| syndroom van oligodactylie en sequentie van Robin (aandoening) | | syndroom van oligodactylie en sequentie van Robin | | syndroom van micrognathie, gespleten gehemelte, glossoptose en oligodactylie
Pierre Robin-syndroom en oligodactylie
syndroom van micrognathie, palatoschisis, glossoptosis en oligodactylie
syndroom van Pierre Robin-sequentie en oligodactylie
syndroom van Robin-sequentie en oligodactylie
| | Robin sequence and oligodactyly syndrome | | Pierre Robin sequence, oligodactyly syndrome
| | Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. |
| | Id | 770681000 | | 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 | 3104 |
| 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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