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Spinocerebellar ataxia dysmorphism syndrome (disorder)
Spinocerebellar ataxia dysmorphism syndrome
Syndrome that is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.
syndroom van spinocerebellaire ataxie en dysmorfie
Id733033001
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFoot structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.8
RuleTRUE
AdviceALWAYS G11.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified