| syndroom van congenitaal cataract, ataxie en doofheid (aandoening) | | syndroom van congenitaal cataract, ataxie en doofheid | | Congenital cataract with ataxia and deafness syndrome | | This syndrome has characteristics of mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. |
| | Id | 719102004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q12.0 | | Term | Congenitaal cataract |
| Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 1368 |
| SNOMED CT to ICD-10 extended map | | Target | Q12.0 | | Rule | TRUE | | Advice | ALWAYS Q12.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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