| deficiëntie van 'short chain'-acyl-co-enzym A-dehydrogenase (aandoening) | | deficiëntie van 'short chain'-acyl-co-enzym A-dehydrogenase | | 'short chain'-acyl-CoA-dehydrogenasedeficiëntie
| | Short chain acyl-coenzyme A dehydrogenase deficiency | | ACADS - short chain acyl-coenzyme A dehydrogenase deficiency
SCAD - short chain acyl-CoA dehydrogenase deficiency
Short chain acyl-CoA dehydrogenase deficiency
| | Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. |
| | Id | 787412002 | | 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 | 26792 |
| SNOMED CT to ICD-10 extended map | | Target | E71.3 | | Rule | TRUE | | Advice | ALWAYS E71.3 | 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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