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hyperammoniëmie type III (aandoening)
hyperammoniëmie type III
hyperammoniëmie door NAGS-deficiëntie
hyperammoniëmie door N-acetylglutamatesynthasedeficiëntie
Hyperammonemia, type III
NAGS-gene related hyperammonemia type III
Amino acid acetyltransferase deficiency
N-acetylglutamate transferase deficiency
N-Acetylglutamate synthase deficiency
N-acetylglutamate synthetase deficiency
NAGS deficiency
NAGS - N-Acetylglutamate synthase deficiency
Congenital AGA deficiency
Id57119000
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE72.2
TermStofwisselingsstoornissen van ureumcyclus
SNOMED CT to Orphanet simple map927
SNOMED CT to ICD-10 extended map
TargetE72.2
RuleTRUE
AdviceALWAYS E72.2
CorrelationSNOMED CT source code to target map code correlation not specified