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85102008: Cerebellar ataxia (disorder)

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
2966621018 Cerebellar ataxia (loss of muscle coordination) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
141095013 Cerebellar ataxia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
2966621018 Cerebellar ataxia (loss of muscle coordination) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2966621018 Cerebellar ataxia (loss of muscle coordination) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
272311000077119 ataxie cérébelleuse fr Synonym (core metadata concept) Active Entire term case insensitive (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

145 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cerebellar ataxia Is a Cerebellar disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebellar ataxia Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebellar ataxia Is a Degenerative disease of the central nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia Is a Lesion of brain (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebellar ataxia Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebellar ataxia Is a Degenerative brain disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia Is a Ataxia true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Early onset cerebellar ataxia (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Late onset cerebellar ataxia Is a False Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Drug-induced cerebellar ataxia Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
ataxie cérébelleuse due à toxine Is a False Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia due to alcoholism Is a False Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Acute cerebellar ataxia caused by varicella (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Nothnagel's syndrome Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Sanger-Brown cerebellar ataxia Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Marie's cerebellar ataxia Is a False Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Abortive cerebellar ataxia Is a False Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Dyssynergia cerebellaris myoclonica (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia in diseases EC (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Episodic ataxia Is a False Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
X-linked intellectual disability with ataxia and apraxia syndrome Is a False Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability characterised 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 Existential restriction modifier (core metadata concept)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Non-progressive cerebellar ataxia with intellectual disability (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive ataxia due to ubiquinone deficiency (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Olivopontocerebellar degeneration Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Dentatorubropallidoluysian degeneration Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Progressive spinocerebellar ataxia with retained tendon reflexes (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X associated tremor ataxia syndrome (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Episodic ataxia type 7 (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Episodic ataxia type 6 (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Episodic ataxia type 4 (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Episodic ataxia type 3 (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Episodic ataxia type 5 (EA5) is an extremely rare form of hereditary episodic ataxia characterised by recurrent episodes of vertigo and ataxia lasting several hours. Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia Beauce type (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Sporadic adult-onset ataxia of unknown aetiology Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia pancytopenia syndrome (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Ataxia with tapetoretinal degeneration syndrome Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Infantile-onset autosomal recessive non progressive cerebellar ataxia Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Gillespie syndrome Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Saldino-Mainzer dysplasia Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
X-linked progressive cerebellar ataxia (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant cerebellar ataxia type 2 Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual developmental disorder Christianson type (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia with oculomotor apraxia type 4 Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Friedreich ataxia (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia caused by chemical (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome (disorder) Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Dysequilibrium syndrome Is a True Cerebellar ataxia Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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