720517001: Ataxia with deafness and intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding related to coordination / incoordination\Ataxia\...

\Hereditary ataxia\Ataxia with deafness and intellectual disability syndrome

\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome

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

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome

\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Ataxia with deafness and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Ataxia with deafness and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ataxia with deafness and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Ataxia with deafness and intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Ataxia with deafness and intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Ataxia with deafness and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Ataxia with deafness and intellectual disability syndrome
\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
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Ataxia with deafness and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Ataxia with deafness and intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ataxia with deafness and intellectual disability syndrome

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

Descriptions:

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 SNOMED CT core module

3321105017 Ataxia with deafness and intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3321106016 Reardon Baraitser syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ataxia with deafness and intellectual disability syndrome	Is a	Cerebellar ataxia	true	Inferred relationship	Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome	Is a	X-linked hereditary disease	true	Inferred relationship	Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	1
Ataxia with deafness and intellectual disability syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	3
Ataxia with deafness and intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Ataxia with deafness and intellectual disability syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	4
Ataxia with deafness and intellectual disability syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	3
Ataxia with deafness and intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Ataxia with deafness and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Ataxia with deafness and intellectual disability syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Ataxia with deafness and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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	SNOMED CT core module
3321105017	Ataxia with deafness and intellectual disability syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3321106016	Reardon Baraitser syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module