22935002: Congenital erythropoietic porphyria (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism\Congenital porphyria\Congenital erythropoietic porphyria
• \Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism\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\Congenital porphyria\Congenital erythropoietic porphyria
• \Congenital disease\Congenital porphyria\Congenital erythropoietic porphyria

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1223000017	Uroporphyrinogen III synthase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1223001018	CEP - Congenital erythropoietic porphyria	en	Synonym	Active	Case sensitive	SNOMED CT core
38524015	Congenital erythropoietic porphyria	en	Synonym	Active	Case insensitive	SNOMED CT core
38525019	Gunther's disease	en	Synonym	Active	Case sensitive	SNOMED CT core
38526018	Congenital photosensitive porphyria	en	Synonym	Active	Case insensitive	SNOMED CT core
38527010	Congenital porphyria	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
38528017	Hematoporphyria congenita	en	Synonym	Active	Case insensitive	SNOMED CT core
38529013	Porphyria erythropoietica	en	Synonym	Active	Case insensitive	SNOMED CT core
481477016	Haematoporphyria congenita	en	Synonym	Active	Case insensitive	SNOMED CT core
752399013	Congenital erythropoietic porphyria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start