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hyperprolinemie type 2 (aandoening)
hyperprolinemie type 2
Hyperprolinemia type 2
Hyperprolinemia type II
An autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
Id717181004
StatusPrimitive
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetE72.5
RuleTRUE
AdviceALWAYS E72.5
CorrelationSNOMED CT source code to target map code correlation not specified