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

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

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3331476016	Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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