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
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
Injury of muscle(s) and tendon(s) of peroneal muscle group at lower leg level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Injury of muscle and tendon at ankle and foot level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Injury of muscle and tendon of long flexor muscle of toe at ankle and foot level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Injury of muscle and tendon of long extensor muscle of toe at ankle and foot level	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	4
Structure of extraocular muscle	Is a	True	Skeletal muscle structure	Inferred relationship	Some
Orbital myositis of left eye	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Orbital myositis of right eye	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Bilateral orbital myositis of eyes	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Rhabdomyolysis due to disease caused by severe acute respiratory syndrome coronavirus 2 (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Myopathy due to calcium deficiency (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Huntington's chorea	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	4
Juvenile onset Huntington's disease (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	6
Late onset Huntington's disease	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	6
Akinetic-rigid form of Huntington's disease	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	6
Hypotonic-hyporesponsive episode (finding)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Congenital muscular dystrophy type 1D large gene mutation (MDC1D) is an autosomal recessive congenital muscular dystrophy with intellectual disabilities and structural brain abnormalities. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. Clinical features include severe intellectual disability, hypotonia, developmental delay, contractures, and muscle degeneration.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Crush syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Neostigmine test	Procedure site - Indirect (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	1
Ice pack test	Procedure site - Indirect (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	1
Crush syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Paresis of left vocal cord (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Paresis of right vocal cord (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Paresis of bilateral vocal cords (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Nontraumatic intramuscular haematoma	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Fibrous dysplasia of bone with intramuscular myxoma	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Neonatal neuromuscular disorder	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Hypomyopathic juvenile dermatomyositis	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Juvenile dermatomyositis overlap syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Juvenile polymyositis due to paraneoplastic syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Polymyositis overlap syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Dermatomyositis overlap syndrome (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Sporadic inclusion body myositis (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Paroxysmal rhabdomyolysis (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	5
Myofascial pain syndrome of neck	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Autosomal recessive Emery-Dreifuss muscular dystrophy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
X-linked Emery-Dreifuss muscular dystrophy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Mycobacterial myositis	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Allan-Herndon-Dudley syndrome	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare mitochondrial oxidative phosphorylation disorder characterized by neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased, and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Myotonic dystrophy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
LIMS2-related limb girdle muscular dystrophy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
Glycogen storage disease due to lactate dehydrogenase deficiency	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Maternally inherited mitochondrial myopathy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Maternally inherited mitochondrial cardiomyopathy (disorder)	Finding site	False	Skeletal muscle structure	Inferred relationship	Some	3
Mitochondrial respiratory chain complex I structural subunit gene defect	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Mitochondrial respiratory chain complex I assembly gene defect	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy characterized by facial and skeletal muscle weakness and mild respiratory involvement.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterized by distal muscle weakness, and sometimes slowness of muscle contraction.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Actin accumulation myopathy (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A type of nemaline myopathy (NM) only observed in several families of the Amish community.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Intermediate nemaline myopathy	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Autosomal recessive central core disease	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Autosomal dominant central core disease (disorder)	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by SELENON (1p36.11) gene mutation.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare autosomal recessive congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by SELENON (1p36.11) gene mutation.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is ACTA1 (1q42.13).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is ACTA1 (1q42.13).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is ACTA1 (1q42.13).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is TPM3 (1q21.3).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare autosomal recessive congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is TPM3 (1q21.3).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is TPM3 (1q21.3).	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia, and intention tremor. Brain imaging may show white matter abnormalities.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Congenital myopathy with fibre-type disproportion associated with the MYH7 (myosin heavy chain 7) gene on the cytogenetic location 14q11.2 inherited in an autosomal dominant manner.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
Myasthenia gravis in remission	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	4
A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Intramuscular injection of human anti-D immunoglobulin	Procedure site - Indirect (attribute)	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	3
A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibres.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	1
A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibres.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2
Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.	Finding site	True	Skeletal muscle structure	Inferred relationship	Some	2

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Reference Sets

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

Anatomy structure and part 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
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