| X-gebonden syndroom van verstandelijke beperking, ataxie en apraxie (aandoening) | | X-gebonden syndroom van verstandelijke beperking, ataxie en apraxie | | X-gebonden syndroom van verstandelijke handicap, ataxie en apraxie
X-gebonden syndroom van mentale retardatie, ataxie en apraxie
| | X-linked intellectual disability with ataxia and apraxia syndrome | | A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992. |
| | Id | 718845002 | | 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 | 85338 |
| SNOMED CT to ICD-10 extended map | | Target | G31.8 | | Rule | TRUE | | Advice | ALWAYS G31.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
