| congenitaal defect van galzuursynthese type 3 (aandoening) | | congenitaal defect van galzuursynthese type 3 | | aangeboren galzuursynthesedefect type 3
| | Congenital bile acid synthesis defect type 3 | | Oxysterol 7-alpha hydroxylase deficiency
| | A severe anomaly of bile acid synthesis with manifestation of severe neonatal cholestatic liver disease. To date, only 2 cases of this disorder have been reported. Caused by mutations in the 7-alpha hydroxylase gene (CYP7B1, 8q21.3). The deficiency in oxysterol 7-alpha-hydroxylation leads to the accumulation of hepatotoxic unsaturated monohydroxy bile acids. The mode of transmission is presumed to be autosomal recessive. |
| | Id | 719454003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | K76.8 | | Term | Overige gespecificeerde leverziekten |
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| SNOMED CT to Orphanet simple map | 79302 |
| 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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