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
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
Intermediate nemaline myopathy	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
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.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterised by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
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.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
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.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
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.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Persistent congenital anteversion of femur (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare autoinflammatory syndrome with characteristics of the presence of features of relapsing polychondritis and Behcet disease in the same individual. This includes cartilage inflammation of the ears, nose, throat and rib cage as well as recurrent oral and genital ulcers respectively. Patients may also present ocular involvement (in particular anterior uveitis or scleritis), arthritis, fever, colitis, thrombophlebitis, and central nervous system vasculitis or in rare cases arterial aneurysms. Symptoms of polychondritis occur secondary to those of Behcet disease in the vast majority of cases.	Is a	False	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Langer mesomelic dysplasia syndrome	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare primary myoclonus characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses. Both familial and acquired forms are reported.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Osteoporosis due to chronic kidney disease (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
A clinically heterogeneous progressive condition characterised by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.	Is a	True	Chronic disease of musculoskeletal system	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	Chronic disease of musculoskeletal system	Inferred relationship	Some
A rare genetic neurodegenerative disease with characteristics of childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present.	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic traumatic diaphragmatic hernia (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic primary musculoskeletal pain	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic abscess of parametrium	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic parametritis and pelvic cellulitis	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic parametritis	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic tophaceous gout of vertebra caused by drug (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic tophaceous gout of vertebra due to renal impairment (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic gout of vertebra without tophus caused by drug	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic gout of vertebra without tophus due to renal impairment (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Progressive atrophy of distal muscle	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic musculoskeletal pain due to disorder of bone (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic musculoskeletal pain due to disorder of tendon (disorder)	Is a	True	Chronic disease of musculoskeletal system	Inferred relationship	Some
Chronic musculoskeletal pain due to disorder of joint	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