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3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)
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.
juveniele deficiëntie van 3-fosfoglyceraatdehydrogenase
juveniele 3-fosfoglyceraatdehydrogenasedeficiëntie
Id733636005
StatusPrimitive
ICD-10 complex map reference set
TargetE72.8
RuleTRUE
AdviceALWAYS E72.8
CorrelationSNOMED CT source code to target map code correlation not specified