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75047002: Disorder of skeletal muscle (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
502882014 Disease of skeletal muscle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
502883016 Disorder of skeletal muscle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
815613014 Disorder of skeletal muscle (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
274941000077112 affection d'un muscle squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1565 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of skeletal muscle Is a Disorder of musculoskeletal system (disorder) true Inferred relationship Some
Disorder of skeletal muscle Is a Disorder of muscle true Inferred relationship Some
Disorder of skeletal muscle Finding site Skeletal muscle structure true Inferred relationship Some 1
Disorder of skeletal muscle Is a Muscle finding false Inferred relationship Some
Disorder of skeletal muscle Is a Disorder of soft tissue true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A condition characterized by loss of skeletal muscle mass, primarily in the elderly but can be associated with other conditions that are not exclusively seen in older people. Is a True Disorder of skeletal muscle Inferred relationship Some
Cystinuria, type 1 Is a True Disorder of skeletal muscle Inferred relationship Some
Perineal hernia (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
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. Is a False Disorder of skeletal muscle Inferred relationship Some
Congenital spastic foot Is a True Disorder of skeletal muscle Inferred relationship Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), 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. Is a True Disorder of skeletal muscle Inferred relationship Some
Pelvic floor dysfunction (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of muscle of rotator cuff Is a True Disorder of skeletal muscle Inferred relationship Some
Denervation atrophy of muscle Is a False Disorder of skeletal muscle Inferred relationship Some
Muscle paresis due to and following neuromuscular blockade Is a True Disorder of skeletal muscle Inferred relationship Some
Muscle paralysis due to and following neuromuscular blockade (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
Amyloid myopathy Is a False Disorder of skeletal muscle Inferred relationship Some
Muscle and tendon injury Is a False Disorder of skeletal muscle Inferred relationship Some
Healed tear of anal sphincter Is a False Disorder of skeletal muscle Inferred relationship Some
Old laceration of muscles of pelvic floor (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Paresis of left vocal cord (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Paresis of right vocal cord (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Stenosis of velopharynx Is a False Disorder of skeletal muscle Inferred relationship Some
Injury of muscle of head (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of muscle of neck (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of intrinsic muscle of thumb (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of muscle of hip (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of muscle of trunk (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of quadriceps muscle Is a False Disorder of skeletal muscle Inferred relationship Some
Injury of muscle of lower leg Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of muscle of left thigh Is a False Disorder of skeletal muscle Inferred relationship Some
Injury of muscle of right thigh (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Injury of biceps brachii muscle (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of triceps brachii muscle (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of adductor muscle of thigh (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of muscle of left upper arm (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of muscle at shoulder level (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of intrinsic muscle of foot (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of muscle of right upper arm Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of muscle at upper arm level (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of intrinsic muscle of finger (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of intrinsic muscle of right hand (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of intrinsic muscle of left hand Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of extensor muscle at forearm level (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Left shoulder skeletal muscle injury Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of muscle at forearm level (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Right shoulder skeletal muscle injury Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of muscle and tendon at hip and thigh level Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of flexor muscle of thumb at forearm level (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of flexor muscle of finger at forearm level (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of multiple muscles and tendons at hip and thigh level Is a False Disorder of skeletal muscle Inferred relationship Some
Injury of muscle and tendon at forearm level Is a True Disorder of skeletal muscle Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a True Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
Glycogen storage disease due to lactate dehydrogenase deficiency Is a True Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
Lesion of skeletal muscle (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Tetraparesis Is a True Disorder of skeletal muscle Inferred relationship Some
Spastic diplegia Is a True Disorder of skeletal muscle Inferred relationship Some
Deposition in skeletal muscle Is a True Disorder of skeletal muscle Inferred relationship Some
Oedema of skeletal muscle Is a True Disorder of skeletal muscle Inferred relationship Some
Injury of muscle of thigh (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination. Is a True Disorder of skeletal muscle Inferred relationship Some
A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported. Is a True Disorder of skeletal muscle Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. Is a True Disorder of skeletal muscle Inferred relationship Some
Andersen Tawil syndrome (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy. Is a True Disorder of skeletal muscle Inferred relationship Some
Carcinomatous myopathic syndrome (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Autoimmune myopathy (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
A rare genetic neurological syndrome with characteristics of cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features. Is a True Disorder of skeletal muscle Inferred relationship Some
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Is a True Disorder of skeletal muscle Inferred relationship Some
Borderline acquired velopharyngeal dysfunction Is a True Disorder of skeletal muscle Inferred relationship Some
Foreign body in membranous urethra Is a True Disorder of skeletal muscle Inferred relationship Some
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. Is a True Disorder of skeletal muscle Inferred relationship Some

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