1197360001: X-linked dominant erythropoietic protoporphyria (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria\A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
• \Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria\A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
• \Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
• \Autosomal hereditary disorder\Erythropoietic protoporphyria\A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
• \Disorder of foetus and/or newborn\Congenital disease\...
• \Congenital porphyria\Erythropoietic protoporphyria\A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
• \Inborn error of metabolism\Erythropoietic protoporphyria\A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
• \Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria\A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria\A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
• \Metabolic disease\Enzymopathy\Ferrochelatase deficiency\Erythropoietic protoporphyria\A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
• \Metabolic disease\Disorder of porphyrin metabolism\Porphyria\Congenital porphyria\Erythropoietic protoporphyria\A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
• \Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria\A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
• \Metabolic disease\Disorder of porphyrin metabolism\Ferrochelatase deficiency\Erythropoietic protoporphyria\A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4696003018	X-linked dominant erythropoietic protoporphyria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696006014	X-linked dominant erythropoietic protoporphyria (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399726017	A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399727014	A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696003018	X-linked dominant erythropoietic protoporphyria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696006014	X-linked dominant erythropoietic protoporphyria (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399726017	A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399727014	A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451571001000114	Protoporphyrie, erythropoetische, X-chromosomale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3451571001000114	Protoporphyrie, erythropoetische, X-chromosomale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start