1197360001: X-linked dominant erythropoietic protoporphyria (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inherited disorder of porphyrin metabolism\Congenital porphyria\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\X-linked dominant erythropoietic protoporphyria
• \Autosomal hereditary disorder\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism\Congenital porphyria\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Metabolic disease\Enzymopathy\Ferrochelatase deficiency\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Metabolic disease\Disorder of porphyrin metabolism\Porphyria\Congenital porphyria\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism\Congenital porphyria\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Metabolic disease\Disorder of porphyrin metabolism\Ferrochelatase deficiency\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Congenital disease\Congenital porphyria\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Congenital disease\Inborn error of metabolism\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4696003018	X-linked dominant erythropoietic protoporphyria	en	Synonym	Active	Case sensitive	SNOMED CT core
4696006014	X-linked dominant erythropoietic protoporphyria (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4696004012	A rare disorder of porphyrin and haem metabolism characterised by infantile or childhood onset of severe cutaneous photosensitivity in affected males, presenting as tingling, burning, and itching within minutes of light exposure, often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe.	en	Definition	Active	Case sensitive	SNOMED CT core
4696005013	A rare disorder of porphyrin and heme metabolism characterized by infantile or childhood onset of severe cutaneous photosensitivity in affected males, presenting as tingling, burning, and itching within minutes of light exposure, often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

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