| 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
| | Anomaly of bile acid synthesis with manifestation of fat malabsorption, neonatal cholestasis and growth failure. Prevalence is unknown. Only 8 cases have been reported. Patients present with a history of neonatal cholestasis, fat and fat-soluble vitamin malabsorption and growth failure. Several mutations in the bile acid-CoA ligase gene have been found in most patients with this defect. The mode of transmission of these mutations is not known. |
| | 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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