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
| | Syndrome with 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 |
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 |
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SNOMED CT to Orphanet simple map | 2511 |
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 |
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