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\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\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:

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

Expanded Value Set

This concept is not in any reference sets

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