| Gemignani-syndroom (aandoening) | | Gemignani-syndroom | | syndroom van spinocerebellaire ataxie, amyotrofie en doofheid
syndroom van Gemignani
| | 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. |
| | Id | 782690007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G31.8 | | Term | Overige gespecificeerde degeneratieve ziekten van zenuwstelsel |
|
| SNOMED CT to Orphanet simple map | 2074 |
| SNOMED CT to ICD-10 extended map | | Target | G31.8 | | Rule | TRUE | | 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 |
|
|
