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Porphyria, Erythropoietic
Hierarchy: | ∟ ∟ ∟ ∟ ∟ Porphyria, Erythropoietic 23 coordinate concepts∟ ∟ ∟ ∟ Porphyria, Erythropoietic 23 coordinate concepts∟ ∟ ∟ ∟ ∟ Porphyria, Erythropoietic 23 coordinate concepts∟ ∟ ∟ ∟ Porphyria, Erythropoietic 23 coordinate concepts∟ ∟ ∟ ∟ ∟ Porphyria, Erythropoietic 23 coordinate concepts∟ ∟ ∟ ∟ Porphyria, Erythropoietic 23 coordinate concepts∟ ∟ ∟ ∟ ∟ Porphyria, Erythropoietic 23 coordinate conceptsX |
Broader terms: | ∟ ∟ ∟ ∟ ∟ Porphyria, Erythropoietic ∟ ∟ ∟ ∟ Porphyria, Erythropoietic ∟ ∟ ∟ ∟ ∟ Porphyria, Erythropoietic ∟ ∟ ∟ ∟ Porphyria, Erythropoietic ∟ ∟ ∟ ∟ ∟ Porphyria, Erythropoietic ∟ ∟ ∟ ∟ Porphyria, Erythropoietic ∟ ∟ ∟ ∟ ∟ Porphyria, Erythropoietic |
Annotation: | do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC
X |
History note: | Porphyria (1966-1992)X |
historyNote*: | 93
X |
publicMeSHNote*: | 93
X |
Scope note: | 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.
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1992-05-22X |
dateEstablished*: | 1993-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | PXPX |
Type: | |
Coordinate terms: | |
URI: | |
Labels and equivalent concepts: | Erytropoieettinen protoporfyria (fi) XSynnynnäinen erytropoieettinen porfyria (fi, replaced) Porfyria, erytropoieettinen proto- (fi, replaced) Perinnöllinen erytropoieettinen porfyria (fi, replaced) Erytropoieettinen porfyria (fi, replaced) Porfyri, erytropoetisk (sv) Gunther Disease (en, replaced) Erythropoietic Porphyria (en, replaced) Gunther's Disease (en, replaced) Porphyria, Erythropoietic, Congenital (en, replaced) Congenital Erythropoietic Porphyria (en, replaced) Porphyria erythropoetica congenita (la-FI, replaced) Porphyria erythropoetica hereditaria (la-FI, replaced) Porphyria erythropoietica (la-FI, replaced) Protoporphyria erythropoietica (la-FI, replaced) |
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