| syndroom van palatoschisis, congenitale hartafwijking en verstandelijke beperking (aandoening) | | syndroom van palatoschisis, congenitale hartafwijking en verstandelijke beperking | | syndroom van gehemeltespleet, congenitaal hartdefect en mentale retardatie
syndroom van gespleten gehemelte, aangeboren hartafwijking en verstandelijke handicap
| | Cleft palate, congenital heart defect, intellectual disability syndrome | | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital heart defect (including atrial or ventricular septal defects and aortic coarctation), cleft palate, and variable degree of developmental delay and intellectual disability. Most patients reported to also have autism spectrum disorder. Overlapping facial features were reported in some patients including broad forehead with high anterior hairline, finely arched eyebrows, short philtrum, thin or tented upper lip. Other clinical features may involve mild distal skeletal abnormalities, hypotonia, hearing loss, feeding problems and skin abnormalities. |
| | Id | 1335869007 | | Status | Primitive |
| 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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