722293005: syndroom van autosomaal dominante cerebellaire ataxie, doofheid en narcolepsie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Functional finding\Finding of sensory function\...
• \Disorder of sensory function (disorder)\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Finding related to sleep\Sleep disorder\...
• \Parasomnia\Narcolepsy\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Dyssomnia\Hypersomnia\Primary hypersomnia\Narcolepsy\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of sensory function (disorder)\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \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\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Sleep disorder\Parasomnia\Narcolepsy\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Sleep disorder\Dyssomnia\Hypersomnia\Primary hypersomnia\Narcolepsy\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3331475017	Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331476016	Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6827241000146119	ADCA-DN-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7806791000146110	syndroom van autosomaal dominante cerebellaire ataxie, doofheid en narcolepsie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7806801000146114	syndroom van autosomaal dominante cerebellaire ataxie, doofheid en narcolepsie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3331477013	A polymorphic disorder with characteristics of ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Disease onset occurs in adulthood from the ages of 30-40. Mild brain atrophy with cerebellum involvement is visible with magnetic resonance imaging. Caused by a mutation in the DNA methyltransferase (DNMT1) gene located on chromosome 19p13.2. It encodes an enzyme essential for the repression of transcriptional activity in numerous postmitotic cells.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Dutch mental health diagnoses simple reference set

GB English

US English

Back to Start