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\Purine and pyrimidine metabolism disorder\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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