesis defect, congenital, 4 [OMIM Phenotype]
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
- Congenital bile acid synthesis defect type 4 [ICD-11 More detail]
- congenital bile acid synthesis defect 4 [DO Concept]

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