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Porphyria, Hepatoerythropoietic
Hierarchy: | ∟ ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic 5 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic 5 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic 5 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic 5 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic 5 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic 5 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic 5 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic 5 coordinate concepts∟ ∟ ∟ ∟ ∟ |
Broader terms: | ∟ ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic ∟ ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic ∟ ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic ∟ ∟ ∟ ∟ ∟ ∟ Porphyria, Hepatoerythropoietic |
Annotation: | do not confuse with PORPHYRIAS, HEPATIC or PORPHYRIA, ERYTHROPOIETIC
X |
History note: | Porphyria (1966-1992)X |
historyNote*: | 2005 (1993)
X |
publicMeSHNote*: | 2005; see PORPHYRIA, ERYTHROHEPATIC 1993-2004
X |
Scope note: | An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1992-05-22X |
dateEstablished*: | 1993-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | PXPX |
Type: | |
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Labels and equivalent concepts: | Hepatoerytropoieettinen porfyria (fi) XPorfyria, hepatoerytropoieettinen (fi, replaced) Porfyri, hepatoerytropoietisk (sv) Porphyria, Erythrohepatic (en, replaced) Hepatoerythropoietic Porphyria (en, replaced) Porphyria hepatoerythropoietica (la-FI, replaced) |
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