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Begreppsinformation

Föredragen term

Porphyria, Erythropoietic  

Typ

  • Topical Descriptor

Hänvisningstermer

  • Congenital Erythropoietic Porphyria
  • Congenital Erythropoietic Porphyrias
  • Erythropoietic Porphyria
  • Erythropoietic Porphyria, Congenital
  • Erythropoietic Porphyrias, Congenital
  • Gunther Disease
  • Gunther's Disease
  • Gunthers Disease
  • Porphyria, Congenital Erythropoietic
  • Porphyria, Erythropoietic, Congenital
  • Porphyrias, Congenital Erythropoietic

Anmärkning

  • do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC

Användningsanmärkning

  • An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.

Anmärkning om ändringshistoria

  • 1993

Termer på andra språk

  • finska

  • erytropoetisk protoporfyri
  • hereditär erytropoetisk porfyri
  • kongenital erytropoetisk porfyri
  • perinnöllinen erytropoieettinen porfyria
  • porphyria erythropoetica congenita
  • porphyria erythropoetica hereditaria
  • porphyria erythropoietica
  • protoporphyria erythropoetica
  • synnynnäinen erytropoieettinen porfyria
  • svenska

URI

http://www.yso.fi/onto/mesh/D017092

Ladda ned detta begrepp:

RDF/XML TURTLE JSON-LD Skapad 1992-05-22, senast editerad 2022-04-11