724142005: Carbohydrate deficient glycoprotein syndrome type 2a (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\MGAT2-CDG - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\MGAT2-CDG - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase 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\MGAT2-CDG - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\MGAT2-CDG - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3431062013	Carbohydrate deficient glycoprotein syndrome type 2a (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3431063015	Carbohydrate deficient glycoprotein syndrome type 2a	en	Synonym	Active	Case insensitive	SNOMED CT core
3431064014	Carbohydrate deficient glycoprotein syndrome type IIa	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3431065010	Congenital disorder of glycosylation type 2a	en	Synonym	Active	Case insensitive	SNOMED CT core
3431066011	Congenital disorder of glycosylation type IIa	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3431067019	MGAT2-CDG - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3431068012	A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).	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

Description inactivation indicator reference set

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