SNOMED CT

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/SNOMEDCT/715748006
http://purl.bioontology.org/ontology/SNOMEDCT/715748006
Preferred Name

Spinocerebellar ataxia type 1
Definitions
Main features described as dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. The disease typically presents in the fourth decade. Ataxia gradually progresses and additional features may emerge including proprioceptive loss, hypoactive reflexes, ophthalmoparesis, and mild optic neuropathy. Initial presentation with blepharospasm, oromandibular dystonia, and retrocollis preceding ataxia has been reported. Caused by CAG repeat expansions in the ATXN1 gene region on chromosome 6p23.
Synonyms
Spinocerebellar ataxia type 1 (disorder)
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

Main features described as dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. The disease typically presents in the fourth decade. Ataxia gradually progresses and additional features may emerge including proprioceptive loss, hypoactive reflexes, ophthalmoparesis, and mild optic neuropathy. Initial presentation with blepharospasm, oromandibular dystonia, and retrocollis preceding ataxia has been reported. Caused by CAG repeat expansions in the ATXN1 gene region on chromosome 6p23.
altLabel
Spinocerebellar ataxia type 1 (disorder)
prefLabel
Spinocerebellar ataxia type 1
Type ID
900000000000003001
900000000000013009
CASE SIGNIFICANCE ID
900000000000448009
notation
715748006
Effective time
20160731
Active
1
Has finding site
subClassOf
Semantic type UMLS property
type
Subset member
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPTARGET~G11.19
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS G11.19
6011000124106~MAPTARGET~G11.8
447562003~MAPTARGET~G11.8
900000000000508004~ACCEPTABILITYID~900000000000548007
900000000000497000~MAPTARGET~XUt8e
447562003~MAPPRIORITY~1
6011000124106~MAPTARGET~G11.1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS G11.8
447562003~MAPADVICE~ALWAYS G11.8
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS G11.1
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DEFINITION STATUS ID
900000000000074008
tui
T047
CTV3ID
XUt8e
cui
C0752120
Has associated morphology
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