85102008: Cerebellar ataxia (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia

\Finding related to coordination / incoordination (finding)\Ataxia\Cerebellar ataxia

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar 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
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

141095013 Cerebellar ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

827086010 Cerebellar ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1868001000195117 atassia cerebellare it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

272311000077119 ataxie cérébelleuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebellar ataxia	Is a	Cerebellar disorder	true	Inferred relationship	Some
Cerebellar ataxia	Associated morphology	dégénérescence	false	Inferred relationship	Some	1
Cerebellar ataxia	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Cerebellar ataxia	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Some
Cerebellar ataxia	Is a	Lesion of brain	false	Inferred relationship	Some
Cerebellar ataxia	Associated morphology	dégénérescence	false	Inferred relationship	Some	1
Cerebellar ataxia	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Cerebellar ataxia	Is a	Degenerative brain disorder	false	Inferred relationship	Some
Cerebellar ataxia	Is a	Ataxia	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Early onset cerebellar ataxia	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Late onset cerebellar ataxia	Is a	False	Cerebellar ataxia	Inferred relationship	Some
Drug-induced cerebellar ataxia	Is a	True	Cerebellar ataxia	Inferred relationship	Some
ataxie cérébelleuse due à toxine	Is a	False	Cerebellar ataxia	Inferred relationship	Some
Cerebellar ataxia due to alcoholism	Is a	False	Cerebellar ataxia	Inferred relationship	Some
Acute cerebellar ataxia caused by varicella (disorder)	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Nothnagel's syndrome	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Sanger-Brown cerebellar ataxia	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Marie's cerebellar ataxia	Is a	False	Cerebellar ataxia	Inferred relationship	Some
Abortive cerebellar ataxia	Is a	False	Cerebellar ataxia	Inferred relationship	Some
Dyssynergia cerebellaris myoclonica	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Cerebellar ataxia associated with another disorder (disorder)	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Episodic ataxia (disorder)	Is a	False	Cerebellar ataxia	Inferred relationship	Some
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.	Is a	False	Cerebellar ataxia	Inferred relationship	Some
A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).	Is a	True	Cerebellar ataxia	Inferred relationship	Some
This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliosis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Olivopontocerebellar degeneration	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Dentatorubropallidoluysian degeneration	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Spinocerebellar ataxia	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Progressive spinocerebellar ataxia with retained tendon reflexes	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Episodic ataxia type 7 (EA7) is an exceedingly rare form of hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare form of hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare form of hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Episodic ataxia type 5 (EA5) is an extremely rare form of hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare, genetic, autosomal recessive spastic ataxia disease characterised by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leucoencephalopathy.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare genetic developmental and neurological disorder characterised by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Saldino-Mainzer dysplasia	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Autosomal dominant cerebellar ataxia type 2	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Christianson syndrome	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Friedreich ataxia	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Cerebellar ataxia caused by chemical	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A rare genetic neurological syndrome with characteristics of cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.	Is a	True	Cerebellar ataxia	Inferred relationship	Some
A subtype of non-spastic cerebral palsy with loss of muscular coordination with abnormal force and rhythm, and impairment of accuracy; commonly presents with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus and other abnormal eye movements, and hypotonia. Low tone is a prominent feature.	Is a	True	Cerebellar ataxia	Inferred relationship	Some

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
141095013	Cerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
827086010	Cerebellar ataxia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1868001000195117	atassia cerebellare	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
272311000077119	ataxie cérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module