702423009: Deafness-dystonia-optic neuronopathy syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\Deafness-dystonia-optic neuronopathy syndrome (disorder)

\Finding of movement\Movement disorder\Deafness-dystonia-optic neuronopathy syndrome (disorder)

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Ear and auditory finding\Hearing finding\Hearing disorder\Deafness-dystonia-optic neuronopathy syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Functional finding\Hearing finding\Hearing disorder\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Deafness-dystonia-optic neuronopathy syndrome (disorder)

\Disease\Genetic disease\Genetic intellectual disability\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Disease\Movement disorder\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Genetic intellectual disability\Deafness-dystonia-optic neuronopathy syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Deafness-dystonia-optic neuronopathy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	Movement disorder	true	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	Hearing disorder	true	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	2
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Interprets	Hearing	false	Inferred relationship	Some	3
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Interprets	entité observable fonctionnelle	false	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Interprets	mouvement	false	Inferred relationship	Some	4
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	Intellectual disability	false	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	1
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	1
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	Genetic intellectual disability	true	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2994976018	Deafness-dystonia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995040013	Mohr-Tranebjaerg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995219016	Deafness-dystonia-optic neuronopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995291017	Deafness-dystonia-optic neuronopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5448941000241115	syndrome surdité-dystonie-neuronopathie optique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410101001000111	Mohr-Tranebjaerg-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module