51022005: erytropoëtische protoporfyrie (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
\Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria

\Autosomal hereditary disorder\Erythropoietic protoporphyria

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital porphyria\Erythropoietic protoporphyria

\Inborn error of metabolism\Erythropoietic protoporphyria

\Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria
\Metabolic disease\Enzymopathy\Ferrochelatase deficiency\Erythropoietic protoporphyria
\Metabolic disease\Disorder of porphyrin metabolism\Porphyria (disorder)\Congenital porphyria\Erythropoietic protoporphyria
\Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria
\Metabolic disease\Disorder of porphyrin metabolism\Ferrochelatase deficiency\Erythropoietic protoporphyria

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Erythropoietic protoporphyria	Is a	Ferrochelatase deficiency	true	Inferred relationship	Some
Erythropoietic protoporphyria	Is a	Porphyria	false	Inferred relationship	Some
Erythropoietic protoporphyria	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Erythropoietic protoporphyria	Finding site	Body system structure	false	Inferred relationship	Some
Erythropoietic protoporphyria	Occurrence	Congenital	true	Inferred relationship	Some	1
Erythropoietic protoporphyria	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Erythropoietic protoporphyria	Is a	Congenital porphyria	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Homozygous erythropoietic protoporphyria	Is a	True	Erythropoietic protoporphyria	Inferred relationship	Some
Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)	Is a	True	Erythropoietic protoporphyria	Inferred relationship	Some
Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2	Is a	True	Erythropoietic protoporphyria	Inferred relationship	Some
X-linked dominant erythropoietic protoporphyria	Is a	True	Erythropoietic protoporphyria	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
85017013	Erythropoietic protoporphyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
85018015	EPP	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
85019011	Erythrohepatic protoporphyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
85020017	Heme synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
85021018	Magnus syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
495877016	Protoporphyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
495878014	EPP - Erythropoietic protoporphyria	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
495879018	Haem synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
788876017	Erythropoietic protoporphyria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5244046017	EPP - erythropoietic protoporphyria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
351001000146117	erytropoëtische protoporfyrie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
351011000146115	erytropoëtische protoporfyrie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10795041000146119	Erytropoëtische protoporfyrie; erfelijke stofwisselingsaandoening met als kenmerk overgevoeligheid voor licht, met blaren en verlittekening van de huid.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)