718750004: Component of oligomeric golgi complex 1 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\COG1 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\COG1 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\COG1 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\COG1 congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313728015	CDG2G - carbohydrate deficient glycoprotein syndrome type 2G	en	Synonym	Active	Case sensitive	SNOMED CT core
3313736012	Carbohydrate deficient glycoprotein syndrome type 2g	en	Synonym	Active	Case insensitive	SNOMED CT core
3313737015	Carbohydrate deficient glycoprotein syndrome type IIg	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3323076014	Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323077017	COG1 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3324357013	COG1 (component of oligomeric golgi complex 1) congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3324358015	Congenital disorder of glycosylation type IIg	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3327884010	Component of oligomeric golgi complex 1 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3313729011	An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.	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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