| deficiëntie van 3-bèta-hydroxy-delta-5-C27-steroïdedehydrogenase (aandoening) | | deficiëntie van 3-bèta-hydroxy-delta-5-C27-steroïdedehydrogenase | | 3-bèta-hydroxy-delta-5-C27-steroïdedehydrogenasedeficiëntie
| | 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | | Congenital bile acid synthesis defect type 1
| | The most common anomaly of bile acid synthesis with characteristics of variable manifestations of progressive cholestatic liver disease and fat malabsorption. The clinical presentation is heterogeneous, however most patients present with features of neonatal cholestasis. The disease is caused by a mutation in the gene encoding 3-beta-hydroxy-delta-5-C27 steroid oxidoreductase (HSD3B7, 16p12-p11.2). Transmission is autosomal recessive. |
| | Id | 238033007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 79301 |
| SNOMED CT to ICD-10 extended map | | Target | E78.8 | | Rule | TRUE | | Advice | ALWAYS E78.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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