722293005: syndrome d'ataxie cérébelleuse autosomique dominante-surdité-narcolepsie (trouble)

• SNOMED CT Concept\constatation clinique\...
• \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)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \constatation à propos du système nerveux central\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)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \affection cérébelleuse\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\...
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \affection cérébelleuse\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \constatation générale à propos de l'observation du patient\constatation à propos du sommeil\trouble du sommeil\...
• \parasomnie\Narcolepsy\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \dyssomnie\Hypersomnia\Primary hypersomnia\Narcolepsy\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\trouble du sommeil\parasomnie\Narcolepsy\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
• \Disease\trouble du sommeil\dyssomnie\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
758541000241115	syndrome d'ataxie cérébelleuse autosomique dominante-surdité-narcolepsie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
974301000172116	syndrome d'ataxie cérébelleuse autosomique dominante-surdité-narcolepsie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation 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

Canada English language reference set (foundation metadata concept)

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