722293005: Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\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\Cerebellar disorder\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\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\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\Cerebellar disorder\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Finding of coordination\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\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\Cerebellar disorder\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\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\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\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\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\Disorder of auditory system\Auditory system hereditary disorder\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Finding related to sleep (finding)\Sleep disorder\...
• \Parasomnia\Narcolepsy\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Dyssomnia\Hypersomnia (disorder)\Primary hypersomnia\Narcolepsy\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\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 (disorder)\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 (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\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 (disorder)\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 (disorder)\Hearing loss\Sensorineural hearing loss\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of body system\Disease 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\Disease 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\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\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 (disorder)\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
5402884012	A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402885013	A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterised by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331475017	Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
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
5402884012	A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402885013	A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterised by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441241001000116	Autosomal-dominante zerebelläre Ataxie mit Schwerhörigkeit und Narkolepsie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
936511000172116	syndrome ADCA-DN (autosomal dominant cerebellar ataxia, deafness, narcolepsy)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
974301000172116	syndrome d'ataxie cérébelleuse autosomique dominante-surdité-narcolepsie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
936511000172116	syndrome ADCA-DN (autosomal dominant cerebellar ataxia, deafness, narcolepsy)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
974301000172116	syndrome d'ataxie cérébelleuse autosomique dominante-surdité-narcolepsie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3441241001000116	Autosomal-dominante zerebelläre Ataxie mit Schwerhörigkeit und Narkolepsie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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