| aandoening door deficiëntie van 2-methylbutyryl-co-enzym-A-dehydrogenase (aandoening) | | aandoening door deficiëntie van 2-methylbutyryl-co-enzym-A-dehydrogenase | | ziekte door tekort aan 2-methylbutyryl-CoA-dehydrogenase
| | 2-methylbutyryl-coenzyme A dehydrogenase deficiency disease | | Short/branched-chain acyl-coA dehydrogenase deficiency disease
ACADSB-gene related deficiency of 2-methylbutyryl-coenzyme A dehydrogenase
2-methylbutyric aciduria
| | A rare organic aciduria with characteristics of impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported. |
| | Id | 1306751004 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| 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 |
|
|
