48,XYYY-syndroom (aandoening) | | 48,XYYY-syndroom | | 48,XYYY syndrome | | A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility are frequently reported in adult males. |
| Id | 733625003 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q98.8 | Term | Overige gespecificeerde geslachtschromosoomafwijkingen, mannelijk fenotype |
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SNOMED CT to Orphanet simple map | 99329 |
SNOMED CT to ICD-10 extended map | Target | Q98.8 | Rule | TRUE | Advice | ALWAYS Q98.8 | 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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