127954009: Skeletal muscle structure (body structure)

SNOMED CT Concept\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 (body 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	del af	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
A rare genetic lethal non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
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.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Juvenile dermatomyositis co-occurrent with respiratory involvement (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A very rare secondary neonatal autoimmune disease characterised by generalised weakness, severe hypotonia, absent or reduced deep tendon reflexes and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
A rare genetic glycogen storage disorder with characteristics of polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive usually dilated cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and auto-inflammation presenting with recurrent bacterial infections have also been reported. Caused by homozygous or compound heterozygous mutation in the RBCK1 gene on chromosome 20p13.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Dermatomyositis sine myositis (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
A rare genetic neuromuscular disease characterised by normokalaemic episodes of painful muscle cramping followed by progressive permanent flaccid weakness. Triggered by stress, cold and exercise and associated with myopathic myopathy and painful acute oedema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare genetic neuromuscular disease with characteristics of acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset chronic slowly progressive distal axonal neuropathy.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare skeletal muscle disease with characteristics of eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue in the absence of an identifiable causative factor (for example parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties with walking, motor clumsiness, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Cystinuria, type 1	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Hypotonia cystinuria syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation and minor facial dysmorphism).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Myofascial pain syndrome of lumbar spine (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Myofascial pain syndrome of thoracic spine (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Infective myositis of pelvis (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Infective myositis of thigh (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Infective myositis of neck	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Infective myositis of back (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Infective myositis of shoulder (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Infective myositis of upper arm (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	1
Tropical pyomyositis	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Infective myositis of lower leg (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Infective myositis of foot	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Infective myositis of hand	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Purulent myositis	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
A rare genetic skeletal muscle disease with characteristics of muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. There is the disease is caused by homozygous mutation in the CRYAB gene on chromosome 11q23.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. There is evidence the disease is caused by homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. Patients become wheelchair dependent.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and variably joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy. Caused by heterozygous mutation in the DNA2 gene on chromosome 10q.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare autosomal recessive distal myopathy with characteristics of early adult-onset slowly progressive often asymmetrical lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels. Age at onset ranges from 20 to 50 years. Clinical manifestations can be mild or subjectively nonexistent in spite of presenting clear changes on muscle imaging. Caused by loss of function mutations in the gene ANO5 (11p14.3) which encodes a protein highly expressed in skeletal and cardiac muscle, as well as bone.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare congenital muscular dystrophy due to dystroglycanopathy with characteristics of proximal muscular weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts and other structural brain anomalies.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder. The disease has characteristics of a wide phenotypic spectrum including hypotonia and muscular weakness, which is present at birth or early infancy and delayed or arrested motor development associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency and ocular anomalies (for example strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder with characteristics of a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Autosomal dominant limb girdle muscular dystrophy type 1C	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	1
A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder with characteristics of infantile to childhood-onset of slowly progressive, principally proximal shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures and muscle hypertrophy usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic disease with characteristics of adult-onset myofibrillar myopathy variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. Caused by heterozygous mutation in the alpha-B-crystallin gene (CRYAB) on chromosome 11q23.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of potentially life-threatening severe myopathy manifesting in the neonatal to early infantile period, followed by marked spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient marked decrease in respiratory chain activity.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare idiopathic inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare form of idiopathic inflammatory myopathy characterized by acute or subacute, severe, symmetrical, proximal muscle weakness usually associated with muscle-specific antibodies (anti-HMGCR or anti-SRP). Histopathological characteristics include myocyte necrosis and regeneration without significant inflammation, and C5b-9 deposition on non-necrotic myofibers.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
symptomgivende inflammatorisk myopati associeret med anden sygdom	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	1
Symptomatic inflammatory myopathy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	1
Idiopathic inflammatory myopathy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Hydatidosis myositis (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Contracture of muscle following injury	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Congenital muscular dystrophy type 1A	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Skeletal muscle tissue	Is a	True	Skeletal muscle structure	Inferred relationship	Some
Rhabdomyolysis due to statin (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic mitochondrial DNA-related mitochondrial myopathy disorder with characteristics of slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed. The phenotype is caused by mutation in the mitochondrially-encoded tRNA-glu gene (MTTE).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Familial infantile myasthenia	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Acetylcholine resynthesis deficiency	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Congenital myasthenic syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Congenital end-plate acetylcholine receptor deficiency	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare slowly progressive autosomal recessive distal myopathy with characteristics of early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods. The disease manifests initially in early childhood or young adulthood by foot drop but the first symptoms can be seen as early as one year of age. Caused by biallelic mutations (with at least one of them being missense mutation) in the gene NEB (2q22) which encodes the protein nebulin. The latter is expressed in the thin filaments of striated muscle and is required for the proper assembly of the thin filaments, for the maintenance of their lengths and for their contractile function. Transmission is autosomal recessive.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Amyotonia congenita	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Leigh syndrome with nephrotic syndrome	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Schwartz-Jampel syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Sclerodermatomyositis	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Idiopathic dermatomyositis	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Traumatic hypotonia (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Myomalacia	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A very rare secondary neonatal autoimmune disease characterised by generalised weakness, severe hypotonia, absent or reduced deep tendon reflexes and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Nutritional marasmus	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Muscle paresis due to and following neuromuscular blockade	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Muscle paralysis due to and following neuromuscular blockade (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Absence of power in skeletal muscle (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
objektivt: muskeltonus normal	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Normal tone in skeletal muscle	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare acquired skeletal muscle disease characterized by infiltration of the epimysium, perimysium, and perifascicular endomysium by macrophages with crystal inclusions composed of aluminum salts at the site of a previous vaccination (most commonly the deltoid muscle). Muscle necrosis is typically absent. Patients may present with myalgias, arthralgias, muscle weakness, chronic fatigue, asthenia, fever, and cognitive dysfunction. Signs and symptoms usually develop slowly over several months.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Chronic alcoholic myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Acute alcoholic myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Injury of muscle and tendon of abdomen, lower back and pelvis	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Muscle and tendon injury	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
objektivt: passiv ledbevægelse større end aktiv bevægelse	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	7
Injury of muscle and tendon at neck level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Injury of multiple muscles and tendons at shoulder and upper arm level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Injury of muscle and tendon of head	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Injury of muscle and tendon at thorax level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	5
Injury of muscle and tendon at forearm level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Injury of extensor or abductor muscles and tendons of thumb at forearm level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Injury of multiple muscles and tendons at forearm level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Injury of muscle and tendon at hip and thigh level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Injury of multiple muscles and tendons at hip and thigh level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Injury of muscle(s) and tendon(s) of anterior muscle group at lower leg level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4

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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
3258151000005119	Skeletmuskelstruktur	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)