| deficiëntie van lange-keten-3-hydroxyacyl-co-enzym A-dehydrogenase (aandoening) | | deficiëntie van lange-keten-3-hydroxyacyl-co-enzym A-dehydrogenase | | lange-keten-3-hydroxyacyl-CoA-dehydrogenasedeficiëntie
lange-keten-3-hydroxyacyl-co-enzym-A-dehydrogenasedeficiëntie
| | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | | LCHADD - long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
| | A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy or early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. Caused by the isolated deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase, an enzyme of the mitochondrial trifunctional protein complex (TFP). TFP is a heterooctamer of 4 alpha and 4 beta subunits. The disease is due to mutations in the HADHA gene (2p23) that encodes for the alpha subunit of TFP. Mitochondrial trifunctional protein deficiency is clinically indistinguishable from this disease. |
| | Id | 726021008 | | Status | Primitive |
| 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 | 5 |
| 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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