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

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

\Finding of coordination\Ataxia\...

\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)

\Cerebellar ataxia\Spinocerebellar ataxia (disorder)

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

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

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
Spinocerebellar ataxia (disorder)	Is a	Ataxia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spinocerebellar ataxia (disorder)	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spinocerebellar ataxia (disorder)	Interprets	Nervous system function (observable entity)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder)	Is a	Spinocerebellar disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder)	Finding site	Cerebellar structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spinocerebellar ataxia (disorder)	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder)	Is a	Finding of lesion (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder)	Finding site	Spinal cord structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia (disorder)	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spinocerebellar ataxia (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spinocerebellar ataxia (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia (disorder)	Is a	Degenerative brain disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder)	Is a	Cerebellar degeneration	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder)	Is a	Hereditary cerebellar degeneration	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder)	Is a	Cerebellar ataxia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Azorean disease	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 36 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 7 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterised by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 6 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 8 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 10 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Richards-Rundle syndrome (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 28 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 29 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 26	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 25 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 23 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 11 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 12 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 13 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 14	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 17 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 18	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 19 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 27	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 32 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 35 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 37 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 5	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked sideroblastic anaemia with spinocerebellar ataxia	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked spinocerebellar ataxia type 3	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked spinocerebellar ataxia type 4	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Corneal cerebellar syndrome	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile onset spinocerebellar ataxia (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Family history of spinocerebellar ataxia (situation)	Associated finding	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spinocerebellar ataxia dysmorphism syndrome	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 40 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 38 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia due to STUB1 deficiency	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Adult-onset autosomal recessive cerebellar ataxia (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia due to vitamin E deficiency	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 41 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 42	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 43	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotrophic lateral sclerosis with spinocerebellar ataxia (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 46 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 45 (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	Is a	True	Spinocerebellar ataxia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

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
208422017	Spinocerebellar ataxia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
208422017	Spinocerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
733763017	Spinocerebellar ataxia (finding)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2147464014	Spinocerebellar ataxia (disorder)	en	Fully specified name	Active	Only initial character 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
124571000172118	ataxie spinocérébelleuse dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
124571000172118	ataxie spinocérébelleuse dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module