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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
Myogenic ptosis Due to False Disorder of skeletal muscle Inferred relationship Some 2
Full thickness burn involving muscle Is a False Disorder of skeletal muscle Inferred relationship Some
Traumatic division of muscle Is a False Disorder of skeletal muscle Inferred relationship Some
Intramuscular contusion Is a False Disorder of skeletal muscle Inferred relationship Some
Crushing injury of muscle Is a False Disorder of skeletal muscle Inferred relationship Some
Drug-induced myopathy Is a False Disorder of skeletal muscle Inferred relationship Some
Recruitment Is a False Disorder of skeletal muscle Inferred relationship Some
Reflex blepharospasm (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Cricopharyngeal disorder Is a True Disorder of skeletal muscle Inferred relationship Some
Incomplete closure of velopharyngeal apparatus due to anatomical abnormality (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Failure of velopharyngeal valve to seal completely due to structural or neurologic abnormality or velopharyngeal mislearning. Is a False Disorder of skeletal muscle Inferred relationship Some
Velopharyngeal mislearning Is a False Disorder of skeletal muscle Inferred relationship Some
Pharyngeal spasm Is a False Disorder of skeletal muscle Inferred relationship Some
Palatopharyngeal incoordination Is a True Disorder of skeletal muscle Inferred relationship Some
Myoclonus of stapedius muscle (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Velopharyngeal incompetence Is a False Disorder of skeletal muscle Inferred relationship Some
Traumatic injury of skeletal muscle (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Myoclonus of tensor tympani muscle (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Quadratus lumborum syndrome Is a True Disorder of skeletal muscle Inferred relationship Some
Ischiorectal hernia with obstruction (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Neoplasm of muscle of trunk Is a False Disorder of skeletal muscle Inferred relationship Some
Cloquet's hernia Is a False Disorder of skeletal muscle Inferred relationship Some
Ischiorectal hernia with gangrene Is a False Disorder of skeletal muscle Inferred relationship Some
Complete rectal prolapse with displacement of anal sphincter Is a False Disorder of skeletal muscle Inferred relationship Some
Intermuscular hernia Is a False Disorder of skeletal muscle Inferred relationship Some
Anterior perineal hernia (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Posterior perineal hernia (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Disorder of diaphragm (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Myasthenia gravis Is a False Disorder of skeletal muscle Inferred relationship Some
Slow channel syndrome Is a False Disorder of skeletal muscle Inferred relationship Some
Myopathy in myasthenia gravis Is a False Disorder of skeletal muscle Inferred relationship Some
Amyotonia congenita Is a False Disorder of skeletal muscle Inferred relationship Some
Toxic neuromuscular junction disorder (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Eaton-Lambert syndrome Is a False Disorder of skeletal muscle Inferred relationship Some
Infectious disorder of muscle Is a True Disorder of skeletal muscle Inferred relationship Some
Hereditary myositis ossificans Is a False Disorder of skeletal muscle Inferred relationship Some
Laryngeal dystonia Is a True Disorder of skeletal muscle Inferred relationship Some
Weakness of extremities as sequela of stroke Is a True Disorder of skeletal muscle Inferred relationship Some
Spasticity as sequela of stroke (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Myosin storage myopathy (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Myofibrillar myopathy Is a True Disorder of skeletal muscle Inferred relationship Some
Fibrosis of external urethral sphincter (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Denervation of external urethral sphincter Is a True Disorder of skeletal muscle Inferred relationship Some
Hypertrophy of masseter muscle Is a True Disorder of skeletal muscle Inferred relationship Some
Neoplasm of skeletal muscle (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Muscle abscess of thigh (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Muscle abscess of pelvis (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Muscle abscess of forearm (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Muscle abscess of foot (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Muscle abscess of hand Is a False Disorder of skeletal muscle Inferred relationship Some
Muscle abscess of shoulder Is a False Disorder of skeletal muscle Inferred relationship Some
Disorder of tibialis anterior tendon Is a False Disorder of skeletal muscle Inferred relationship Some
Disorder of flexor hallucis longus tendon Is a False Disorder of skeletal muscle Inferred relationship Some
A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. Is a False Disorder of skeletal muscle Inferred relationship Some
Benign congenital myopathy (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Benign congenital hypotonia Is a True Disorder of skeletal muscle Inferred relationship Some
Brody myopathy Is a True Disorder of skeletal muscle Inferred relationship Some
Cap myopathy Is a True Disorder of skeletal muscle Inferred relationship Some
A reactive fibrous lesion of adductor magnus and aponeurotic origin of the medial head of gastrocnemius of the distal femur. Is a False Disorder of skeletal muscle Inferred relationship Some
Acquired hypotonia Is a True Disorder of skeletal muscle Inferred relationship Some
Congenital laryngeal adductor palsy (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Congenital laryngeal abductor palsy Is a True Disorder of skeletal muscle Inferred relationship Some
Progressive myositis ossificans Is a False Disorder of skeletal muscle Inferred relationship Some
Necrosis of ankle muscle co-occurrent and due to chronic ulcer of ankle (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Necrosis of calf muscle co-occurrent and due to chronic ulcer of calf (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Myositis ossificans of upper arm due to burn Is a False Disorder of skeletal muscle Inferred relationship Some
Calcification and ossification of muscle of thigh due to burn (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Calcification and ossification of muscle of ankle due to burn (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Myositis ossificans of lower leg due to burn Is a False Disorder of skeletal muscle Inferred relationship Some
Calcification and ossification of muscle of foot due to burn (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Calcification and ossification of muscle of shoulder due to burn (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Myositis ossificans of hand due to burn Is a False Disorder of skeletal muscle Inferred relationship Some
Calcification and ossification of muscle of forearm due to burn (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Caveolin 3 related distal myopathy (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Epidemic pleurodynia Is a False Disorder of skeletal muscle Inferred relationship Some
Necrosis of lower leg muscle co-occurrent and due to chronic ulcer of lower leg Is a False Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
Necrosis of muscle of buttock co-occurrent and due to chronic ulcer of buttock (disorder) Is a False Disorder of skeletal muscle Inferred relationship Some
Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism. Is a True Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
A rare, genetic vacuolar myopathy characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. Is a True Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
Hernia of muscle through fascia of lower leg (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
Myofascial pain syndrome (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Weakness of right facial muscle due to and following cerebrovascular disease (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Weakness of left facial muscle due to and following cerebrovascular disease (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Stimulation of muscle pocket as complication of implantation of automatic cardiac defibrillator Is a True Disorder of skeletal muscle Inferred relationship Some
Stimulation of muscle pocket due to and after implantation of cardiac pacemaker (disorder) Is a True Disorder of skeletal muscle Inferred relationship Some
Weakness of face muscles as sequela of stroke Is a True Disorder of skeletal muscle Inferred relationship Some
Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. Is a True Disorder of skeletal muscle Inferred relationship Some
Inherited spastic paresis Is a False Disorder of skeletal muscle Inferred relationship Some
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. Is a True Disorder of skeletal muscle Inferred relationship Some
A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. Is a True Disorder of skeletal muscle Inferred relationship Some
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. Is a True Disorder of skeletal muscle Inferred relationship Some
A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. Is a True Disorder of skeletal muscle Inferred relationship Some
Myogenic ptosis of right eye (disorder) Due to False Disorder of skeletal muscle Inferred relationship Some 2
Myogenic ptosis of left eye (disorder) Due to False Disorder of skeletal muscle Inferred relationship Some 2
Myogenic ptosis of bilateral eyes (disorder) Due to False Disorder of skeletal muscle Inferred relationship Some 3
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

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