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717821004: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)

\Metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)
\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3323619011 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323620017 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323621018 Glycogen storage disease type 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323622013 Glycogen storage disease type XV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3323623015 Glycogenosis with severe cardiomyopathy due to glycogenin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323625010 An extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. Caused by compound heterozygous mutation in the glycogenin 1 (GYG1) gene, which encodes glycogenin-1, on chromosome 3q24. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3935911000052118 glykogeninlagringssjukdom med svår kardiomyopati orsakad av glykogeninbrist sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)	Is a	Glycogen storage disease	true	Inferred relationship	Some
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323619011	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323620017	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323621018	Glycogen storage disease type 15	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323622013	Glycogen storage disease type XV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323623015	Glycogenosis with severe cardiomyopathy due to glycogenin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323625010	An extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. Caused by compound heterozygous mutation in the glycogenin 1 (GYG1) gene, which encodes glycogenin-1, on chromosome 3q24.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3935911000052118	glykogeninlagringssjukdom med svår kardiomyopati orsakad av glykogeninbrist	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)