2748008: Spinal cord structure (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\Brain and spinal cord structure (body structure)\Spinal cord structure

\Body region structure\Structure of back of trunk and/or neck (body structure)\This volume includes the spinal column, its spaces and contents, notably the spinal canal, spinal meninges and spinal cord. It also includes the muscles associated with the spine within (and including) the anterior and posterior thoracolumbar fascia and its equivalent nuchal fascia in the neck. This region also includes the spinal ventral (anterior) and dorsal (posterior) roots, the dorsal root (spinal) ganglions and the spinal nerve trunks.\...

\Structure of vertebral column and/or spinal cord (body structure)\Spinal cord structure

\Spinal cord, roots and ganglia structure\Spinal cord structure

Status: current, Not 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
Spinal cord structure	Is a	Nervous structure of trunk	false	Inferred relationship	Some
Spinal cord structure	Is a	Spinal struktur	false	Inferred relationship	Some
Spinal cord structure	Is a	Spinal cord, roots and ganglia structure	true	Inferred relationship	Some
Spinal cord structure	Is a	Central nervous system part	false	Inferred relationship	Some
Spinal cord structure	del af	Entire trunk	false	Inferred relationship	Some
Spinal cord structure	del af	Entire spinal cord, roots and ganglia	false	Inferred relationship	Some
Spinal cord structure	del af	Entire central nervous system	false	Additional relationship	Some
Spinal cord structure	del af	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	del af	overfladeregion	false	Additional relationship	Some
Spinal cord structure	Is a	Struktur af ryggens vertebralområde	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 genetic complex hereditary spastic paraplegia disorder with characteristics of 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
A rare pure or complex hereditary spastic paraplegia with characteristics of 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
Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder with characteristics of 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 with characteristics of 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
Autosomal recessive spastic paraplegia type 71 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of 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
Autosomal spastic paraplegia type 72 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of 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 with characteristics of progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, and spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Caused by homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.	Finding site	True	Spinal cord structure	Inferred relationship	Some	2
A rare pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype. Typical characteristics include childhood-onset of minimally progressive bilateral mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy. Caused by heterozygous mutation in the ATL1 gene on chromosome 14q22.	Finding site	True	Spinal cord structure	Inferred relationship	Some	1
A rare complex hereditary spastic paraplegia with characteristics of 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 with characteristics of 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. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32.	Finding site	True	Spinal cord structure	Inferred relationship	Some	2
A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33.	Finding site	True	Spinal cord structure	Inferred relationship	Some	1
A rare form of hereditary spastic paraplegia with characteristics of 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. Caused by homozygous or compound heterozygous mutation in the CYP2U1 gene on chromosome 4q25.	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 with characteristics of adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (for example 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. Caused by homozygous or compound heterozygous mutation in the ANO10 gene on chromosome 3p22.	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 with characteristics of 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 pure or complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (such as mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated. Caused by heterozygous mutation in the WASHC5 gene on chromosome 8q24.	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 with characteristics of 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. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32.	Finding site	True	Spinal cord structure	Inferred relationship	Some	1
A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15.	Finding site	True	Spinal cord structure	Inferred relationship	Some	2
Acute disseminated encephalomyelitis	Finding site	True	Spinal cord structure	Inferred relationship	Some	5
Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder with characteristics of 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 with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were 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 with characteristics of 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 med 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 with characteristics of 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
Hydromyelocele	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 (disorder)	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 with characteristics of juvenile-onset 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 post mortem.	Finding site	True	Spinal cord structure	Inferred relationship	Some	2
A group of rare genetic neurodegenerative diseases with characteristics of 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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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
4150681000005115	struktur af rygmarven	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)