| syndroom van kleine gestalte, Pierre Robin-sequentie, gespleten onderkaak, misvormingen van hand en klompvoet (aandoening) | | syndroom van kleine gestalte, Pierre Robin-sequentie, gespleten onderkaak, misvormingen van hand en klompvoet | | syndroom van Richieri Costa-Pereira
| | Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome | | Robin sequence with cleft mandible and limb anomalies syndrome
Richieri Costa Pereira syndrome
| | Syndrome with characteristics of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs) and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and highly arched palate was also observed. Transmission is autosomal recessive. There is evidence this syndrome is caused by homozygous or compound heterozygous mutation in the EIF4A3 gene on chromosome 17q25. |
| | Id | 723998001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
|
| SNOMED CT to Orphanet simple map | 3102 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
