Autosomal recessive hereditary disorder	Congenital porphyria	Inborn error of metabolism	Specific enzyme deficiency
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Porphobilinogen synthase deficiency (disorder)
	Porphobilinogen synthase deficiency
	delta-Aminolevulinic acid dehydratase deficiency Acute hepatic porphyria Hereditary delta-aminolevulinic aciduria ALA - Aminolevulinic acid dehydratase deficiency porphyria ALAD deficiency ALA dehydratase deficiency porphyria ALADH deficiency Delta-aminolevulinate dehydrase deficiency delta-Aminolevulinate dehydrase deficiency
	deficiëntie van porfobilinogeensynthase
	porfobilinogeensynthetasedeficiëntie

Id	64081000
Status	Primitive

Occurrence

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E80.2
Rule	TRUE
Advice	ALWAYS E80.2
Correlation	SNOMED CT source code to target map code correlation not specified