127954009: Skeletal muscle structure (body structure)

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

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\Structure of striated muscle and/or smooth muscle\...

\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 (body structure)\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	Some
Skeletal muscle structure	Is a	Skeletal and/or smooth muscle structure (body structure)	true	Inferred relationship	Some
Skeletal muscle structure	partie de	Entire skeletal muscle system	false	Additional relationship	Some
Skeletal muscle structure	Is a	Structure of soft tissue (body structure)	true	Inferred relationship	Some
Skeletal muscle structure	Is a	Skeletal muscle and/or tendon structure	true	Inferred relationship	Some
Skeletal muscle structure	Is a	Structure of striated muscle	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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	Some	2
A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Myopathy caused by local anesthetic	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare idiopathic inflammatory myopathy (IIM) with a heterogeneous phenotype characterized by myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Measurement of muscle tone	Procedure site - Direct (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	5
A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Administration of inactivated Japanese encephalitis virus adsorbed vaccine via intramuscular route	Procedure site - Indirect (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	1
Administration of typhoid VI capsular polysaccharide vaccine via intramuscular route	Procedure site - Indirect (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	1
Administration of rabies vaccine via intramuscular route	Procedure site - Indirect (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	6
Antenatal multi-minicore disease with arthrogryposis multiplex congenita	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Pain in multiple muscles	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Inflammation of multiple muscles	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Disorder of skeletal muscle due to systemic sclerosis (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Andersen Tawil syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare autosomal recessive limb-girdle muscular dystrophy characterized by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Steroid-induced myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Drug-induced myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Chloroquine myopathy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Alcohol myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Acute alcoholic myopathy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Chronic alcoholic myopathy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Nocturnal muscle cramp	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Myotonia caused by drug	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Intramuscular injection of human tetanus immunoglobulin	Procedure site - Indirect (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	1
Repair of muscle with graft of fascia (procedure)	Procedure site - Direct (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	2
Intramuscular infiltration of neurolytic substance	Procedure site - Indirect (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	2
Intramuscular lipoma	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A clinically heterogeneous progressive condition characterised by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	4
Calcinosis universalis	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	4
Delayed onset muscle pain (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Chronic orbital myositis	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic neurological syndrome with characteristics of cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	5
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	7
Disorder of skeletal muscle caused by statin (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Necrotizing myositis	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Injection of botulinum toxin into anal sphincter (procedure)	Procedure site - Indirect (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare genetic neurodegenerative disease with characteristics of childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Repair of muscle with graft of tendon (procedure)	Procedure site - Direct (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	2
A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years. Intermediate COL6-RD is caused by heterozygous or biallelic pathogenic variants (PVs) in the genes coding for the alpha chains of the extracellular matrix protein collagen VI (COL6A1, COL6A2, and COL6A3).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare centronuclear myopathy characterised by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Exercise induced muscle fatigue (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Fatigable weakness of muscle (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Episodic flaccidity of muscle (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Exercise induced myalgia (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Episodic hypotonia	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Generalized muscle weakness	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Generalized hypertrophy of skeletal muscle (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Myasthenia gravis caused by muscle-specific tyrosine kinase antibodies (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Increased fatigable weakness of muscle	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Late onset weakness of distal muscle (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Late onset weakness of proximal muscle (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	5
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	7
Progressive weakness of muscle	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Progressive weakness of distal muscle (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Progressive weakness of proximal muscle	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Severe hypotonia of muscle (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Severe hypertrophy of skeletal muscle (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Spastic ataxia (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Weakness of axial muscle	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Weakness of scapuloperoneal muscle	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Intermittent painful muscle spasm (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Atrophy of axial muscle	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Non-progressive atrophy of muscle (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Progressive atrophy of distal muscle	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by pontocerebellar hypoplasia, hypotonia and respiratory insufficiency. Cardiac anomalies (particularly hypertrophic cardiomyopathy), eye manifestations (congenital cataracts, corneal clouding), seizures and facial dysmorphism (including microcephaly, bitemporal narrowing, absence of eyelashes, short palpebral fissures, small and low-set ears, anteverted nares, microstomia, and micrognathia) are present in the majority of the patients. Additional findings such as hepatosplenomegaly, edema, micropenis/cryptorchidism, hypoglycemia, hypernatremia, increased triglycerides, elevated plasma lactate and decreased plasma cholesterol were reported. Brain imaging may reveal simplified/delayed cortical gyration, dilated ventricles, and periventricular or diffuse white matter abnormalities. It is mostly caused by biallelic deletions in the ATAD3 gene cluster (ATAD3A, ATAD3B and ATAD3C) or by point mutations in the ATAD3A gene. Even though the syndrome is mostly neonatally lethal, some patients, regardless of the type of the mutation/deletion they harbor, may have a less severe condition and may survive.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Straining of muscle (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis due to HOIP deficiency (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Mitochondrial complex I deficiency nuclear type 10 (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Adult-onset Steinert myotonic dystrophy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Childhood-onset Steinert myotonic dystrophy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Juvenile-onset Steinert myotonic dystrophy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Late-onset Steinert myotonic dystrophy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Decerebrate posture	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3

Start Previous Page 34 of 34

Reference Sets

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

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

Back to Start

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
275041000077112	structure de muscle squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7025701000241117	muscle squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7025711000241115	structure d'un muscle squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module