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homocystinurie zonder methylmalonacidurie (aandoening)
homocystinurie zonder methylmalonacidurie
homocystinurie zonder MMA
functionele methioninesynthasedeficiƫntie
Homocystinuria without methylmalonic aciduria
Functional methionine synthase deficiency
An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). These disorders are caused by a functional deficiency of the cytoplasmic enzyme methionine synthase (MS), which catalyzes remethylation of homocysteine to form methionine.
Id721225009
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE72.1
RuleTRUE
AdviceALWAYS E72.1
CorrelationSNOMED CT source code to target map code correlation not specified
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