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\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.

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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.

\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\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.

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\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.

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

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 Inactive 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
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.	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
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.	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
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	Inactive	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