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, Not sufficiently defined by necessary conditions definition status. Date: 28-Feb 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4696003018	X-linked dominant erythropoietic protoporphyria	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4696006014	X-linked dominant erythropoietic protoporphyria (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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