721100009: Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\COG5 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\COG5 congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\COG5 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\COG5 congenital disorder of glycosylation

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3319125016	Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3319128019	COG5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3319257014	Component of oligomeric golgi complex 5 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3319258016	COG5 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3323500010	Carbohydrate deficient glycoprotein syndrome type IIi	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3323501014	Congenital disorder of glycosylation type IIi	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3323502019	CDG2I - carbohydrate deficient glycoprotein syndrome type IIi	en	Synonym	Active	Case sensitive	SNOMED CT core
5155229010	An extremely rare form of carbohydrate deficient glycoprotein syndrome with clinical characteristics in the single reported case to date of moderate intellectual disability with slow and inarticulate speech, truncal ataxia and mild hypotonia.	en	Definition	Active	Case sensitive	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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