| syndroom van coloboom van uvea, cheilopalatoschisis en verstandelijke beperking (aandoening) | | syndroom van coloboom van uvea, cheilopalatoschisis en verstandelijke beperking | | syndroom van coloboom van uvea, cheilopalatoschisis en verstandelijke handicap
syndroom van coloboom van uvea, gespleten gehemelte, gespleten lip en mentale retardatie
| | Uveal coloboma with cleft lip and palate and intellectual disability syndrome | | This syndrome is characterized by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and hematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. |
| | Id | 719042007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q13.0 | | Term | Coloboom van iris |
| Target | Q37.9 | | Term | Niet gespecificeerd gespleten gehemelte met enkelzijdig gespleten lip |
| Target | F79.9 | | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
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| SNOMED CT to Orphanet simple map | 1473 |
| SNOMED CT to ICD-10 extended map | | Target | Q13.0 | | Rule | TRUE | | Advice | ALWAYS Q13.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q37.9 | | Rule | TRUE | | Advice | ALWAYS Q37.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | F79.9 | | Rule | TRUE | | Advice | ALWAYS F79.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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