| syndroom van ossa suturalia, micrognathie, afwijkende gebitselementen en progeroïde kenmerken (aandoening) | | syndroom van ossa suturalia, micrognathie, afwijkende gebitselementen en progeroïde kenmerken | | syndroom van ossa suturarum, micrognathie, abnormale dentes en progeroïde kenmerken
LEMD2-geassocieerde nucleaire envelopopathie met vroege progeroïde kenmerken
progeroïde syndroom van Marbach-Rustad
syndroom van naadbeenderen, micrognathie, abnormale tanden en/of kiezen en progeroïde kenmerken
syndroom van ossa suturarum, micrognathie, abnormale dentitie en progeroïde kenmerken
| | Wormian bones, micrognathia, abnormal dentition, progeroid syndrome | | Marbach Rustad progeroid syndrome
LEMD2 gene associated nuclear envelopathy with early progeroid appearance
| | A rare multiple congenital anomalies/dysmorphic syndrome characterized by progeroid appearance (with triangular face, prominent eyes, crooked nose, septum deviation, micrognathia, dental crowding, supernumerary teeth and delayed dentition), microcephaly, skeletal features including wormian bones and hypoplastic clavicles, generalized lipoatrophy, thin skin, prominent veins and intention tremor. Additional clinical features may include developmental delay, short stature and low bone density. |
| | Id | 1388881006 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | Q87.5 | | Rule | TRUE | | Advice | ALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
