784380009: Autosomal dominant spastic ataxia type 1 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Autosomal dominant spastic ataxia type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal dominant spastic ataxia type 1
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant spastic ataxia type 1
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal dominant spastic ataxia type 1
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal dominant spastic ataxia type 1

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3763861010	Autosomal dominant spastic ataxia type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3763862015	Autosomal dominant spastic ataxia type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3763863013	SPAX1 - autosomal dominant spastic ataxia type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
3763864019	A rare genetic autosomal dominant spastic ataxia disorder with characteristics of lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances. Caused by heterozygous mutation in the VAMP1 gene on chromosome 12p13.	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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