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\Polyglucosan body myopathy type 2

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Polyglucosan body myopathy type 2

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Polyglucosan body myopathy type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Polyglucosan body myopathy type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Polyglucosan body myopathy type 2
\Disease\Disorder of muscle\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 (disorder)\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, 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

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

13770771000172118 'polyglucosan body myopathy' type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13770781000172115 myopathie met polyglucosanlichaampjes type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polyglucosan body myopathy type 2	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Polyglucosan body myopathy type 2	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Polyglucosan body myopathy type 2	Is a	Metabolic myopathy	true	Inferred relationship	Some
Polyglucosan body myopathy type 2	Is a	Glycogen storage disease	true	Inferred relationship	Some
Polyglucosan body myopathy type 2	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Polyglucosan body myopathy type 2	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Polyglucosan body myopathy type 2	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Polyglucosan body myopathy type 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Polyglucosan body myopathy type 2	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
13770771000172118	'polyglucosan body myopathy' type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13770781000172115	myopathie met polyglucosanlichaampjes type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)