720517001: syndroom van ataxie, doofheid en verstandelijke beperking (aandoening)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Ataxia with deafness and intellectual disability syndrome (disorder)

\Finding related to coordination / incoordination (finding)\Ataxia\...

\Hereditary ataxia (disorder)\Ataxia with deafness and intellectual disability syndrome (disorder)

\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Ataxia with deafness and intellectual disability syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ataxia with deafness and intellectual disability syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ataxia with deafness and intellectual disability syndrome (disorder)

\Functional finding\Finding of sensory function\Disorder of sensory function (disorder)\Ataxia with deafness and intellectual disability syndrome (disorder)
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ataxia with deafness and intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Ataxia with deafness and intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Ataxia with deafness and intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Ataxia with deafness and intellectual disability syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Ataxia with deafness and intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Ataxia with deafness and intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ataxia with deafness and intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Ataxia with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Ataxia with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Ataxia with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Ataxia with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ataxia with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of sensory function (disorder)\Ataxia with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Ataxia with deafness and intellectual disability 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\Ataxia with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Ataxia with deafness and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Ataxia with deafness and intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Ataxia with deafness and intellectual disability syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	3
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ataxia with deafness and intellectual disability syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Ataxia with deafness and intellectual disability syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Ataxia with deafness and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Ataxia with deafness and intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Ataxia with deafness and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	Disorder of sensory function (disorder)	true	Inferred relationship	Some

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
3321104018	Ataxia with deafness and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321105017	Ataxia with deafness and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321106016	Reardon Baraitser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6737291000146111	syndroom van Reardon-Baraitser	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6906921000146119	syndroom van ataxie, doofheid en mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494941000146115	syndroom van ataxie, doofheid en verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7569761000146112	syndroom van ataxie, doofheid en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7569771000146118	syndroom van ataxie, doofheid en verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3321107013	This syndrome has characteristics of progressive ataxia beginning during childhood, deafness and intellectual deficit. It has been described in two families. The clinical picture is similar to that seen in Richards-Rundle syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core