1186810009: Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inherited disorder of porphyrin metabolism\Congenital porphyria\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
• \Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
• \Autosomal hereditary disorder\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
• \Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism\Congenital porphyria\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
• \Metabolic disease\Enzymopathy\Ferrochelatase deficiency\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
• \Metabolic disease\Disorder of porphyrin metabolism\Porphyria\Congenital porphyria\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
• \Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism\Congenital porphyria\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
• \Metabolic disease\Disorder of porphyrin metabolism\Ferrochelatase deficiency\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
• \Congenital disease\Congenital porphyria\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
• \Congenital disease\Inborn error of metabolism\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Nov 2021. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4667746013	Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4667747016	Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

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