bile acid synthesis defect, congenital, 2

Preferred Label : bile acid synthesis defect, congenital, 2;

MeSH synonym : cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; congenital bile acid synthesis defect type 2 (CBAS2);

Details

Origin ID

C535443;

UMLS CUI

C1856127;

CISMeF manual mappings
- Congenital bile acid synthesis defect type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- Bile acid synthesis defect, congenital, 2 [OMIM Phenotype]
- Congenital bile acid synthesis defect type 2 [ICD-11 More detail]
- congenital bile acid synthesis defect 2 [DO Concept]
DO Cross reference
- congenital bile acid synthesis defect 2 [DO Concept]
MeSH term(s) associated for indexing
- cholestasis [MeSH Descriptor]
- oxidoreductases [MeSH Descriptor]
- steroid metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Congenital bile acid synthesis defect type 2 [ORDO Disease]
Record concept(s)
- Bile acid synthesis defect, congenital, 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bile acid synthesis defect, congenital, 2 [OMIM Phenotype]
- Congenital bile acid synthesis defect type 2 [ORDO Disease]
- Congenital bile acid synthesis defect type 2 [ICD-11 More detail]
- Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder) [SNOMED CT concept]
- congenital bile acid synthesis defect 2 [DO Concept]

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