Autosomal recessive hereditary disorder
Hereditary corneal dystrophy
Spinocerebellar ataxia
|||
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
Corneal cerebellar syndrome
Spinocerebellar degeneration and corneal dystrophy syndrome
Der Kaloustian Jarudi Khoury syndrome
Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy.
syndroom van spinocerebellaire degeneratie en corneadystrofie
Id720750004
StatusPrimitive
Associated morphologyDystrophy
Finding siteCorneal structure
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified