| syndroom van microbrachycefalie, ptose en cheiloschisis (aandoening) | | syndroom van microbrachycefalie, ptose en cheiloschisis | | syndroom van Richieri Costa-Guion Almeida-Ramos
syndroom van microbrachycefalie, ptosis en gespleten lip
| | Microbrachycephaly, ptosis, cleft lip syndrome | | Richieri Costa Guion Almeida Ramos syndrome
| | Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. |
| | Id | 723403008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| 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 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 |
|
|
