733083006: Congenital disorder of glycosylation type 1r (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 I\DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase 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 I\DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498696010	Dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3498697018	Congenital disorder of glycosylation type Ir	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3498698011	DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3498699015	Congenital disorder of glycosylation type 1r (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3498700019	Congenital disorder of glycosylation type 1r	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3498701015	Carbohydrate deficient glycoprotein syndrome type Ir	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3499962011	A form of congenital disorders of N-linked glycosylation with characteristics of failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).	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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