| 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
| | In males the syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. Female carriers are usually physically and intellectually normal. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behavior. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. This syndrome is X-linked recessive and results from mutations in the ATRX gene. |
| | 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 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q98.8 | | Rule | TRUE | | Advice | ALWAYS Q98.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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