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733065003: Myoclonus, cerebellar ataxia, deafness syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5403703018 This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403704012 This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498660011 Myoclonus, cerebellar ataxia, deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498661010 Myoclonus, cerebellar ataxia, deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7618141000241110 syndrome de myoclonies, ataxie cérébelleuse et surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3414051001000119 Myoklonie-zerebelläre Ataxie-Taubheit-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Is a Sensorineural hearing loss false Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Is a Extrapyramidal disease true Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Is a Cerebellar ataxia true Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Is a Congenital hearing disorder false Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Is a Myoclonic disorder true Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Is a Hearing loss associated with syndrome true Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Is a Auditory system hereditary disorder true Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Is a Hereditary disorder of nervous system false Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Interprets Hearing true Inferred relationship Some 3
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Interprets entité observable fonctionnelle false Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Occurrence Congenital true Inferred relationship Some 4
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Finding site Cerebellar structure true Inferred relationship Some 4
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Occurrence Congenital true Inferred relationship Some 5
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Finding site Ear structure true Inferred relationship Some 5
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Is a Hereditary ataxia (disorder) true Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Is a Disorder of ear true Inferred relationship Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Interprets mouvement false Inferred relationship Some 1
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Interprets Movement observable true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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