51022005: Erythropoietic protoporphyria (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism\Congenital porphyria\Erythropoietic protoporphyria
\Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria

\Autosomal hereditary disorder\Erythropoietic protoporphyria

\Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism\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\Congenital porphyria\Erythropoietic protoporphyria
\Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism\Congenital porphyria\Erythropoietic protoporphyria
\Metabolic disease\Disorder of porphyrin metabolism\Ferrochelatase deficiency\Erythropoietic protoporphyria

\Congenital disease\Congenital porphyria\Erythropoietic protoporphyria
\Congenital disease\Inborn error of metabolism\Erythropoietic protoporphyria

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

Descriptions:

Id Description Lang Type Status Case? Module

85017013 Erythropoietic protoporphyria en Synonym Active Entire term case insensitive SNOMED CT core module
85018015 EPP en Synonym Active Entire term case sensitive SNOMED CT core module
85019011 Erythrohepatic protoporphyria en Synonym Active Entire term case insensitive SNOMED CT core module
85020017 Heme synthase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
85021018 Magnus syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
495877016 Protoporphyria en Synonym Active Entire term case insensitive SNOMED CT core module
495878014 EPP - Erythropoietic protoporphyria en Synonym Active Entire term case sensitive SNOMED CT core module
495879018 Haem synthase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
788876017 Erythropoietic protoporphyria (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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

This concept is not in any reference sets