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

\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 (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\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

\Congenital disease (disorder)\Congenital porphyria\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
\Congenital disease (disorder)\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 (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

11866581000172114 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) Belgian module (core metadata concept)

11866591000172112 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 Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7376861000172112 erytropoëtische protoporfyrie door 'gain of function' van ALASe nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7376871000172115 erytropoëtische protoporfyrie door 'gain of function' van erytroïde aminolevulinezuursynthase 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7376881000172117 EPP door 'gain of function' van erytroïde vorm van ALAS-2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2	Is a	Erythropoietic protoporphyria	true	Inferred relationship	Some
Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set

Back to Start

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
11866581000172114	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)	Belgian module (core metadata concept)
11866591000172112	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	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7376861000172112	erytropoëtische protoporfyrie door 'gain of function' van ALASe	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7376871000172115	erytropoëtische protoporfyrie door 'gain of function' van erytroïde aminolevulinezuursynthase 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7376881000172117	EPP door 'gain of function' van erytroïde vorm van ALAS-2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)