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fosfo-enolpyruvaatcarboxykinasedeficiëntie (aandoening)
fosfo-enolpyruvaatcarboxykinasedeficiëntie
Phosphoenolpyruvate carboxykinase (GTP) deficiency
Phosphoenolpyruvate carboxykinase deficiency
PEPCK - Phosphoenolpyruvate carboxykinase deficiency
Id5335002
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE74.4
TermStoornissen van pyruvaatmetabolisme en stoornissen van gluconeogenese
SNOMED CT to Orphanet simple map2880
SNOMED CT to ICD-10 extended map
TargetE74.4
RuleTRUE
AdviceALWAYS E74.4
CorrelationSNOMED CT source code to target map code correlation not specified