| syndroom van retinopathie, anemie en afwijkingen van centraal zenuwstelsel (aandoening) | | syndroom van Revesz | | dyskeratosis congenita met bilaterale exsudatieve retinopathie
syndroom van retinopathie, anemie en afwijkingen van centraal zenuwstelsel
| | Revesz syndrome | | Dyskeratosis congenita with bilateral exudative retinopathy
Revesz DeBuse syndrome
Retinopathy, anemia, central nervous system anomalies syndrome
| | A rare severe phenotypic variant of dyskeratosis congenita with onset in early childhood. The syndrome has features of dyskeratosis congenita (for example skin hyper/hypopigmentation, nail dystrophy, high risk of bone marrow failure and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy and intracranial calcifications. |
| | Id | 723512008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q82.8 | | Term | Overige gespecificeerde congenitale misvormingen van huid |
| Target | H35.0 | | Term | 'Background' retinopathie en vasculaire veranderingen van retina |
| Target | D61.9 | | Term | Aplastische anemie, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 3088 |
| SNOMED CT to ICD-10 extended map | | Target | Q82.8 | | Rule | TRUE | | Advice | ALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H35.0 | | Rule | TRUE | | Advice | ALWAYS H35.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G93.8 | | Rule | TRUE | | Advice | ALWAYS G93.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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