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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.
Id1306751004
StatusPrimitive
Occurrencecongenitaal
SNOMED CT to ICD-10 extended map
TargetE71.1
RuleTRUE
AdviceALWAYS E71.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified