55912009: Glycogen storage disease, type V (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type V

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type V

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

\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type V

\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type V

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease, type V
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type V
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type V
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type V
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type V
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type V
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease, type V
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease, type V
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease, type V
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type V

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease, type V	Is a	Glycogen storage disease	false	Inferred relationship	Existential restriction modifier
Glycogen storage disease, type V	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
Glycogen storage disease, type V	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Glycogen storage disease, type V	Finding site	Liver structure	false	Inferred relationship	Existential restriction modifier
Glycogen storage disease, type V	Is a	Glycogen storage disease, muscular form	true	Inferred relationship	Existential restriction modifier

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
92984015	Glycogen storage disease, type V	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
92985019	Myophosphorylase deficiency glycogenosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
92986018	McArdle's disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
92987010	GSD V	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
92988017	Muscle glycogen phosphorylase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
497455012	Glycogenosis, type 5	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
497456013	McArdle disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
497457016	Glycogen storage disease type V	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
794359016	Glycogen storage disease, type V (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3035750013	Glycogen storage disease type 5	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module