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gecombineerde malonzuur- en methylmalonzuuracidurie (aandoening)
gecombineerde malonzuur- en methylmalonzuuracidurie
CMAMMA
gecombineerde malon- en methylmalonacidurie
Combined malonic and methylmalonic aciduria
CMAMMA - combined malonic and methylmalonic aciduria
A rare inborn error of metabolism with characteristics of elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. The disease presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.
Id702365002
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE71.1
TermOverige gespecificeerde stofwisselingsstoornissen van aminozuren met vertakte keten
SNOMED CT to Orphanet simple map289504
SNOMED CT to ICD-10 extended map
TargetE71.1
RuleTRUE
AdviceALWAYS E71.1
CorrelationSNOMED CT source code to target map code correlation not specified