Begreppsinformation
Föredragen term
Porphyria, Erythropoietic
Typ
-
Topical Descriptor
Överordnat begrepp
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
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