| syndroom van verstandelijke beperking, brachydactylie en sequentie van Robin (aandoening) | | syndroom van verstandelijke beperking, brachydactylie en sequentie van Robin | | 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
syndroom van verstandelijke beperking, brachydactylie, micrognathie, palatoschisis en glossoptosis
| | Intellectual disability, brachydactyly, Pierre Robin syndrome | | Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by 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. |
| | Id | 763744009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
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| SNOMED CT to Orphanet simple map | 364577 |
| 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 |
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