129609000: Spinocerebellar ataxia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia

\Finding related to coordination / incoordination (finding)\Ataxia\...

\Hereditary ataxia (disorder)\Spinocerebellar ataxia

\Cerebellar ataxia\Spinocerebellar ataxia

\Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia

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

208422017 Spinocerebellar ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2147464014 Spinocerebellar ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1098331000005117 Spinocerebellar ataksi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spinocerebellar ataxia	Is a	Ataxia	false	Inferred relationship	Some
Spinocerebellar ataxia	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Spinocerebellar ataxia	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Spinocerebellar ataxia	Interprets	Nervous system function	false	Inferred relationship	Some
Spinocerebellar ataxia	Is a	Spinocerebellar disease	true	Inferred relationship	Some
Spinocerebellar ataxia	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Spinocerebellar ataxia	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Some
Spinocerebellar ataxia	Is a	Finding of lesion	false	Inferred relationship	Some
Spinocerebellar ataxia	Finding site	Spinal cord structure	true	Inferred relationship	Some	2
Spinocerebellar ataxia	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Spinocerebellar ataxia	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Spinocerebellar ataxia	Associated morphology	Degeneration	false	Inferred relationship	Some	2
Spinocerebellar ataxia	Is a	Degenerative brain disorder	false	Inferred relationship	Some
Spinocerebellar ataxia	Is a	Cerebellar degeneration	false	Inferred relationship	Some
Spinocerebellar ataxia	Is a	Hereditary cerebellar degeneration	true	Inferred relationship	Some
Spinocerebellar ataxia	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Spinocerebellar ataxia	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Spinocerebellar ataxia	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2
Spinocerebellar ataxia	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Azorean disease	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
Spinocerebellar ataxia type 36 (disorder)	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
A rare neurologic disease that is characterized by the early onset of cerebellar signs, eye movement abnormalities and pyramidal signs.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
Family history of spinocerebellar ataxia (situation)	Associated finding	True	Spinocerebellar ataxia	Inferred relationship	Some	1
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
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.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
Spinocerebellar ataxia due to vitamin E deficiency (disorder)	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
A rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
Amyotrophic lateral sclerosis with spinocerebellar ataxia (disorder)	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some
A rare hereditary ataxia with characteristics of adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.	Is a	True	Spinocerebellar ataxia	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
208422017	Spinocerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2147464014	Spinocerebellar ataxia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1098331000005117	Spinocerebellar ataksi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)