deficiëntie van galzuur-co-enzym A-ligase en defect van amidatie (aandoening) | | deficiëntie van galzuur-co-enzym A-ligase en defect van amidatie | | galzuur-CoA-ligasedeficiëntie en defect van amidatie
| | Bile acid CoA ligase deficiency and defective amidation | | Bile acid coenzyme A ligase deficiency and defective amidation
| | Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure. |
| Id | 717047007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | E88.8 | Term | Overige gespecificeerde stofwisselingsstoornissen |
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SNOMED CT to Orphanet simple map | 276066 |
SNOMED CT to ICD-10 extended map | Target | E88.8 | Rule | TRUE | Advice | ALWAYS E88.8 | Correlation | SNOMED CT source code to target map code correlation not specified |
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