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
Toxic myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Myopathy due to snake bite	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Quail myopathy of Lesbos	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Alcohol myopathy	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	1
Primary fibromyalgia syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Structure of muscle acting on joint	Is a	True	Skeletal muscle structure	Inferred relationship	Some
A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare inclusion myopathy characterized by hypotonia and axial muscle weakness leading to spinal rigidity and development of scoliosis and other deformities which can result in respiratory failure. The symptoms are apparent from birth or early childhood. The muscle weakness is not progressive, and most patients remain ambulatory. Muscle biopsies show variable myopathic changes.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	5
Myalgia caused by statin	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuro-psychomotor development is usually normal.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Autosomal dominant limb girdle muscular dystrophy type 1B	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	1
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Juvenile dermatomyositis co-occurrent with respiratory involvement (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Myopathy co-occurrent and due to polymyositis	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
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	False	Skeletal muscle structure	Inferred relationship	Some	2
objektivt: muskelhypertrofi påvist	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	1
Skeletal muscle hypertrophy (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Pseudohypertrophy of muscle	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Hemihypertrophy of skeletal muscle (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Enlargement of skeletal muscle	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Transection of muscle of eye	Procedure site - Direct (attribute)	False	Skeletal muscle structure	Inferred relationship	Some	2
Myopathy of extraocular muscles	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Multiple transections of muscles of eye, two or more muscles	Procedure site - Direct (attribute)	False	Skeletal muscle structure	Inferred relationship	Some	2
Orbital myositis	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Ocular myasthenia	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Acute orbital myositis	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Superior oblique myokymia	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Chronic orbital myositis	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Ocular myasthenia with strabismus (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	4
Autosomal dominant limb girdle muscular dystrophy type 1B	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
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	False	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	False	Skeletal muscle structure	Inferred relationship	Some	3
Autosomal dominant limb girdle muscular dystrophy type 1C	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
Autosomal dominant limb girdle muscular dystrophy type 1C	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
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	False	Skeletal muscle structure	Inferred relationship	Some	2
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	False	Skeletal muscle structure	Inferred relationship	Some	3
A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
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	False	Skeletal muscle structure	Inferred relationship	Some	2
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	False	Skeletal muscle structure	Inferred relationship	Some	3
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	False	Skeletal muscle structure	Inferred relationship	Some	2
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	False	Skeletal muscle structure	Inferred relationship	Some	3
A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	4
A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	6
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	6
Autoimmune myopathy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Secondary rhabdomyolysis (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	6
Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	5
A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare, genetic vacuolar myopathy characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidemia, and mitochondrial myopathy.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	6
A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare congenital muscular dystrophy characterised by early onset of hypotonia, delayed motor development, and variably progressive generalised muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	2
A rare congenital muscular dystrophy characterised by early onset of hypotonia, delayed motor development, and variably progressive generalised muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Myopathy co-occurrent and due to hypercalcemia (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Distal myopathy 2	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	4
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
objektivt: smertebue	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	1
A form of limb-girdle muscular dystrophy characterized by slowly progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.	Finding site	True	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)