190913009: Congenital porphyria (disorder)

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

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

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

293541015 Congenital porphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

574553012 Congenital porphyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

293541015 Congenital porphyria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

293541015 Congenital porphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

574553012 Congenital porphyria (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

574553012 Congenital porphyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

76201000077119 porphyrie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

76201000077119 porphyrie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital porphyria	Is a	Disorder of porphyrin and hem metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital porphyria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital porphyria	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital porphyria	Is a	Disorder of porphyrin metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital porphyria	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital porphyria	Is a	Inherited disorder of porphyrin metabolism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital porphyria	Is a	Porphyria	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital erythropoietic porphyria	Is a	True	Congenital porphyria	Inferred relationship	Existential restriction modifier (core metadata concept)
Erythropoietic protoporphyria	Is a	True	Congenital porphyria	Inferred relationship	Existential restriction modifier (core metadata concept)
Porphobilinogen synthase deficiency (disorder)	Is a	True	Congenital porphyria	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets