1228849007: Polyglucosan body myopathy type 2 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Polyglucosan body myopathy type 2
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Polyglucosan body myopathy type 2
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Polyglucosan body myopathy type 2
• \Chronic disease of musculoskeletal system\Polyglucosan body myopathy type 2
• \Disorder of skeletal muscle\Metabolic myopathy\Polyglucosan body myopathy type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Polyglucosan body myopathy type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Polyglucosan body myopathy type 2
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Polyglucosan body myopathy type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Polyglucosan body myopathy type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Polyglucosan body myopathy type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Polyglucosan body myopathy type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Polyglucosan body myopathy type 2
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Polyglucosan body myopathy type 2
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Polyglucosan body myopathy type 2
• \Disease\Metabolic disease\Chronic metabolic disorder\Polyglucosan body myopathy type 2
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Polyglucosan body myopathy type 2
• \Disease\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Polyglucosan body myopathy type 2
• \Disease\Chronic disease\Chronic metabolic disorder\Polyglucosan body myopathy type 2
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Polyglucosan body myopathy type 2
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Polyglucosan body myopathy type 2

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5063428016	Polyglucosan body myopathy type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
5063429012	Polyglucosan body myopathy type 2 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5063434011	PGBM2 - polyglucosan body myopathy type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
5063432010	A rare glycogen storage disease with characteristics of slowly progressive myopathy with storage of polyglucosan in muscle fibres. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.	en	Definition	Active	Case sensitive	SNOMED CT core
5063433017	A rare glycogen storage disease with characteristics of slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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