SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Congenital disease  66091009

Congenital porphyria  190913009

Congenital erythropoietic porphyria   22935002

SNOMED CT code


SNOMED code22935002
nameCongenital erythropoietic porphyria
statusactive
date introduced2002-01-31
fully specified name(s)Congenital erythropoietic porphyria (disorder)
synonyms
  • Uroporphyrinogen III synthase deficiency
  • CEP - Congenital erythropoietic porphyria
  • Congenital erythropoietic porphyria
  • Gunther's disease
  • Congenital photosensitive porphyria
  • Hematoporphyria congenita
  • Porphyria erythropoietica
  • Haematoporphyria congenita
attributes - group1
OccurrenceCongenital   255399007
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital porphyria   190913009
          Congenital erythropoietic porphyria   22935002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of porphyrin metabolism   29094004
          Porphyria   418470004
            Erythropoietic porphyria   67312003
              Congenital erythropoietic porphyria   22935002

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