| 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
| | Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. |
| | 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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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