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33359002: Degeneration (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    55660014 Degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    55662018 Degenerative change en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    764753012 Degeneration (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    12461000077110 dégénérescence fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    dégénérescence Is a Degenerative abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Posterior vitreous degeneration of bilateral eyes (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Posterior vitreous degeneration of bilateral eyes (disorder) Associated morphology False dégénérescence Inferred relationship Some 3
    Salzmann's nodular degeneration of cornea of bilateral eyes (disorder) Associated morphology False dégénérescence Inferred relationship Some 3
    Salzmann's nodular degeneration of cornea of bilateral eyes (disorder) Associated morphology False dégénérescence Inferred relationship Some 4
    Salzmann's nodular degeneration of cornea of bilateral eyes (disorder) Associated morphology False dégénérescence Inferred relationship Some 5
    Salzmann nodular degeneration of cornea of left eye (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Salzmann nodular degeneration of cornea of left eye (disorder) Associated morphology False dégénérescence Inferred relationship Some 3
    Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. Associated morphology False dégénérescence Inferred relationship Some 2
    Myopic macular degeneration of bilateral eyes (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Myopic macular degeneration of bilateral eyes (disorder) Associated morphology False dégénérescence Inferred relationship Some 3
    Non-amnestic Alzheimer disease (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Adult retinoschisis (disorder) Associated morphology False dégénérescence Inferred relationship Some 3
    Adult retinoschisis (disorder) Associated morphology False dégénérescence Inferred relationship Some 4
    Primary progressive apraxia of speech (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. Associated morphology False dégénérescence Inferred relationship Some 1
    Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Associated morphology False dégénérescence Inferred relationship Some 5
    Degenerative rupture of triangular fibrocartilage of right wrist (disorder) Associated morphology False dégénérescence Inferred relationship Some 4
    Degenerative rupture of lateral meniscus of right knee (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Degenerative rupture of medial meniscus of left knee (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Degenerative rupture of lateral meniscus of left knee (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. Associated morphology False dégénérescence Inferred relationship Some 5
    Degenerative rupture of medial meniscus of right knee (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Degenerative rupture of triangular fibrocartilage of left wrist (disorder) Associated morphology False dégénérescence Inferred relationship Some 4
    Osteoarthritis of joint of right ankle Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of right sternoclavicular joint (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of right foot due to trauma (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Osteoarthritis of left ankle due to trauma (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Osteoarthritis of right ankle due to trauma (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. Associated morphology False dégénérescence Inferred relationship Some 3
    A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Associated morphology False dégénérescence Inferred relationship Some 3
    Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. Associated morphology False dégénérescence Inferred relationship Some 3
    Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. Associated morphology False dégénérescence Inferred relationship Some 3
    Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. Associated morphology False dégénérescence Inferred relationship Some 3
    Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. Associated morphology False dégénérescence Inferred relationship Some 3
    Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. Associated morphology False dégénérescence Inferred relationship Some 3
    Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. Associated morphology False dégénérescence Inferred relationship Some 3
    Osteoarthritis of first metatarsophalangeal joint of bilateral feet (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Osteoarthritis of first metatarsophalangeal joint of bilateral feet (disorder) Associated morphology False dégénérescence Inferred relationship Some 3
    Osteoarthritis of first metatarsophalangeal joint of right foot (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of first metatarsophalangeal joint of left foot (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of right patellofemoral joint (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of left patellofemoral joint (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of bilateral patellofemoral joints (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Osteoarthritis of bilateral patellofemoral joints (disorder) Associated morphology False dégénérescence Inferred relationship Some 3
    Retinohepatoendocrinologic syndrome (disorder) Associated morphology False dégénérescence Inferred relationship Some 3
    Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. Associated morphology False dégénérescence Inferred relationship Some 3
    Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. Associated morphology False dégénérescence Inferred relationship Some 4
    A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Associated morphology False dégénérescence Inferred relationship Some 5
    Osteoarthritis of right temporomandibular joint (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of left temporomandibular joint (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. Associated morphology False dégénérescence Inferred relationship Some 1
    Familial Scheuermann disease (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of left subtalar joint (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of right subtalar joint (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Intervertebral disc degeneration of cervical spine without prolapsed disc (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Chronic degeneration of tendon without inflammation. Associated morphology False dégénérescence Inferred relationship Some 2
    Autonomic nervous system disorder co-occurrent and due to neurodegenerative disorder (disorder) Associated morphology False dégénérescence Inferred relationship Some 3
    Epilepsy co-occurrent and due to degenerative brain disorder (disorder) Associated morphology False dégénérescence Inferred relationship Some 4
    Chorea co-occurrent and due to Wilson disease (disorder) Associated morphology False dégénérescence Inferred relationship Some 4
    Chorea co-occurrent and due to Wilson disease (disorder) Associated morphology False dégénérescence Inferred relationship Some 5
    Chorea co-occurrent and due to Wilson disease (disorder) Associated morphology False dégénérescence Inferred relationship Some 6
    X-linked hereditary spastic paraplegia (disorder) Associated morphology False dégénérescence Inferred relationship Some 4
    X-linked hereditary spastic paraplegia (disorder) Associated morphology False dégénérescence Inferred relationship Some 5
    X-linked hereditary spastic paraplegia (disorder) Associated morphology False dégénérescence Inferred relationship Some 6
    Late onset Alzheimer's dementia with behavioural disturbance Associated morphology False dégénérescence Inferred relationship Some 2
    Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. Associated morphology False dégénérescence Inferred relationship Some 3
    Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. Associated morphology False dégénérescence Inferred relationship Some 3
    Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. Associated morphology False dégénérescence Inferred relationship Some 3
    Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia, reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. Associated morphology False dégénérescence Inferred relationship Some 3
    Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. Associated morphology False dégénérescence Inferred relationship Some 3
    Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. Associated morphology False dégénérescence Inferred relationship Some 3
    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. Associated morphology False dégénérescence Inferred relationship Some 4
    Autosomal spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. Associated morphology False dégénérescence Inferred relationship Some 3
    Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disc herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. Associated morphology False dégénérescence Inferred relationship Some 3
    Pinguecula of right eye (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. Associated morphology False dégénérescence Inferred relationship Some 3
    A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Associated morphology False dégénérescence Inferred relationship Some 3
    A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. Associated morphology False dégénérescence Inferred relationship Some 3
    A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Associated morphology False dégénérescence Inferred relationship Some 7
    A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Associated morphology False dégénérescence Inferred relationship Some 6
    Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. Associated morphology False dégénérescence Inferred relationship Some 3
    Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. Associated morphology False dégénérescence Inferred relationship Some 5
    Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. Associated morphology False dégénérescence Inferred relationship Some 4
    Degeneration of iris Associated morphology False dégénérescence Inferred relationship Some 1
    An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. Associated morphology False dégénérescence Inferred relationship Some 6
    Corticobasal degeneration Associated morphology False dégénérescence Inferred relationship Some 2
    Corticobasal degeneration Associated morphology False dégénérescence Inferred relationship Some 3
    Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. Associated morphology False dégénérescence Inferred relationship Some 8
    Spondylosis Associated morphology False dégénérescence Inferred relationship Some 3
    Diffuse cervicobrachial syndrome Associated morphology False dégénérescence Inferred relationship Some 3
    Lumbosacral spondylosis without myelopathy Associated morphology False dégénérescence Inferred relationship Some 1
    Spinal arthritis deformans Associated morphology False dégénérescence Inferred relationship Some 3
    spondylose cervicale avec myélopathie Associated morphology False dégénérescence Inferred relationship Some 4
    Lumbar spondylosis with myelopathy Associated morphology False dégénérescence Inferred relationship Some 3
    Spondylosis without myelopathy Associated morphology False dégénérescence Inferred relationship Some 3
    Spondylosis with myelopathy Associated morphology False dégénérescence Inferred relationship Some 4
    Lumbosacral spondylosis Associated morphology False dégénérescence Inferred relationship Some 3
    Single-level cervical spondylosis without myelopathy Associated morphology False dégénérescence Inferred relationship Some 3
    Two-level cervical spondylosis without myelopathy Associated morphology False dégénérescence Inferred relationship Some 3
    Multiple-level cervical spondylosis without myelopathy Associated morphology False dégénérescence Inferred relationship Some 3

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