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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome
• \Disorder of head\Encephalopathy\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\Intellectual ability - finding\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\Intellectual ability - finding\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\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Ataxia with deafness and intellectual disability syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Ataxia with deafness and intellectual disability syndrome
• \Disease\Disorder of head\Encephalopathy\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, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321104018	Ataxia with deafness and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321105017	Ataxia with deafness and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321106016	Reardon Baraitser syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start