bile acid synthesis defect, congenital, 3

Preferred Label : bile acid synthesis defect, congenital, 3;

MeSH note : also known as Cbas3;

MeSH synonym : congenital bile acid synthesis defect type 3 (CBAS3);

Details

Origin ID

C566340;

UMLS CUI

C3151147;

Currated CISMeF NLP mapping
- Bile acid synthesis defect, congenital, 3 [OMIM Phenotype]
- Congenital bile acid synthesis defect type 3 [ORDO Disease]
- Congenital bile acid synthesis defect type 3 [ICD-11 More detail]
- Congenital bile acid synthesis defect type 3 (disorder) [SNOMED CT concept]
- congenital bile acid synthesis defect 3 [DO Concept]
DO Cross reference
- congenital bile acid synthesis defect 3 [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 3 [ORDO Disease]
Record concept(s)
- bile acid synthesis defect, congenital, 3 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bile acid synthesis defect, congenital, 3 [OMIM Phenotype]
- Congenital bile acid synthesis defect type 3 [ORDO Disease]
- congenital bile acid synthesis defect 3 [DO Concept]

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