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73297009: Muscular dystrophy (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy

\Muscle finding\Disorder of skeletal AND/OR smooth muscle (disorder)\...

\Degenerative disorder of muscle\Muscular dystrophy

\Disorder of skeletal muscle\Muscular dystrophy

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

\Degenerative disorder of musculoskeletal system\Muscular dystrophy

\Chronic disease of musculoskeletal system\Muscular dystrophy

\Disorder of skeletal muscle\Muscular dystrophy

\Disease\Genetic disease\Muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy
\Disease\Disorder of skeletal AND/OR smooth muscle (disorder)\Degenerative disorder of muscle\Muscular dystrophy
\Disease\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\Muscular dystrophy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy
\Disease\Developmental disorder\Muscular dystrophy

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2004. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Muscular dystrophy	Is a	Myopathy	false	Inferred relationship	Some
Muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Muscular dystrophy	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Muscular dystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Muscular dystrophy	Is a	Lesion of skeletal muscle (disorder)	false	Inferred relationship	Some
Muscular dystrophy	Is a	Degenerative disorder	false	Inferred relationship	Some
Muscular dystrophy	Is a	Lesion of soft tissue (disorder)	false	Inferred relationship	Some
Muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Muscular dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Muscular dystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Muscular dystrophy	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Muscular dystrophy	Is a	Developmental disorder	true	Inferred relationship	Some
Muscular dystrophy	Clinical course	Progressive	true	Inferred relationship	Some	2
Muscular dystrophy	Is a	Degenerative disorder of musculoskeletal system	true	Inferred relationship	Some
Muscular dystrophy	Is a	Degenerative disorder of muscle	true	Inferred relationship	Some
Muscular dystrophy	Is a	Genetic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Muscular dystrophy not predominantly limb girdle in distribution	Is a	True	Muscular dystrophy	Inferred relationship	Some
Muskeldystrofi – døvstumhedssyndrom	Is a	False	Muscular dystrophy	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Is a	False	Muscular dystrophy	Inferred relationship	Some
Dilated cardiomyopathy due to muscular dystrophy (disorder)	Is a	False	Muscular dystrophy	Inferred relationship	Some
Okulær muskeldystrofi	Is a	False	Muscular dystrophy	Inferred relationship	Some
Erbs muskulære dystrofi	Is a	False	Muscular dystrophy	Inferred relationship	Some
Limb girdle-muskeldystrofi	Is a	False	Muscular dystrophy	Inferred relationship	Some
Benign congenital myopathy	Is a	False	Muscular dystrophy	Inferred relationship	Some
Hereditary progressive muscular dystrophy	Is a	True	Muscular dystrophy	Inferred relationship	Some
Pelvismuskeldystrofi	Is a	False	Muscular dystrophy	Inferred relationship	Some
Menopausalt muskeldystrofisyndrom	Is a	False	Muscular dystrophy	Inferred relationship	Some
Becker's muscular dystrophy	Is a	False	Muscular dystrophy	Inferred relationship	Some
Scapuloperoneal muscular dystrophy	Is a	True	Muscular dystrophy	Inferred relationship	Some
Kongenit hereditær muskeldystrofi, ikke nærmere specificeret	Is a	False	Muscular dystrophy	Inferred relationship	Some
Anden limb girdle-muskeldystrofi	Is a	False	Muscular dystrophy	Inferred relationship	Some
hereditær progredierende muskeldystrofi, ikke nærmere specificeret	Is a	False	Muscular dystrophy	Inferred relationship	Some
anden specificeret hereditær progredierende muskeldystrofi	Is a	False	Muscular dystrophy	Inferred relationship	Some
FH: Muscular dystrophy	Associated finding	False	Muscular dystrophy	Inferred relationship	Some	1
Severe childhood autosomal recessive muscular dystrophy	Is a	False	Muscular dystrophy	Inferred relationship	Some
Congenital muscular hypertrophy-cerebral syndrome	Is a	False	Muscular dystrophy	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Is a	False	Muscular dystrophy	Inferred relationship	Some
Dilated cardiomyopathy due to muscular dystrophy (disorder)	Associated with	False	Muscular dystrophy	Inferred relationship	Some	2
Restrictive lung disease due to muscular dystrophy (disorder)	Due to	True	Muscular dystrophy	Inferred relationship	Some	1
FH: Muscular dystrophy	Associated finding	True	Muscular dystrophy	Inferred relationship	Some	1
FH: Muscular dystrophy	Associated finding	False	Muscular dystrophy	Inferred relationship	Some	1
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene.	Is a	False	Muscular dystrophy	Inferred relationship	Some
Emery-Dreifuss muscular dystrophy	Is a	True	Muscular dystrophy	Inferred relationship	Some
Dilated cardiomyopathy due to muscular dystrophy (disorder)	Due to	True	Muscular dystrophy	Inferred relationship	Some	2

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
121721014	Muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
502401012	MD - Muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502403010	Progressive muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
502404016	PMD - Progressive muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
813669015	Muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2008651000005118	muskeldystrofi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)