| syndroom van mandibulofaciale dysostose, macroblepharon en macrostomie (aandoening) | | syndroom van mandibulofaciale dysostose, macroblepharon en macrostomie | | syndroom van mandibulofaciale dysostosis, te ruime oogspleet en abnormaal grote mondomvang
syndroom van dysostosis mandibulofacialis, macroblepharon en macrostomie
syndroom van macroblepharon, ectropion, hypertelorisme en macrostomie
| | Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome | | Macroblepharon, ectropion, hypertelorism, macrostomia syndrome
| | Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary hemangioma. |
| | Id | 773557002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
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| SNOMED CT to Orphanet simple map | 357158 |
| 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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