717773005: Component of oligomeric golgi complex 7 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\COG7 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\COG7 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\COG7 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\COG7 congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3319259012	Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3319260019	Component of oligomeric golgi complex 7 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3319261015	COG7 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3319262010	COG7 (component of oligomeric golgi complex 7) congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3319266013	Carbohydrate deficient glycoprotein syndrome type IIe	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3320476016	Congenital disorder of glycosylation type 2e	en	Synonym	Active	Case insensitive	SNOMED CT core
3320477013	Congenital disorder of glycosylation type IIe	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322951015	Syndrome with characteristics of dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. It has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.	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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