725044000: Carbohydrate deficient glycoprotein syndrome type 1o (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\DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 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\DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3437393010	Carbohydrate deficient glycoprotein syndrome type 1o (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3437394016	Carbohydrate deficient glycoprotein syndrome type 1o	en	Synonym	Active	Case insensitive	SNOMED CT core
3437395015	Congenital disorder of glycosylation type 1o	en	Synonym	Active	Case insensitive	SNOMED CT core
3437396019	DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3437397011	An extremely rare form of congenital disorder of glycosylation with clinical characteristics in the single reported case of muscle weakness, waddling gait and dilated cardiomyopathy. Caused by homozygous mutation in the DPM3 gene on chromosome 1q22.	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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