| syndroom van congenitaal cataract, ataxie en doofheid (aandoening) | | syndroom van congenitaal cataract, ataxie en doofheid | | Congenital cataract with ataxia and deafness syndrome | | A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. |
| | 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 | G11.2 | | Rule | TRUE | | Advice | ALWAYS G11.2 | 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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