SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/1237625002
http://purl.bioontology.org/ontology/SNOMEDCT/1237625002
Preferred Name

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Definitions
A rare autosomal recessive cerebellar ataxia characterised by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others. A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others. A rare autosomal recessive cerebellar ataxia with characteristics of early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor and pyramidal signs among others.
Synonyms
SCAR17 - spinocerebellar ataxia autosomal recessive type 17
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder)
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

A rare autosomal recessive cerebellar ataxia characterised by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.

A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.

A rare autosomal recessive cerebellar ataxia with characteristics of early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor and pyramidal signs among others.
prefLabel
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
altLabel
SCAR17 - spinocerebellar ataxia autosomal recessive type 17
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder)
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency
Has clinical course
Has interpretation
Type ID
900000000000003001
900000000000013009
Semantic type UMLS property
Has finding site
interprets
Effective time
20220930
cui
C4015301
Has pathological process
CTV3ID
XVJ2T
DEFINITION STATUS ID
900000000000074008
CASE SIGNIFICANCE ID
900000000000020002
900000000000017005
tui
T047
Active
1
Has associated morphology
notation
1237625002
type
subClassOf
Subset member
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPADVICE~ALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~G11.8
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS G11.8
900000000000497000~MAPTARGET~XVJ2T
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~G11.1
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