15978003: Glycogen storage disease, muscular form (disorder)

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

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

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease, muscular form
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease, muscular form	Is a	Glycogen storage disease	true	Inferred relationship	Some
Glycogen storage disease, muscular form	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Glycogen storage disease, muscular form	Finding site	Liver structure	false	Inferred relationship	Some
Glycogen storage disease, muscular form	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen storage disease, muscular form	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Glycogen storage disease, muscular form	Is a	Metabolic myopathy	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glycogen storage disease, type IV	Is a	True	Glycogen storage disease, muscular form	Inferred relationship	Some
A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.	Is a	False	Glycogen storage disease, muscular form	Inferred relationship	Some
Glycogen storage disease, type V	Is a	True	Glycogen storage disease, muscular form	Inferred relationship	Some
Glycogen storage disease type III	Is a	True	Glycogen storage disease, muscular form	Inferred relationship	Some
Glycogen storage disease, type VII	Is a	True	Glycogen storage disease, muscular form	Inferred relationship	Some
Equine polysaccharide storage myopathy	Is a	False	Glycogen storage disease, muscular form	Inferred relationship	Some
A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.	Is a	True	Glycogen storage disease, muscular form	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
27053017	Glycogen storage disease, muscular form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
742910014	Glycogen storage disease, muscular form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6249061000241112	maladie du stockage du glycogène de forme musculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6249071000241116	glycogénose musculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6249091000241117	GSD (glycogen storage disease) musculaire	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module