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deficiëntie van porfobilinogeensynthase (aandoening)
deficiëntie van porfobilinogeensynthase
porfobilinogeensynthetasedeficiëntie
Porphobilinogen synthase deficiency
Acute hepatic porphyria
Hereditary delta-aminolevulinic aciduria
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
ALAD deficiency
ALA dehydratase deficiency porphyria
ALADH deficiency
Delta-aminolevulinate dehydrase deficiency
Id64081000
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE79.8
TermOverige gespecificeerde stoornissen van purine- en pyrimidinemetabolisme
SNOMED CT to Orphanet simple map100924
SNOMED CT to ICD-10 extended map
TargetE80.2
RuleTRUE
AdviceALWAYS E80.2
CorrelationSNOMED CT source code to target map code correlation not specified