783717008: Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Phosphoglucomutase 1-related congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phosphoglucomutase 1-related congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Phosphoglucomutase 1-related congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Phosphoglucomutase 1-related congenital disorder of glycosylation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3759916016	PGM1-related congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3759917013	Congenital disorder of glycosylation type It	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3759918015	Congenital disorder of glycosylation type 1t	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3759919011	PGM1-CDG - Phosphoglucomutase 1-related congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3759920017	Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3759921018	Phosphoglucomutase 1-related congenital disorder of glycosylation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3759922013	Phosphoglucomutase-1 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

Back to Start