| syndroom van gewrichtscontracturen, ontwikkelingsachterstand en Pierre Robin-sequentie (aandoening) | | syndroom van gewrichtscontracturen, ontwikkelingsachterstand en Pierre Robin-sequentie | | syndroom van gewrichtscontracturen, ontwikkelingsachterstand en sequentie van Robin
5q23-microdeletiesyndroom
| | Joint contractures, developmental delay, Pierre Robin syndrome | | 5q23 microdeletion syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate), joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices and ocular abnormalities among others. |
| | Id | 1216940001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 436003 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q93.5 | | Rule | TRUE | | Advice | ALWAYS Q93.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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