| 17q11.2-microduplicatiesyndroom (aandoening) | | 17q11.2-microduplicatiesyndroom | | trisomie 17q11.2
syndroom van Grisart-Destrée
| | 17q11.2 microduplication syndrome | | Trisomy 17q11.2
Grisart Destree syndrome
| | Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance. |
| | Id | 719583002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q92.3 | | Term | Trisomie van kleinste deel chromosoom |
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| SNOMED CT to Orphanet simple map | 139474 |
| SNOMED CT to ICD-10 extended map | | Target | Q92.3 | | Rule | TRUE | | Advice | ALWAYS Q92.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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