1162916008: Glycogen storage disease due to muscle beta-enolase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency

\Muscle finding (finding)\Disorder of muscle\...

\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency

\Secondary myopathy\Glycogen storage disease due to muscle beta-enolase deficiency

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency

\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency

\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 due to muscle beta-enolase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease due to muscle beta-enolase deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency
\Disease\Disorder of muscle\Secondary myopathy\Glycogen storage disease due to muscle beta-enolase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Glycogen storage disease, muscular form\Glycogen storage disease due to muscle beta-enolase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease due to muscle beta-enolase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to muscle beta-enolase deficiency	Due to	Deficiency of enolase	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glycogen storage disease due to muscle beta-enolase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease due to muscle beta-enolase deficiency	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease due to muscle beta-enolase deficiency	Is a	Glycogen storage disease, muscular form	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to muscle beta-enolase deficiency	Is a	Secondary myopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
4592214012	Glycogen storage disease due to muscle beta-enolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592215013	Glycogenosis type 13	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592216014	Muscle enolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592217017	Glycogen storage disease due to muscle beta-enolase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592218010	Glycogenosis due to muscle beta-enolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592220013	GSDXIII - glycogen storage disease type XIII	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399288019	A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399289010	A rare glycolysis disorder characterised clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4592214012	Glycogen storage disease due to muscle beta-enolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592215013	Glycogenosis type 13	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592216014	Muscle enolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592217017	Glycogen storage disease due to muscle beta-enolase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592218010	Glycogenosis due to muscle beta-enolase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592220013	GSDXIII - glycogen storage disease type XIII	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4592219019	Muscle beta-enolase deficiency is a glycolysis with clinical characteristics of exercise intolerance and myalgia due to severe enolase deficiency in muscle.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399288019	A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399289010	A rare glycolysis disorder characterised clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3444631001000110	Glykogenose durch muskulären beta-Enolase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6287741000241110	glycogénose par déficit en bêta-énolase musculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6287751000241113	maladie du stockage du glycogène due à un déficit en bêta-énolase musculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6287761000241111	glycogénose de type 13	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6287741000241110	glycogénose par déficit en bêta-énolase musculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6287751000241113	maladie du stockage du glycogène due à un déficit en bêta-énolase musculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6287761000241111	glycogénose de type 13	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3444631001000110	Glykogenose durch muskulären beta-Enolase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module