1186810009: Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 (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\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
• \Disorder of foetus and/or newborn\Congenital disease\...
• \Congenital porphyria\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
• \Inborn error of metabolism\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 (disorder)\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 (disorder)\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

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

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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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 (core metadata concept)	SNOMED CT core
4667746013	Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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 (core metadata concept)	SNOMED CT core
6107631000241113	protoporphyrie érythropoïétique due à un gain de fonction de l'acide aminolévulinique synthase 2 spécifique aux cellules érythroïdes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6107641000241115	protoporphyrie érythropoïétique due à un gain de fonction de l'ALAS-2 (acide aminolévulinique synthase 2) spécifique aux cellules érythroïdes	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6107631000241113	protoporphyrie érythropoïétique due à un gain de fonction de l'acide aminolévulinique synthase 2 spécifique aux cellules érythroïdes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6107641000241115	protoporphyrie érythropoïétique due à un gain de fonction de l'ALAS-2 (acide aminolévulinique synthase 2) spécifique aux cellules érythroïdes	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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