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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
    Bilateral shoulder osteoarthritis Associated morphology False dégénérescence Inferred relationship Some 2
    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. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Associated morphology False dégénérescence Inferred relationship Some 2
    A rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions. Associated morphology False dégénérescence Inferred relationship Some 1
    Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare neuroinflammatory disease characterized by the onset of ataxia, dysarthria and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertriglyceridemia, hypofibrinogenemia and hyperferritinemia. Associated morphology False dégénérescence Inferred relationship Some 1
    Spondylosis of cervicothoracic spine Associated morphology False dégénérescence Inferred relationship Some 1
    Spondylosis of cervicothoracic spine Associated morphology False dégénérescence Inferred relationship Some 2
    Spondylosis of thoracolumbar spine (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    A rare complex hereditary spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. Associated morphology False dégénérescence Inferred relationship Some 2
    Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare genetic dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy). Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of bilateral knee joints (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of bilateral knee joints (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Osteoarthritis of finger joint of right hand (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of joint of bilateral feet (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of joint of bilateral feet (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Osteoarthritis of joint of bilateral hands (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of joint of bilateral hands (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Osteoarthritis of finger joint of left hand (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of bilateral hip joints Associated morphology False dégénérescence Inferred relationship Some 2
    Osteoarthritis of bilateral hip joints Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of joint of finger of bilateral hands (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of joint of finger of bilateral hands (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Osteoarthritis of joint of bilateral ankles (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Osteoarthritis of joint of bilateral ankles (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Tendinosis of bilateral biceps brachii (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Tendinosis of bilateral biceps brachii (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Tendinosis of right knee (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Tendinosis of bilateral knees (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Tendinosis of bilateral knees (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Tendinosis of left knee (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Juvenile osteochondrosis of thoracic spine (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Juvenile osteochondrosis of thoracic spine (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Seropositive erosive rheumatoid arthritis (disorder) Associated morphology False dégénérescence Inferred relationship Some 3
    Degenerative disorder of muscle Associated morphology False dégénérescence Inferred relationship Some 2
    A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. Associated morphology False dégénérescence Inferred relationship Some 1
    An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated. Associated morphology False dégénérescence Inferred relationship Some 1
    An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated. Associated morphology False dégénérescence Inferred relationship Some 2
    Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability. Associated morphology False dégénérescence Inferred relationship Some 1
    A type of autosomal recessive pure hereditary spastic paraplegia characterized by infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems. Associated morphology False dégénérescence Inferred relationship Some 1
    Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Associated morphology False dégénérescence Inferred relationship Some 2
    A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. Associated morphology False dégénérescence Inferred relationship Some 2
    Circumferential viscodilation and tensioning of sinus venosus of sclera by external approach Procedure morphology (attribute) False dégénérescence Inferred relationship Some 1
    Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. Associated morphology False dégénérescence Inferred relationship Some 2
    Leigh-Syndrom mit nephrotischem Syndrom Associated morphology False dégénérescence Inferred relationship Some 1
    Infectious crystalline keratopathy Associated morphology False dégénérescence Inferred relationship Some 2
    A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated. Associated morphology False dégénérescence Inferred relationship Some 1
    Age-related changes in ciliary body Associated morphology False dégénérescence Inferred relationship Some 2
    A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. Associated morphology False dégénérescence Inferred relationship Some 2
    A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Associated morphology False dégénérescence Inferred relationship Some 2
    A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Associated morphology False dégénérescence Inferred relationship Some 1
    Thoracic spondylosis (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Thoracic spondylosis with radiculopathy Associated morphology False dégénérescence Inferred relationship Some 2
    Single-level thoracic spondylosis with radiculopathy Associated morphology False dégénérescence Inferred relationship Some 2
    Two-level thoracic spondylosis with radiculopathy Associated morphology False dégénérescence Inferred relationship Some 2
    Multiple-level thoracic spondylosis with radiculopathy Associated morphology False dégénérescence Inferred relationship Some 2
    A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia. Associated morphology False dégénérescence Inferred relationship Some 1
    Paving stone retinal degeneration of right eye (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Bilateral paving stone retinal degeneration Associated morphology False dégénérescence Inferred relationship Some 1
    Bilateral paving stone retinal degeneration Associated morphology False dégénérescence Inferred relationship Some 2
    Paving stone retinal degeneration of left eye (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Synucleinopathy Associated morphology False dégénérescence Inferred relationship Some 1
    Pigmentary iris degeneration of bilateral eyes Associated morphology False dégénérescence Inferred relationship Some 1
    Pigmentary iris degeneration of bilateral eyes Associated morphology False dégénérescence Inferred relationship Some 2
    Bilateral arcus senilis Associated morphology False dégénérescence Inferred relationship Some 1
    Dellen of cornea of right eye Associated morphology False dégénérescence Inferred relationship Some 1
    Dellen of cornea of left eye (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Osteoarthritis of bilateral sternoclavicular joints (disorder) Associated morphology False dégénérescence Inferred relationship Some 2
    Osteoarthritis of bilateral sternoclavicular joints (disorder) Associated morphology False dégénérescence Inferred relationship Some 1
    Bilateral osteoarthritis of temporomandibular joints Associated morphology False dégénérescence Inferred relationship Some 2
    Bilateral osteoarthritis of temporomandibular joints Associated morphology False dégénérescence Inferred relationship Some 1
    A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. Associated morphology False dégénérescence Inferred relationship Some 1
    A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963. Associated morphology False dégénérescence Inferred relationship Some 2
    A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Associated morphology False dégénérescence Inferred relationship Some 1
    Single-level thoracic spondylosis with myelopathy Associated morphology False dégénérescence Inferred relationship Some 3
    A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging. Associated morphology False dégénérescence Inferred relationship Some 1
    A complex hereditary spastic paraplegia characterised by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, pes cavus, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported. Associated morphology False dégénérescence Inferred relationship Some 1
    Two-level thoracic spondylosis with myelopathy (disorder) Associated morphology False dégénérescence Inferred relationship Some 3
    Multiple-level thoracic spondylosis with myelopathy Associated morphology False dégénérescence Inferred relationship Some 3
    Vitreoretinal tuft of right eye Associated morphology False dégénérescence Inferred relationship Some 2
    Vitreoretinal tuft of left eye Associated morphology False dégénérescence Inferred relationship Some 2
    Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies. Associated morphology False dégénérescence Inferred relationship Some 3
    A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. Associated morphology False dégénérescence Inferred relationship Some 1
    Bilateral arcus senilis Associated morphology False dégénérescence Inferred relationship Some 2

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