80908008: Ornithine carbamoyltransferase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Ornithine carbamoyltransferase deficiency
• \Sex-linked hereditary disorder\Ornithine carbamoyltransferase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Ornithine carbamoyltransferase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Hyperammonaemia\Ornithine carbamoyltransferase deficiency
• \Metabolic disease\Enzymopathy\Ornithine carbamoyltransferase deficiency
• \Congenital disease\Inborn error of metabolism\Ornithine carbamoyltransferase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
134206013	Ornithine carbamoyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
134207016	Ornithine transcarbamylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
134208014	OCTD	en	Synonym	Active	Case sensitive	SNOMED CT core
134209018	OCT deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
504541017	OTC - Ornithine transcarbamylase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
504542012	OCT - Ornithine carbamoyltransferase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
504543019	Deficiency of citrulline phosphorylase	en	Synonym	Active	Case insensitive	SNOMED CT core
504544013	Ornithine transcarbamoylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
504545014	Deficiency of ornithine carbamoyltransferase	en	Synonym	Active	Case insensitive	SNOMED CT core
504546010	Deficiency of ornithine transcarbamylase	en	Synonym	Active	Case insensitive	SNOMED CT core
822120013	Ornithine carbamoyltransferase deficiency (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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