| hyperinsulinisme door deficiëntie van korte-keten-3-hydroxy-acyl-coenzym-A-dehydrogenase (aandoening) | | hyperinsulinisme door deficiëntie van korte-keten-3-hydroxy-acyl-coenzym-A-dehydrogenase | | hyperinsulinisme door korte-keten-3-hydroxy-acyl-coenzym-A-dehydrogenasedeficiëntie
hyperinsulinisme door korte-keten-3-hydroxyacyl-CoA-dehydrogenasedeficiëntie
| | Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
| | A mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure. Less than 10 cases have been reported to date. The disease can present in infancy or early childhood. It presents with the manifestations of hyperinsulinemic hypoglycemia with vomiting, lethargy and seizures. Complications include coma and sudden death. It has responded well to diazoxide. It is caused by a mutation in the HADH gene (4q22-q26) encoding the SCHAD protein that has a dual function both as an enzyme and an inhibitor of glutamate dehydrogenase. The mode of inheritance is autosomal recessive. |
| | DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E71.3 | | Term | Stoornissen van vetzuurmetabolisme |
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| SNOMED CT to Orphanet simple map | 71212 |
| 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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