syndroom van spinocerebellaire ataxie, amyotrofie en doofheid
syndroom van Gemignani
Spinocerebellar ataxia, amyotrophy, deafness syndrome
A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.
|referentieset met complexe 'mapping' naar ICD-10|
|Advice||ALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION|
|Correlation||SNOMED CT source code to target map code correlation not specified|