| Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) | | Intellectual disability, brachydactyly, Pierre Robin syndrome | | A rare developmental defect during embryogenesis with characteristics of mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set and posteriorly angulated ears, bulbous nose, long/flat philtrum and bow-shaped upper lip). Skeletal anomalies such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. | | syndroom van verstandelijke beperking, brachydactylie en sequentie van Robin | | syndroom van verstandelijke beperking, brachydactylie, micrognathie, palatoschisis en glossoptosis
syndroom van cognitieve beperking, brachydactylie en Robin-sequentie
syndroom van verstandelijke beperking, brachydactylie, micrognathie, palatoschisis en glossoptose
syndroom van cognitieve beperking, brachydactylie en Pierre Robin-sequentie
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| | Id | 763744009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | 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 |
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