| deficiëntie van delta-4-3-oxosteroïde-5-bètareductase (aandoening) | | deficiëntie van delta-4-3-oxosteroïde-5-bètareductase | | delta-4-3-oxosteroïde-5-bètareductasedeficiëntie
| | Delta-4-3-oxosteroid-5-beta-reductase deficiency | | Congenital bile acid synthesis defect type 2
| | An anomaly of bile acid synthesis with characteristics of severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. Patients present with neonatal cholestasis and rapid progression to cirrhosis and death in infancy without intervention. Caused by a mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1, 7q32-q33). Transmission is autosomal recessive. |
| | Id | 238035000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E78.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen van lipoproteïnen |
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| SNOMED CT to Orphanet simple map | 79303 |
| 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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