733065003: syndroom van myoklonie, cerebellaire ataxie en doofheid (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
• \Finding of movement (finding)\Movement disorder\...
• \Myoclonic disorder\Myoclonus, cerebellar ataxia, deafness syndrome
• \Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Myoclonus, cerebellar ataxia, deafness syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Functional finding\Finding of sensory function\...
• \Disorder of sensory function (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Hearing finding (finding)\Hearing disorder\...
• \Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\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 (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Myoclonus, cerebellar ataxia, deafness syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\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 hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\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 (disorder)\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\Disorder of nervous system (disorder)\Disorder of sensory function (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Myoclonus, cerebellar ataxia, deafness syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Myoclonic disorder\Myoclonus, cerebellar ataxia, deafness syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\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 (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Myoclonus, cerebellar ataxia, deafness syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Myoclonus, cerebellar ataxia, deafness syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\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, 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
6701411000146115	syndroom van myoklonie, cerebellaire ataxie en doofheid (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6701421000146113	syndroom van myoclonus, cerebellaire ataxie en gehoorverlies	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6701431000146110	syndroom van myoklonie, cerebellaire ataxie en doofheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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