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infantiele deficiëntie van 3-fosfoglyceraatdehydrogenase (aandoening)
infantiele deficiëntie van 3-fosfoglyceraatdehydrogenase
infantiele 3-fosfoglyceraatdehydrogenasedeficiëntie
3-phosphoglycerate dehydrogenase deficiency infantile form
An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures.
Id733637001
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetE72.8
RuleTRUE
AdviceALWAYS E72.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified