2-hydroxyglutaaracidurie
autosomaal recessieve hereditaire aandoening
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gecombineerde D-2- en L-2-hydroxyglutaaracidurie (aandoening)
gecombineerde D-2- en L-2-hydroxyglutaaracidurie
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
D,L-2-hydroxyglutaric acidemia
Id713401006
StatusPrimitive
Finding sitestructuur van centraal zenuwstelsel
Occurrencecongenitaal
Finding sitestructuur van endocrien systeem
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE72.8
TermOverige gespecificeerde stofwisselingsstoornissen van aminozuren
SNOMED CT to Orphanet simple map356978
SNOMED CT to ICD-10 extended map
TargetE72.8
RuleTRUE
AdviceALWAYS E72.8
CorrelationSNOMED CT source code to target map code correlation not specified