725044000: Carbohydrate deficient glycoprotein syndrome type 1o (disorder)

• SNOMED CT Concept\Clinical finding (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\Carbohydrate deficient glycoprotein syndrome type 1o (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Carbohydrate deficient glycoprotein syndrome type 1o (disorder)
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Carbohydrate deficient glycoprotein syndrome type 1o (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Carbohydrate deficient glycoprotein syndrome type 1o (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437394016	Carbohydrate deficient glycoprotein syndrome type 1o	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437395015	Congenital disorder of glycosylation type 1o	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437396019	DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403371019	DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403372014	DPM3-CDG is an extremely rare form of CDG syndrome characterised clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437393010	Carbohydrate deficient glycoprotein syndrome type 1o (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437394016	Carbohydrate deficient glycoprotein syndrome type 1o	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437395015	Congenital disorder of glycosylation type 1o	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437396019	DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403371019	DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403372014	DPM3-CDG is an extremely rare form of CDG syndrome characterised clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3397441001000114	DPM3-CDG	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5777111000241111	syndrome des glycoprotéines déficientes en hydrates de carbone de type 1o	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5777131000241119	syndrome des glycoprotéines déficientes en glucides de type 1o	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5777141000241112	syndrome CDG (congenital disorders of glycosylation) de type 1o	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5777111000241111	syndrome des glycoprotéines déficientes en hydrates de carbone de type 1o	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5777131000241119	syndrome des glycoprotéines déficientes en glucides de type 1o	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5777141000241112	syndrome CDG (congenital disorders of glycosylation) de type 1o	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3397441001000114	DPM3-CDG	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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