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\Disorder of skeletal AND/OR smooth 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 skeletal AND/OR smooth 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\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. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5063428016 Polyglucosan body myopathy type 2 en Synonym Active Entire term case insensitive SNOMED CT core module
5063429012 Polyglucosan body myopathy type 2 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
5063434011 PGBM2 - polyglucosan body myopathy type 2 en Synonym Active Entire term case sensitive SNOMED CT core module

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	Existential restriction modifier
Polyglucosan body myopathy type 2	Is a	Chronic metabolic disorder	true	Inferred relationship	Existential restriction modifier
Polyglucosan body myopathy type 2	Is a	Metabolic myopathy	true	Inferred relationship	Existential restriction modifier
Polyglucosan body myopathy type 2	Is a	Glycogen storage disease	true	Inferred relationship	Existential restriction modifier
Polyglucosan body myopathy type 2	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Polyglucosan body myopathy type 2	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Polyglucosan body myopathy type 2	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2
Polyglucosan body myopathy type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Polyglucosan body myopathy type 2	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5063428016	Polyglucosan body myopathy type 2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5063429012	Polyglucosan body myopathy type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5063434011	PGBM2 - polyglucosan body myopathy type 2	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module