763065008: Ataxia telangiectasia variant (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Ataxia telangiectasia variant
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Ataxia telangiectasia variant
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Ataxia telangiectasia variant
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Ataxia telangiectasia variant
• \Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Ataxia telangiectasia variant
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Ataxia telangiectasia variant
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Ataxia telangiectasia variant
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Ataxia telangiectasia variant

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3637748013	Ataxia telangiectasia variant	en	Synonym	Active	Case insensitive	SNOMED CT core
3637749017	Ataxia telangiectasia variant (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3637750017	v-AT - ataxia telangiectasia variant	en	Synonym	Active	Case sensitive	SNOMED CT core
3637751018	A rare genetic persistent combined dystonia with characteristics of clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present with extrapyramidal signs, such as resting tremor, choreoathetosis and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.	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

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