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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome est un(e) (attribut) Vestibulo-ocular reflex absent true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome est un(e) (attribut) atteinte d'un nerf périphérique true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome est un(e) (attribut) Chronic bilateral vestibulopathy (disorder) true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome est un(e) (attribut) Hereditary ataxia (disorder) true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome est un(e) (attribut) Chronic brain syndrome true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome est un(e) (attribut) Cerebellar ataxia true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome évolution clinique (attribut) progressif true Inferred relationship Some 2
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 3
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome localisation d'une constatation (attribut) Left labyrinth structure true Inferred relationship Some 4
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome localisation d'une constatation (attribut) Right labyrinth structure true Inferred relationship Some 5
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome localisation d'une constatation (attribut) nerf périphérique (structure corporelle) true Inferred relationship Some 6
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome interprète (attribut) Vestibulo-ocular reflex true Inferred relationship Some 1
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome a pour interprétation (attribut) Absent true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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