Congenital bile acid synthesis defect type 4

Preferred Label : Congenital bile acid synthesis defect type 4;

ICD-11 definition : Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.;

ICD-11 synonym : Alpha-methyl-acyl-CoA racemase deficiency; AMACR deficiency; Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy;

Details

Origin ID

1957485343;

UMLS CUI

C1858328;

Automatic exact mappings (from CISMeF team)
- Alpha-Methylacyl-CoA Racemase Deficiency [NCIt concept]
- Alpha-Methylacyl-CoA racemase deficiency [MeSH Supplementary Concept]
- Alpha-Methylacyl-CoA racemase deficiency [MeSH concept]
- Alpha-methylacyl-CoA racemase deficiency disorder (disorder) [SNOMED CT concept]
- Alpha-methylacyl-coa racemase deficiency [OMIM Phenotype]
- alpha-methylacyl-CoA racemase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Bile acid synthesis defect, congenital, 4 [MeSH concept]
- Bile acid synthesis defect, congenital, 4 [OMIM Phenotype]
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
- bile acid synthesis defect, congenital, 4 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 4 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bile acid synthesis defect, congenital, 4 [OMIM Phenotype]
- Bile acid synthesis defect, congenital, 4 [MeSH concept]
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
- bile acid synthesis defect, congenital, 4 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 4 [DO Concept]

Keyword's position in hierarchy(ies) :

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