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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
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
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
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