| syndroom van 17p13.3-microduplicatie (aandoening) | | syndroom van 17p13.3-microduplicatie | | 17p13.3-microduplicatiesyndroom
| | 17p13.3 microduplication syndrome | | Trisomy 17p13.3
| | This syndrome has characteristics of variable psychomotor delay and dysmorphic features. It has been recently described in less than ten patients. Clinical presentation is variable but it is possible to delineate a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth. The microduplication encompasses the same region that is deleted in Miller-Dieker (17p13 deletion) syndrome. The variable size of this de novo duplication indicates that mechanisms other than nonallelic homologous recombination may be responsible. |
| | Id | 719582007 | | 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 | 217385 |
| 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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