| syndroom van cataract en glaucoom (aandoening) | | syndroom van cataract en glaucoom | | Cataract glaucoma syndrome | | This syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations. The disorder is transmitted as an autosomal dominant trait and is caused by dysfunction of the PITX3 gene (localized to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye. |
| | Id | 718851007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q12.0 | | Term | Congenitaal cataract |
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| SNOMED CT to Orphanet simple map | 162 |
| 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 |
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