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 (disorder)\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 (disorder)\Congenital porphyria\Congenital erythropoietic porphyria
\Metabolic disease\Disorder of porphyrin metabolism\Porphyria (disorder)\Erythropoietic porphyria (disorder)\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:

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital erythropoietic porphyria	Is a	Erythropoietic porphyria (disorder)	true	Inferred relationship	Some
Congenital erythropoietic porphyria	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital erythropoietic porphyria	Finding site	Body system structure	false	Inferred relationship	Some
Congenital erythropoietic porphyria	Is a	Congenital porphyria	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets