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

SNOMED CT Concept\Clinical finding (finding)\...

\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)

\Finding of head and neck region\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)
\Cerebellar disorder\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)

\Disorder of head (disorder)\Disorder of brain (disorder)\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
\Cerebellar disorder\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)

\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\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)\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

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

936511000172116 syndrome ADCA-DN (autosomal dominant cerebellar ataxia, deafness, narcolepsy) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian 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) Belgian module (core metadata concept)

900131000172112 ADCA-DN (autosomaal dominante cerebellaire ataxie, doofheid, narcolepsie)-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

1000181000172115 autosomaal dominante cerebellaire ataxie, doofheid, narcolepsiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	Hereditary cerebellar degeneration	true	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	Narcolepsy	true	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	2
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Interprets	Functional observable	false	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Associated morphology	Atrophic degeneration	false	Inferred relationship	Some	4
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some	4
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Associated morphology	Atrophic degeneration	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
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
936511000172116	syndrome ADCA-DN (autosomal dominant cerebellar ataxia, deafness, narcolepsy)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian 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)	Belgian module (core metadata concept)
900131000172112	ADCA-DN (autosomaal dominante cerebellaire ataxie, doofheid, narcolepsie)-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
1000181000172115	autosomaal dominante cerebellaire ataxie, doofheid, narcolepsiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)