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juveniele deficiëntie van 3-fosfoglyceraatdehydrogenase (aandoening)
juveniele deficiëntie van 3-fosfoglyceraatdehydrogenase
juveniele 3-fosfoglyceraatdehydrogenasedeficiëntie
3-phosphoglycerate dehydrogenase deficiency juvenile form
An autosomal recessive form of serine deficiency. The juvenile disease has clinical characteristics in the few reported cases of absence seizures, moderate developmental delay and behavioral disorders.
Id733636005
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE72.8
RuleTRUE
AdviceALWAYS E72.8
CorrelationSNOMED CT source code to target map code correlation not specified