274864009: Glycogen storage disease, type II (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 due to acid maltase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease due to acid maltase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to acid maltase deficiency
• \Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease due to acid maltase deficiency
• \Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to acid maltase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2765038013	Glycogen storage disease, type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3297533010	Pompe's disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3297616011	Pompe disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3331980017	Glycogen storage disease due to acid maltase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3331981018	Alpha-1,4-glucosidase acid deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3331982013	Glycogenosis due to acid maltase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3331983015	Glycogenosis type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
410733010	Glycogen heart disease	en	Synonym	Active	Case insensitive	SNOMED CT core
667668013	Glycogen storage disease, type II (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3331984014	Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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