Autosomal hereditary disorder
Congenital porphyria
Ferrochelatase deficiency
Inborn error of metabolism
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Erythropoietic protoporphyria (disorder)
Erythropoietic protoporphyria
Erythrohepatic protoporphyria
Magnus syndrome
EPP
Heme synthase deficiency
EPP - Erythropoietic protoporphyria
Protoporphyria
erytropoëtische protoporfyrie
EPP
Erytropoëtische protoporfyrie; erfelijke stofwisselingsaandoening met als kenmerk overgevoeligheid voor licht, met blaren en verlittekening van de huid.
Id51022005
StatusPrimitive
OccurrenceCongenital
PALGA thesaurus simple reference set for pathology
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE80.0
RuleTRUE
AdviceALWAYS E80.0
CorrelationSNOMED CT source code to target map code correlation not specified
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Erythropoietic protoporphyria due to ferrochelatase deficiency
Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
Homozygous erythropoietic protoporphyria
X-linked dominant erythropoietic protoporphyria