128237006: Chronic disease of musculoskeletal system (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system

\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system
\Disease\Chronic disease\Chronic disease of musculoskeletal system

Status: current, 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
Chronic disease of musculoskeletal system	Is a	Disorder of musculoskeletal system (disorder)	true	Inferred relationship	Some
Chronic disease of musculoskeletal system	Is a	Chronic disease	true	Inferred relationship	Some
Chronic disease of musculoskeletal system	Course	Chronic	false	Inferred relationship	Some
Chronic disease of musculoskeletal system	Finding site	Structure of musculoskeletal system (body structure)	true	Inferred relationship	Some	2
Chronic disease of musculoskeletal system	Clinical course	Chronic	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteoradionecrosis of external auditory canal	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Neuroischaemic foot ulcer	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Fluorosis	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic orbital myositis	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic inflammation of postmastoidectomy cavity	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Adhesive middle ear disease with adhesions of drum head to stapes	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic petrositis	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Adhesive middle ear disease with adhesions of drum head to incus	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic arthropathy	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic osteomyelitis	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic atticoantral suppurative otitis media	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Malleus mobility reduced	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
SLE glomerulonephritis syndrome, WHO class V	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic nonsuppurative osteitis of jaw	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Hemolytic anemia with emphysema AND cutis laxa	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic periostitis of jaw	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Inflammatory pseudotumor of orbit	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic abscess of jaw (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic mastoiditis	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Mycetoma of foot (disorder)	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Ischaemic ulcer of foot due to diabetes mellitus	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic sphenoidal sinusitis	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Intermittent torticollis	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Recurrent labyrinthitis	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic bursitis	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic osteitis of jaw	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Eosinophilic polymyositis	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Fasciitis with eosinophilia syndrome	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Fibromyositis	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Eosinophilic panostitis	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic crepitant synovitis of hand and wrist	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Eosinophilic myositis (disorder)	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Fistula of mastoid	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Local recurrence of malignant neoplasm of bone	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Recurrent bone marrow hyperplasia	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Congenital hypoplastic anemia	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic osteomyelitis of sphenoid bone	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic atticoantral suppurative otitis media	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic perichondritis of pinna	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic osteomyelitis	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic rupture of Achilles tendon (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
A paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterised by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-oesophageal reflux but the pathophysiological mechanism is not clearly understood.	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood.	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
ostéomyélite chronique à cellules plasmatiques symétriques	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic degeneration of tendon without inflammation.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Recurrent cholesteatoma of mastoid cavity (disorder)	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Myofascial pain syndrome (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic musculoskeletal pain due to persistent inflammation (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic musculoskeletal pain due to disease of nervous system (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Primary fibromyalgia syndrome	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
maladie de Hand-Schüller-Christian	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.	Is a	True	Chronic disease of musculoskeletal system	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	Chronic disease of musculoskeletal system	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	Chronic disease of musculoskeletal system	Inferred relationship	Some
Elastotic nodules of antihelix (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.	Is a	True	Chronic disease of musculoskeletal system	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	Chronic disease of musculoskeletal system	Inferred relationship	Some
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Muscular dystrophy (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Osteopetrosis	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Osteosclerosis	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Mesomelic dysplasia	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Epiphyseal dysplasia	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Majeed syndrome is a rare genetic multisystemic disorder characterised by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Necrosis of ankle muscle co-occurrent and due to chronic ulcer of ankle (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Osteonecrosis of ankle bone due to chronic ulcer of ankle	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Avascular necrosis of fibula due to chronic ulcer of calf (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Necrosis of lower leg muscle co-occurrent and due to chronic ulcer of lower leg	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Necrosis of sacral muscle co-occurrent and due to chronic ulcer of sacrum (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Necrosis of muscle of buttock co-occurrent and due to chronic ulcer of buttock (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Progressive avascular necrosis of lunate	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic sarcoid myopathy	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Progressive external ophthalmoplegia	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Benign monomelic amyotrophy	Is a	True	Chronic disease of musculoskeletal system	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	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic alcoholic myopathy	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Huntington's chorea	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
pathologie rénale chronique associée à une ostéoporose	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Renal osteodystrophy with high bone turnover	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Renal osteodystrophy with normal bone turnover (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Renal osteodystrophy with low bone turnover (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Renal osteodystrophy	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Non-traumatic acute-on-chronic slipped upper femoral epiphysis	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Non-traumatic chronic slipped upper femoral epiphysis	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Persistent neonatal myasthenia gravis	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Paroxysmal rhabdomyolysis (disorder)	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Avascular necrosis of sacral bone due to chronic ulcer of sacrum (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
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.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
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.	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Adynamic bone disease	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
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.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
206490011	Chronic musculoskeletal disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
206491010	Chronic musculoskeletal disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
206492015	Chronic disease of the musculoskeletal system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
206493013	Chronic disease of musculoskeletal system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
732205015	Chronic disease of musculoskeletal system (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
109601000077112	maladie chronique de l'appareil locomoteur	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module