1228849007: Polyglucosan body myopathy type 2 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\A rare glycogen storage disease characterised by 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.
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\A rare glycogen storage disease characterised by 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.
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\A rare glycogen storage disease characterised by 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.
• \Chronic disease of musculoskeletal system\A rare glycogen storage disease characterised by 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.
• \Disorder of skeletal muscle\Metabolic myopathy (disorder)\A rare glycogen storage disease characterised by 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.
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\A rare glycogen storage disease characterised by 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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\A rare glycogen storage disease characterised by 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.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare glycogen storage disease characterised by 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.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\A rare glycogen storage disease characterised by 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.
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\A rare glycogen storage disease characterised by 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.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A rare glycogen storage disease characterised by 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.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\A rare glycogen storage disease characterised by 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.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy (disorder)\A rare glycogen storage disease characterised by 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.
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\A rare glycogen storage disease characterised by 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.
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\A rare glycogen storage disease characterised by 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.
• \Disease\Metabolic disease\Chronic metabolic disorder\A rare glycogen storage disease characterised by 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.
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\A rare glycogen storage disease characterised by 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.
• \Disease\Chronic disease\Chronic metabolic disorder\A rare glycogen storage disease characterised by 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.
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\A rare glycogen storage disease characterised by 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.
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\A rare glycogen storage disease characterised by 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.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5063428016	Polyglucosan body myopathy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5063429012	Polyglucosan body myopathy type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5063434011	PGBM2 - polyglucosan body myopathy type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400038014	A rare glycogen storage disease characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400039018	A rare glycogen storage disease characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5063428016	Polyglucosan body myopathy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5063429012	Polyglucosan body myopathy type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5063434011	PGBM2 - polyglucosan body myopathy type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400038014	A rare glycogen storage disease characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400039018	A rare glycogen storage disease characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3436081001000110	Polyglucosan-Körper-Myopatie Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3436081001000110	Polyglucosan-Körper-Myopatie Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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