| syndroom van alfathalassemie en X-gebonden verstandelijke beperking (aandoening) | | syndroom van alfathalassemie en X-gebonden verstandelijke beperking | | ATR-X-syndroom
syndroom van alfathalassemie en X-gebonden mentale retardatie
alfathalassemie-X-gebonden intellectuele achterstand-syndroom
syndroom van alfathalassemie en X-gebonden verstandelijke handicap
syndroom van alfathalassemie en X-gebonden intellectuele achterstand
| | Alpha thalassemia X-linked intellectual disability syndrome | | Alpha thalassemia X-linked intellectual deficit
| | A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. |
| | Id | 715342005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D56.0 | | Term | Alfa-thalassemie |
| Target | Q98.8 | | Term | Overige gespecificeerde geslachtschromosoomafwijkingen, mannelijk fenotype |
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| SNOMED CT to Orphanet simple map | 847 |
| SNOMED CT to ICD-10 extended map | | Target | D56.0 | | Rule | TRUE | | Advice | ALWAYS D56.0 | 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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