1186810009: erytropoëtische protoporfyrie door 'gain of function' van erytroïde aminolevulinezuursynthase 2 (aandoening)

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 (disorder)\...

\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 (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

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

13244371000146113 EPP door 'gain of function' van erytroïde vorm van ALAS-2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13309261000146110 erytropoëtische protoporfyrie door 'gain of function' van erytroïde aminolevulinezuursynthase 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13309271000146116 erytropoëtische protoporfyrie door 'gain of function' van ALASe nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13309281000146119 erytropoëtische protoporfyrie door 'gain of function' van erytroïde aminolevulinezuursynthase 2 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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

Type

Active

Source

Characteristic

Refinability

Group

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
13244371000146113	EPP door 'gain of function' van erytroïde vorm van ALAS-2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13309261000146110	erytropoëtische protoporfyrie door 'gain of function' van erytroïde aminolevulinezuursynthase 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13309271000146116	erytropoëtische protoporfyrie door 'gain of function' van ALASe	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13309281000146119	erytropoëtische protoporfyrie door 'gain of function' van erytroïde aminolevulinezuursynthase 2 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)