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2748008: Spinal cord structure (body structure)


Status: current, Not 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
5644011 Spinal cord en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
483549018 Spinal cord structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
758052016 Spinal cord structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
921171000172113 medulla spinalis fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
926191000172117 moelle épinière fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
966921000172114 moelle spinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1017361000172114 structure de la moelle spinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


324 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinal cord structure Is a Nervous structure of trunk false Inferred relationship Some
Spinal cord structure Is a Spinal structure false Inferred relationship Some
Spinal cord structure Is a Spinal cord, roots and ganglia structure false Inferred relationship Some
Spinal cord structure Is a Central nervous system part false Inferred relationship Some
Spinal cord structure partie de Entire trunk false Inferred relationship Some
Spinal cord structure partie de Entire spinal cord, roots and ganglia false Inferred relationship Some
Spinal cord structure partie de Entire central nervous system false Additional relationship Some
Spinal cord structure partie de Spinal cord, roots and ganglia structure false Additional relationship Some
Spinal cord structure Is a Brain and spinal cord structure (body structure) true Inferred relationship Some
Spinal cord structure partie de Entire back (surface region) false Additional relationship Some
Spinal cord structure Is a Structure of vertebral region of back false Inferred relationship Some
Spinal cord structure Is a Structure of vertebral column and/or spinal cord (body structure) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
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. Finding site False Spinal cord structure 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. Finding site True Spinal cord structure Inferred relationship Some 1
Wind-up test Procedure site - Direct (attribute) True Spinal cord structure Inferred relationship Some 1
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. Finding site True Spinal cord structure Inferred relationship Some 1
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. Finding site True Spinal cord structure 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. Finding site True Spinal cord structure 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. Finding site True Spinal cord structure 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. Finding site True Spinal cord structure Inferred relationship Some 2
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. Finding site True Spinal cord structure 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. Finding site True Spinal cord structure 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. Finding site True Spinal cord structure 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. Finding site True Spinal cord structure 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. Finding site True Spinal cord structure Inferred relationship Some 1
Thoracic myelocele Finding site False Spinal cord structure Inferred relationship Some 1
Paraneoplastic encephalomyelitis (disorder) Finding site True Spinal cord structure Inferred relationship Some 2
Meningoencephalomyelitis Finding site True Spinal cord structure 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. Finding site True Spinal cord structure Inferred relationship Some 2
Postvaccinal encephalomyelitis Finding site False Spinal cord structure 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. Finding site True Spinal cord structure 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. Finding site True Spinal cord structure Inferred relationship Some 1
Diphtheria radiculomyelitis Finding site False Spinal cord structure Inferred relationship Some 3
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. Finding site True Spinal cord structure 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. Finding site True Spinal cord structure Inferred relationship Some 2
Acute disseminated encephalomyelitis Finding site True Spinal cord structure Inferred relationship Some 5
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. Finding site True Spinal cord structure 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. Finding site True Spinal cord structure Inferred relationship Some 1
Granulomatous meningoencephalomyelitis Finding site True Spinal cord structure Inferred relationship Some 3
Acute hemorrhagic leukoencephalitis Finding site True Spinal cord structure Inferred relationship Some 3
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. Finding site True Spinal cord structure Inferred relationship Some 2
Meningomyelitis Finding site True Spinal cord structure Inferred relationship Some 2
Bacterial meningomyelitis (disorder) Finding site True Spinal cord structure Inferred relationship Some 2
Hydromyelocele with hydrocephalus Finding site False Spinal cord structure Inferred relationship Some 3
Pyogranulomatous meningoencephalomyelitis Finding site True Spinal cord structure Inferred relationship Some 3
Acute disseminated encephalomyelitis following infectious disease (disorder) Finding site True Spinal cord structure 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. Finding site True Spinal cord structure Inferred relationship Some 1
Acquired myelocele Finding site True Spinal cord structure Inferred relationship Some 2
Diphtheria radiculomyelitis Finding site True Spinal cord structure Inferred relationship Some 1
Acute non-infective transverse myelitis Finding site True Spinal cord structure Inferred relationship Some 1
Acute disseminated encephalomyelitis following infectious disease (disorder) Finding site True Spinal cord structure Inferred relationship Some 1
Multiple sclerosis of the spinal cord Finding site True Spinal cord structure Inferred relationship Some 2
Neuromyelitis optica Finding site True Spinal cord structure Inferred relationship Some 4
Neuromyelitis optica Finding site True Spinal cord structure Inferred relationship Some 2
Encephalomyelitis caused by lymphocytic choriomeningitis virus (disorder) Finding site True Spinal cord structure Inferred relationship Some 1
hydromyélocèle Finding site False Spinal cord structure Inferred relationship Some 3
Spinocerebellar ataxia type 36 (disorder) Finding site True Spinal cord structure Inferred relationship Some 1
A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterised by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia and prominent sensory neuropathy. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. Finding site True Spinal cord structure Inferred relationship Some 1
A rare neurologic disease that is characterized by the early onset of cerebellar signs, eye movement abnormalities and pyramidal signs. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by sensory neuropathy and cerebellar ataxia. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by early onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. Finding site True Spinal cord structure Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. Finding site True Spinal cord structure Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males. Finding site True Spinal cord structure Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Finding site True Spinal cord structure Inferred relationship Some 3
An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis. Finding site True Spinal cord structure Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. Finding site True Spinal cord structure Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type III that is characterized by the early onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. Finding site True Spinal cord structure Inferred relationship Some 1
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. Finding site True Spinal cord structure Inferred relationship Some 2
X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. Finding site True Spinal cord structure Inferred relationship Some 1
A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Finding site True Spinal cord structure Inferred relationship Some 1
A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. Finding site True Spinal cord structure Inferred relationship Some 2
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. Finding site True Spinal cord structure Inferred relationship Some 2
X-linked hereditary spastic paraplegia (disorder) Finding site False Spinal cord structure Inferred relationship Some 2
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. Finding site False Spinal cord structure Inferred relationship Some 5
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. Finding site True Spinal cord structure Inferred relationship Some 2
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Finding site True Spinal cord structure Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia characterized by ataxia with sensory neuropathy. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. Finding site True Spinal cord structure Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Finding site True Spinal cord structure Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia, tremor and cognitive impairment. Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. Finding site True Spinal cord structure Inferred relationship Some 2
Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. Finding site True Spinal cord structure Inferred relationship Some 2
Myelitis co-occurrent with human immunodeficiency virus infection Finding site True Spinal cord structure Inferred relationship Some 1
Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. Finding site True Spinal cord structure Inferred relationship Some 2
Azorean disease, type I Finding site True Spinal cord structure Inferred relationship Some 1
Azorean disease, type II Finding site True Spinal cord structure Inferred relationship Some 1
Azorean disease, type III Finding site True Spinal cord structure Inferred relationship Some 1
Azorean disease, type IV Finding site True Spinal cord structure Inferred relationship Some 1
A rare neuronal ceroid lipofuscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon postmortem. Finding site True Spinal cord structure Inferred relationship Some 2
A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. Finding site True Spinal cord structure Inferred relationship Some 1
Metastatic malignant neoplasm to brain and spinal cord Finding site True Spinal cord structure Inferred relationship Some 2
Recurrent atlantoaxial subluxation with myelopathy Finding site True Spinal cord structure Inferred relationship Some 3
Open spinal subluxation with anterior cervical cord lesion Finding site False Spinal cord structure Inferred relationship Some 4
Open spinal dislocation with anterior lumbar cord lesion Finding site False Spinal cord structure Inferred relationship Some 4
Dermoid cyst of spinal cord (disorder) Finding site True Spinal cord structure Inferred relationship Some 1
Acute hemorrhagic leukoencephalitis Finding site True Spinal cord structure Inferred relationship Some 7
Abscess of spinal cord caused by fungus Finding site True Spinal cord structure Inferred relationship Some 1
Cyst of spinal cord caused by parasite Finding site True Spinal cord structure Inferred relationship Some 1

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

Anatomy structure and part association reference set (foundation metadata concept)

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