| 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 genetic developmental and neurological disorder characterized by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia. |
| | Id | 253176002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 1065 |
| SNOMED CT to ICD-10 extended map | | Target | G11.0 | | Rule | TRUE | | Advice | ALWAYS G11.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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