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\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 (disorder)\X-linked dominant erythropoietic protoporphyria
• \Autosomal hereditary disorder\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital porphyria\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Inborn error of metabolism\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\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 (disorder)\Congenital porphyria\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria
• \Metabolic disease\Disorder of porphyrin metabolism\Ferrochelatase deficiency\Erythropoietic protoporphyria\X-linked dominant erythropoietic protoporphyria

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

Expanded Value Set

Reference Sets

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

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