ONKI3 | Medical Subject Headings

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Protoporphyria, Erythropoietic

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Porphyrias ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic 5 coordinate concepts ∟ Coproporphyria, Hereditary \| ∟ Porphyria Cutanea Tarda \| ∟ Porphyria, Acute Intermittent \| ∟ Porphyria, Hepatoerythropoietic \| ∟ Porphyria, Variegate Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Skin Diseases, Genetic ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic 5 coordinate concepts ∟ Coproporphyria, Hereditary \| ∟ Porphyria Cutanea Tarda \| ∟ Porphyria, Acute Intermittent \| ∟ Porphyria, Hepatoerythropoietic \| ∟ Porphyria, Variegate Medical Subject Headings (MeSH) ∟ Digestive System Diseases ∟ Liver Diseases ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic 5 coordinate concepts ∟ Coproporphyria, Hereditary \| ∟ Porphyria Cutanea Tarda \| ∟ Porphyria, Acute Intermittent \| ∟ Porphyria, Hepatoerythropoietic \| ∟ Porphyria, Variegate Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Porphyrias ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic 5 coordinate concepts ∟ Coproporphyria, Hereditary \| ∟ Porphyria Cutanea Tarda \| ∟ Porphyria, Acute Intermittent \| ∟ Porphyria, Hepatoerythropoietic \| ∟ Porphyria, Variegate Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Porphyrias ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic 5 coordinate concepts ∟ Coproporphyria, Hereditary \| ∟ Porphyria Cutanea Tarda \| ∟ Porphyria, Acute Intermittent \| ∟ Porphyria, Hepatoerythropoietic \| ∟ Porphyria, Variegate Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Skin Diseases, Metabolic ∟ Porphyrias ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic 5 coordinate concepts ∟ Coproporphyria, Hereditary \| ∟ Porphyria Cutanea Tarda \| ∟ Porphyria, Acute Intermittent \| ∟ Porphyria, Hepatoerythropoietic \| ∟ Porphyria, Variegate Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Skin Diseases, Genetic ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic 5 coordinate concepts ∟ Coproporphyria, Hereditary \| ∟ Porphyria Cutanea Tarda \| ∟ Porphyria, Acute Intermittent \| ∟ Porphyria, Hepatoerythropoietic \| ∟ Porphyria, Variegate Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Skin Diseases, Metabolic ∟ Porphyrias ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic 5 coordinate concepts ∟ Coproporphyria, Hereditary \| ∟ Porphyria Cutanea Tarda \| ∟ Porphyria, Acute Intermittent \| ∟ Porphyria, Hepatoerythropoietic \| ∟ Porphyria, Variegate X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Porphyrias ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Skin Diseases, Genetic ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic Medical Subject Headings (MeSH) ∟ Digestive System Diseases ∟ Liver Diseases ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Porphyrias ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Porphyrias ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Skin Diseases, Metabolic ∟ Porphyrias ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Skin Diseases, Genetic ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Skin Diseases, Metabolic ∟ Porphyrias ∟ Porphyrias, Hepatic ∟ Protoporphyria, Erythropoietic Porphyrias, Hepatic > Porphyrias > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Porphyrias, Hepatic > Skin Diseases, Genetic > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Porphyrias, Hepatic > Liver Diseases > Digestive System Diseases > Medical Subject Headings (MeSH) Porphyrias, Hepatic > Porphyrias > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Porphyrias, Hepatic > Porphyrias > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Porphyrias, Hepatic > Porphyrias > Skin Diseases, Metabolic > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Porphyrias, Hepatic > Skin Diseases, Genetic > Skin Diseases > Skin and Connective Tissue Diseases > Medical Subject Headings (MeSH) Porphyrias, Hepatic > Porphyrias > Skin Diseases, Metabolic > Skin Diseases > Skin and Connective Tissue Diseases > Medical Subject Headings (MeSH) X
Annotation:	do not confuse with PORPHYRIA, ERYTHROPOIETIC X
History note:	Porphyria (1965-2004) \| Porphyria, Erythrohepatic (1993-2004)X
historyNote*:	2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004 X
publicMeSHNote*:	2005; see PORPHYRIA, ERYTHROHEPATIC 1993-2004 X
Scope note:	An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces. X
activeMeSHYear*:	2007X
dateCreated*:	2004-07-15X
dateEstablished*:	2005-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	lktX
Type:	Concept X
Coordinate terms:	Coproporphyria, Hereditary \| Porphyria Cutanea Tarda \| Porphyria, Acute Intermittent \| Porphyria, Hepatoerythropoietic \| Porphyria, Variegate X
URI:	X
Labels and equivalent concepts:	Erytropoieettinen protoporfyria (fi) Protoporfyri, erytropoietisk (sv) Erytropoietisk protoporfyri (sv, replaced) Erythropoietic Protoporphyria (en, replaced) Protoporphyria erythropoietica (la-FI, replaced) Porphyria erythropoietica (la-FI, replaced) X
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