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methylmalonzuuracidemie door deficiëntie van methylmalonyl-co-enzym A-epimerase (aandoening)
methylmalonzuuracidemie door deficiëntie van methylmalonyl-co-enzym A-epimerase
methylmalonzuuracidemie door methylmalonyl-CoA-epimerasedeficiëntie
MMA door deficiëntie van methylmalonyl-CoA-epimerase
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
MCEE-gene related methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
A rare inborn error of metabolism disease with characteristics of mild to moderate persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms or the disease may also be asymptomatic.
Id765137006
StatusDefined
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 map308425
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