22935002: Congenital erythropoietic porphyria (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Congenital erythropoietic porphyria

\Disorder of foetus and/or newborn\Congenital disease\Congenital porphyria\Congenital erythropoietic porphyria

\Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Congenital erythropoietic porphyria
\Metabolic disease\Disorder of porphyrin metabolism\Porphyria\Congenital porphyria\Congenital erythropoietic porphyria
\Metabolic disease\Disorder of porphyrin metabolism\Porphyria\Erythropoietic porphyria\Congenital erythropoietic porphyria
\Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Congenital erythropoietic porphyria

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
Congenital erythropoietic porphyria	Is a	Erythropoietic porphyria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital erythropoietic porphyria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital erythropoietic porphyria	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital erythropoietic porphyria	Is a	Congenital porphyria	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
38524015	Congenital erythropoietic porphyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
38525019	Gunther's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
38526018	Congenital photosensitive porphyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
38528017	Hematoporphyria congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
38529013	Porphyria erythropoietica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481477016	Haematoporphyria congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
752399013	Congenital erythropoietic porphyria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1223000017	Uroporphyrinogen III synthase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1223001018	CEP - Congenital erythropoietic porphyria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
38524015	Congenital erythropoietic porphyria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
38524015	Congenital erythropoietic porphyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
38525019	Gunther's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
38526018	Congenital photosensitive porphyria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
38526018	Congenital photosensitive porphyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
38527010	Congenital porphyria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
38528017	Hematoporphyria congenita	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
38528017	Hematoporphyria congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
38529013	Porphyria erythropoietica	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
38529013	Porphyria erythropoietica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481477016	Haematoporphyria congenita	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
481477016	Haematoporphyria congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
752399013	Congenital erythropoietic porphyria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
752399013	Congenital erythropoietic porphyria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1223000017	Uroporphyrinogen III synthase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1223001018	CEP - Congenital erythropoietic porphyria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1223001018	CEP - Congenital erythropoietic porphyria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3408151001000111	Porphyrie, erythropoetische kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
899131000172110	CEP - congenital erythropoietic porphyria	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
957511000172117	porphyrie érythropoïétique congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
899131000172110	CEP - congenital erythropoietic porphyria	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
957511000172117	porphyrie érythropoïétique congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3408151001000111	Porphyrie, erythropoetische kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module