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1236804009: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5089111010 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5089112015 Cerebellar ataxia with bilateral vestibulopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5089113013 CANVAS - cerebellar ataxia, neuropathy, vestibular areflexia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5089114019 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5089115018 CABV (cerebellar ataxia, bilateral vestibulopathy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5089116017 A rare slowly progressive autosomal recessive syndromic cerebellar ataxia with characteristics of 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
13716861000172114 syndroom van cerebellaire ataxie met neuropathie en bilaterale vestibulaire areflexie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
14259851000172119 CANVAS - cerebellar ataxia, neuropathy, vestibular areflexia syndrome nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a Vestibulo-ocular reflex absent true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a Peripheral nerve disease true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a Chronic bilateral vestibulopathy (disorder) true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a Hereditary ataxia (disorder) true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a Chronic brain syndrome true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a Cerebellar ataxia true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Finding site Cerebellar structure true Inferred relationship Some 3
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Finding site Left labyrinth structure true Inferred relationship Some 4
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Finding site Right labyrinth structure true Inferred relationship Some 5
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Finding site Peripheral nerve structure true Inferred relationship Some 6
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Interprets Vestibulo-ocular reflex true Inferred relationship Some 1
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Has interpretation Absent true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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