717774004: Component of oligomeric golgi complex 8 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\COG8 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\COG8 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\COG8 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\COG8 congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322952010	Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323499018	COG8 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3323512014	COG8 (component of oligomeric golgi complex 8) congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3323513016	Carbohydrate deficient glycoprotein syndrome type IIh	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3323514010	Component of oligomeric golgi complex 8 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3323515011	Congenital disorder of glycosylation type 2h	en	Synonym	Active	Case insensitive	SNOMED CT core
3323516012	Congenital disorder of glycosylation type IIh	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3323517015	Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.	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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