Erythropoietic protoporphyria   51022005

SNOMED CT code


SNOMED code51022005
nameErythropoietic protoporphyria
statusactive
date introduced2002-01-31
fully specified name(s)Erythropoietic protoporphyria (disorder)
synonyms
  • Protoporphyria
  • Haem synthase deficiency
  • EPP - erythropoietic protoporphyria
  • Erythropoietic protoporphyria
  • Erythrohepatic protoporphyria
  • Heme synthase deficiency
  • Magnus syndrome
attributes - group1
OccurrenceCongenital   255399007
parents
children
  • Erythropoietic protoporphyria due to ferrochelatase deficiency   860859009
  • Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2   1186810009
  • Homozygous erythropoietic protoporphyria   238053006
  • X-linked dominant erythropoietic protoporphyria   1197360001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Erythropoietic protoporphyria   51022005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital porphyria   190913009
          Erythropoietic protoporphyria   51022005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of porphyrin metabolism   29094004
          Ferrochelatase deficiency   276265003
            Erythropoietic protoporphyria   51022005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Erythropoietic protoporphyria   51022005

ancestors
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