| deficiëntie van alfa-methylacyl-co-enzym A-racemase (aandoening) | | deficiëntie van alfa-methylacyl-co-enzym A-racemase | | alfa-methylacyl-co-enzym-A-racemasedeficiëntie
alfa-methylacyl-CoA-racemasedeficiëntie
deficiëntie van alfa-methylacyl-CoA-racemase
| | Alpha-methylacyl-CoA racemase deficiency disorder | | Congenital bile acid synthesis defect type 4
AMACR deficiency
| | An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, hematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive. |
| | Id | 700463002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 79095 |
| SNOMED CT to ICD-10 extended map | | Target | K76.8 | | Rule | TRUE | | Advice | ALWAYS K76.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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