Autosomal recessive hereditary disorder
Disorder of propionate AND/OR methylmalonate metabolism
Inborn error of metabolism
Specific enzyme deficiency
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Deficiency of methylmalonyl-coenzyme A mutase (disorder)
Deficiency of methylmalonyl-CoA mutase
Deficiency of methylmalonyl-coenzyme A mutase
deficiëntie van methylmalonyl-co-enzym A-mutase
methylmalonyl-CoA-mutasedeficiëntie
Id124680001
StatusPrimitive
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE88.0
RuleTRUE
AdviceALWAYS E88.0 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE
CorrelationSNOMED CT source code to target map code correlation not specified
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Complete deficiency of methylmalonyl-CoA mutase
Partial deficiency of methylmalonyl-CoA mutase