723441001: Non-progressive cerebellar ataxia with intellectual disability (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Non-progressive cerebellar ataxia with intellectual disability
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Non-progressive cerebellar ataxia with intellectual disability
• \Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability
• \Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Non-progressive cerebellar ataxia with intellectual disability
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Non-progressive cerebellar ataxia with intellectual disability
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Non-progressive cerebellar ataxia with intellectual disability
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Non-progressive cerebellar ataxia with intellectual disability
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Non-progressive cerebellar ataxia with intellectual disability
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Non-progressive cerebellar ataxia with intellectual disability
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Non-progressive cerebellar ataxia with intellectual disability
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Non-progressive cerebellar ataxia with intellectual disability
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Non-progressive cerebellar ataxia with intellectual disability
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Non-progressive cerebellar ataxia with intellectual disability
• \Disease\Developmental disorder\Developmental hereditary disorder\Non-progressive cerebellar ataxia with intellectual disability

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424625017	Non-progressive cerebellar ataxia with intellectual disability (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424626016	Non-progressive cerebellar ataxia with intellectual disability	en	Synonym	Active	Case insensitive	SNOMED CT core
3424627013	Disease with characteristics of the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and in later life intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). Caused by heterozygous disruption of the CAMTA1 gene on chromosome 1p36.	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

Description inactivation indicator reference set

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