| aandoening door deficiëntie van isobutyryl-co-enzym-A-dehydrogenase (aandoening) | | aandoening door deficiëntie van isobutyryl-co-enzym-A-dehydrogenase | | ziekte door isobutyryl-CoA-dehydrogenase-deficiëntie
| | Isobutyryl-CoA dehydrogenase deficiency disease | | ACAD8-gene related deficiency of isobutyryl-coenzyme A dehydrogenase
Isobutyryl-coenzyme A dehydrogenase deficiency disease
Isobutyric aciduria
| | An inborn error of valine metabolism with prevalence unknown. Only one symptomatic patient with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency has been described so far, with several more identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). |
| | Id | 1306747001 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | E71.1 | | Rule | TRUE | | Advice | ALWAYS E71.1 | 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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