| syndroom van aniridie, verstandelijke beperking en cerebellaire ataxie (aandoening) | | syndroom van aniridie, verstandelijke beperking en cerebellaire ataxie | | syndroom van afwezigheid van iris, mentale retardatie en cerebellaire ataxie
syndroom van Gillespie
syndroom van aniridie, verstandelijke handicap en cerebellaire ataxie
| | Gillespie syndrome | | Aniridia, cerebellar ataxia, intellectual disability syndrome
| | A rare congenital neurological disorder with characteristics of the association of partial bilateral aniridia with non-progressive cerebellar ataxia and intellectual disability. Aniridia is visible at birth as fixed dilated pupils. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia, gait and balance disorders with incoordination, intention tremor and scanning speech. Sporadic and familial cases have been observed. |
| | Id | 253176002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 1065 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.3 | | Rule | TRUE | | Advice | ALWAYS Q04.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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