127954009: Skeletal muscle structure (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\Body organ structure\Structure of striated muscle and/or smooth muscle (body structure)\...

\Structure of striated muscle\Skeletal muscle structure

\Skeletal and/or smooth muscle structure (body structure)\Skeletal muscle structure

\Body system structure\Structure of musculoskeletal system\Skeletal muscle system structure\Skeletal muscle and/or tendon structure\Skeletal muscle structure

\Body tissue structure\Structure of soft tissue (body structure)\Skeletal muscle structure

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
Skeletal muscle structure	Is a	Skeletal muscle system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Skeletal muscle structure	Is a	Skeletal and/or smooth muscle structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Skeletal muscle structure	partie de	Entire skeletal muscle system (body structure)	false	Additional relationship (core metadata concept)	Existential restriction modifier (core metadata concept)
Skeletal muscle structure	Is a	Structure of soft tissue (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Skeletal muscle structure	Is a	Skeletal muscle and/or tendon structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Skeletal muscle structure	Is a	Structure of striated muscle	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Injury of muscle(s) and tendon(s) of anterior muscle group at lower leg level	Finding site	False	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Injury of muscle(s) and tendon(s) of peroneal muscle group at lower leg level	Finding site	False	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Injury of muscle and tendon at ankle and foot level (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Injury of muscle and tendon of long flexor muscle of toe at ankle and foot level	Finding site	False	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Injury of muscle and tendon of long extensor muscle of toe at ankle and foot level (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Structure of extraocular muscle	Is a	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)
Orbital myositis of left eye (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Orbital myositis of right eye	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Orbital myositis of bilateral eyes (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Rhabdomyolysis due to disease caused by severe acute respiratory syndrome coronavirus 2 (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Myopathy due to calcium deficiency (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Huntington's chorea	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Juvenile onset Huntington's disease	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Late onset Huntington's disease (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Akinetic-rigid form of Huntington's disease	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Hypotonic-hyporesponsive episode (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital muscular dystrophy type 1D large gene mutation (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Crush syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neostigmine test (procedure)	Procedure site - Indirect (attribute)	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ice pack test	Procedure site - Indirect (attribute)	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Crush syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Paresis of left vocal cord	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Paresis of right vocal cord	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Bilateral partial vocal cord paralysis (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Nontraumatic intramuscular hematoma	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fibrous dysplasia of bone with intramuscular myxoma	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neonatal neuromuscular disorder	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypomyopathic juvenile dermatomyositis	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Juvenile dermatomyositis overlap syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Juvenile polymyositis due to paraneoplastic syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Polymyositis overlap syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dermatomyositis overlap syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Sporadic inclusion body myositis (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Paroxysmal rhabdomyolysis (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephalus, brain defect, spasticity, hypernatremia syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Cervical trigger point syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive Emery-Dreifuss muscular dystrophy	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked Emery-Dreifuss muscular dystrophy	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glycogen storage disease due to muscle beta-enolase deficiency	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mycobacterial myositis	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Adenylosuccinate synthetase-like 1-related distal myopathy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
POGLUT1-related limb girdle muscular dystrophy R21	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Allan-Herndon-Dudley syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Combined oxidative phosphorylation defect type 30	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital generalized hypercontractile muscle stiffness syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Myotonic dystrophy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
BVES-related limb girdle muscular dystrophy	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
LIMS2-related limb girdle muscular dystrophy	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Glycogen storage disease due to lactate dehydrogenase deficiency	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intellectual disability, epilepsy, extrapyramidal syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Maternally inherited mitochondrial myopathy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Maternally inherited mitochondrial cardiomyopathy (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mitochondrial respiratory chain complex I structural subunit gene defect	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mitochondrial respiratory chain complex I assembly gene defect	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Typical nemaline myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Childhood-onset nemaline myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Actin accumulation myopathy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amish nemaline myopathy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intermediate nemaline myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Severe congenital nemaline myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive central core disease	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant central core disease	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital fiber-type disproportion myopathy due to ZAK mutation	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital fiber-type disproportion myopathy due to SELENON mutation	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation.	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital fibre-type disproportion myopathy due to TPM3 mutation	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital fiber-type disproportion myopathy due to MYH7 mutation	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Myasthenia gravis in remission	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Progressive scapulohumeroperoneal distal myopathy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal dominant mitochondrial myopathy with exercise intolerance	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Intramuscular injection of human anti-D immunoglobulin	Procedure site - Indirect (attribute)	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare glycogen storage disease characterised by slowly progressive myopathy with storage of polyglucosan in muscle fibres. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Megaconial congenital muscular dystrophy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megaconial congenital muscular dystrophy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.	Finding site	True	Skeletal muscle structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1241017	Skeletal muscle	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
474270014	Skeletal muscle structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
731896016	Skeletal muscle structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1241017	Skeletal muscle	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1241017	Skeletal muscle	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
205212012	Striated muscle	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
205212012	Striated muscle	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
474270014	Skeletal muscle structure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
474270014	Skeletal muscle structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
731896016	Skeletal muscle structure (body structure)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
731896016	Skeletal muscle structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
275041000077112	structure de muscle squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
275041000077112	structure de muscle squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module