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

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\...

\Myoclonic disorder\Myoclonus, cerebellar ataxia, deafness syndrome

\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome

\Finding related to coordination / incoordination\Ataxia\...

\Hereditary ataxia\Myoclonus, cerebellar ataxia, deafness syndrome

\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome

\Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
\Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
\Finding of head and neck region\Head finding\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
\Finding of head and neck region\Head finding\Disorder of head\Encephalopathy\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Myoclonus, cerebellar ataxia, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Myoclonus, cerebellar ataxia, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Myoclonus, cerebellar ataxia, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Myoclonus, cerebellar ataxia, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Myoclonus, cerebellar ataxia, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Myoclonus, cerebellar ataxia, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Myoclonus, cerebellar ataxia, deafness syndrome

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss\Myoclonus, cerebellar ataxia, deafness syndrome

\Hearing loss\Hearing loss associated with syndrome\Myoclonus, cerebellar ataxia, deafness syndrome
\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Myoclonus, cerebellar ataxia, deafness syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of body system\Neurological disorder\Myoclonic disorder\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Disorder of head\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Movement disorder\Myoclonic disorder\Myoclonus, cerebellar ataxia, deafness syndrome
\Disease\Movement disorder\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498660011 Myoclonus, cerebellar ataxia, deafness syndrome en Synonym Active Case insensitive SNOMED CT core

3498661010 Myoclonus, cerebellar ataxia, deafness syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Disorder of ear	true	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Interprets	Movement	true	Inferred relationship	Some	1
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Sensorineural hearing loss	false	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Extrapyramidal disease	true	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Myoclonic disorder	true	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
Myoclonus, cerebellar ataxia, deafness syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Myoclonus, cerebellar ataxia, deafness syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	4
Myoclonus, cerebellar ataxia, deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Myoclonus, cerebellar ataxia, deafness syndrome	Finding site	Ear structure	true	Inferred relationship	Some	5
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Hereditary ataxia	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498660011	Myoclonus, cerebellar ataxia, deafness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498661010	Myoclonus, cerebellar ataxia, deafness syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core