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

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic 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)
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)
• \Metabolic disease\Hereditary 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)

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
5401610011	A rare autosomal recessive glycogen storage disease characterized by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401611010	A rare autosomal recessive glycogen storage disease characterised by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323619011	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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	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
5401610011	A rare autosomal recessive glycogen storage disease characterized by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401611010	A rare autosomal recessive glycogen storage disease characterised by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3417531001000111	Glykogenose mit schwerer Kardiomyopathie durch Glycogenin-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
939971000172112	GSD avec cardiomyopathie sévère par déficit en glycogénine	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
962321000172114	glycogénose avec cardiomyopathie sévère par déficit en glycogénine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
939971000172112	GSD avec cardiomyopathie sévère par déficit en glycogénine	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
962321000172114	glycogénose avec cardiomyopathie sévère par déficit en glycogénine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3417531001000111	Glykogenose mit schwerer Kardiomyopathie durch Glycogenin-Mangel	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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