| syndroom van afwijking van palatum, grote tussenruimte tussen gebitselementen, faciale dysmorfie en ontwikkelingsachterstand (aandoening) | | syndroom van afwijking van palatum, grote tussenruimte tussen gebitselementen, faciale dysmorfie en ontwikkelingsachterstand | | syndroom van palatinale afwijking, ver uit elkaar staande tanden en/of kiezen, faciale dysmorfie en ontwikkelingsachterstand
syndroom van anomalie van verhemelte, grote tussenruimte tussen dentes, faciale dysmorfie en ontwikkelingsachterstand
syndroom van afwijking van gehemelte, grote tussenruimte tussen gebitselementen, faciale dysmorfie en ontwikkelingsachterstand
| | Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | | Palatal anomalies, multiple diastemata, facial dysmorphism, developmental delay syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth) and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly and hypoplastic toenails) a single palmar crease, lower limb hypertonia, joint hypermobility along with ocular and urogenital anomalies. |
| | Id | 1172889005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 477993 |
| 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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