22935002: Congenital erythropoietic porphyria (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Congenital erythropoietic porphyria

\trouble métabolique\Disorder of porphyrin metabolism\...

\Porphyria (disorder)\Congenital porphyria\Congenital erythropoietic porphyria
\Porphyria (disorder)\Erythropoietic porphyria\Congenital erythropoietic porphyria

\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Congenital erythropoietic porphyria

\Congenital disease\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:

Id Description Lang Type Status Case? Module

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 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

406711000241112 porphyrie érythropoïétique congénitale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

899131000172110 CEP - congenital erythropoietic porphyria fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

957511000172117 porphyrie érythropoïétique congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital erythropoietic porphyria	est un(e) (attribut)	Congenital porphyria	true	Inferred relationship	Some
Congenital erythropoietic porphyria	est un(e) (attribut)	Erythropoietic porphyria	true	Inferred relationship	Some
Congenital erythropoietic porphyria	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital erythropoietic porphyria	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

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Active

Source

Characteristic

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This concept is not in any reference sets