Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Cerebellar ataxia
Chronic brain syndrome
Chronic disease of ear
Disorder of sensory function
Hearing loss associated with syndrome
Hereditary ataxia
Hereditary degenerative disease of central nervous system
Sensorineural hearing loss
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Gemignani syndrome (disorder)
Gemignani syndrome
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.
Gemignani-syndroom
syndroom van spinocerebellaire ataxie, amyotrofie en doofheid
syndroom van Gemignani
Id782690007
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteStructure of central nervous system
Finding siteEar structure
Finding siteCerebellar structure
InterpretsHearing
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified