90093009: Hereditary orotic aciduria, type 2 (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Orotic aciduria (disorder)\Hereditary orotic aciduria\Hereditary orotic aciduria, type 2

\Metabolic disease\Disorder of purine and pyrimidine metabolism\Hereditary orotic aciduria, type 2
\Metabolic disease\Disorder of pyrimidine metabolism\Orotic aciduria (disorder)\Hereditary orotic aciduria\Hereditary orotic aciduria, type 2
\Metabolic disease\Enzymopathy\Hereditary orotic aciduria\Hereditary orotic aciduria, type 2

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary orotic aciduria, type 2	Is a	Hereditary orotic aciduria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary orotic aciduria, type 2	Is a	Disorder of purine and pyrimidine metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary orotic aciduria, type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary orotic aciduria, type 2	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
149333011	Hereditary orotic aciduria, type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
149334017	OMP decarboxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
149335016	Orotidine-5'-phosphate decarboxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
833125016	Hereditary orotic aciduria, type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235531012	Orotidine-5-phosphate decarboxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235532017	Hereditary orotic aciduria type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
149333011	Hereditary orotic aciduria, type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
149333011	Hereditary orotic aciduria, type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
149334017	OMP decarboxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
149335016	Orotidine-5'-phosphate decarboxylase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
149335016	Orotidine-5'-phosphate decarboxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
833125016	Hereditary orotic aciduria, type 2 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
833125016	Hereditary orotic aciduria, type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235531012	Orotidine-5-phosphate decarboxylase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1235531012	Orotidine-5-phosphate decarboxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235532017	Hereditary orotic aciduria type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6310461000241114	déficit en décarboxylase orotidylique de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6310471000241118	déficit en uridine monophosphate synthase de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6310481000241116	acidurie orotique héréditaire de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6310461000241114	déficit en décarboxylase orotidylique de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6310471000241118	déficit en uridine monophosphate synthase de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6310481000241116	acidurie orotique héréditaire de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module