69525003: Hereditary orotic aciduria, type 1 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Orotic aciduria\Hereditary orotic aciduria\Hereditary orotic aciduria, type 1
• \Metabolic disease\Disorder of purine and pyrimidine metabolism\Hereditary orotic aciduria, type 1
• \Metabolic disease\Disorder of pyrimidine metabolism\Orotic aciduria\Hereditary orotic aciduria\Hereditary orotic aciduria, type 1
• \Metabolic disease\Enzymopathy\Hereditary orotic aciduria\Hereditary orotic aciduria, type 1

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
115517010	Hereditary orotic aciduria, type 1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
115518017	Orotidylic pyrophosphorylase orotidylic decarboxylase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
115520019	UMP synthase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
115521015	OPRT AND OMP decarboxylase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
501313016	Combined orotic acid phosphoribosyltransferase and orotidine - 5 - phosphate decarboxylase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501314010	Hereditary orotic aciduria type 1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
501315011	UMPS - Uridine monophosphate synthase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
501316012	Uridine monophosphate synthase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
809480010	Hereditary orotic aciduria, type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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