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

• SNOMED CT Concept\Clinical 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
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
• \Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
• \Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3323620017	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3323621018	Glycogen storage disease type 15	en	Synonym	Active	Case insensitive	SNOMED CT core
3323622013	Glycogen storage disease type XV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3323623015	Glycogenosis with severe cardiomyopathy due to glycogenin deficiency	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

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