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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
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
3499953014 Syndrome with the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. So far, less than 10 cases have been reported in the literature. The hearing loss was generally diagnosed during childhood or early adulthood and the myoclonic jerks began during adolescence. Transmission appears to be autosomal dominant. 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
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) affection de l'oreille true Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome interprète (attribut) Movement (observable entity) true Inferred relationship Some 1
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) Sensorineural hearing loss false Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) Extrapyramidal disease true Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) Cerebellar ataxia true Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) Myoclonic disorder true Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 3
Myoclonus, cerebellar ataxia, deafness syndrome interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome survenue (attribut) congénital true Inferred relationship Some 4
Myoclonus, cerebellar ataxia, deafness syndrome localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 4
Myoclonus, cerebellar ataxia, deafness syndrome survenue (attribut) congénital true Inferred relationship Some 5
Myoclonus, cerebellar ataxia, deafness syndrome localisation d'une constatation (attribut) oreille true Inferred relationship Some 5
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) Hereditary ataxia (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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