| syndroom van nachtblindheid, skeletafwijkingen en dysmorfie (aandoening) | | syndroom van nachtblindheid, skeletafwijkingen en dysmorfie | | Hunter-Thompson-Reed-syndroom
| | Night blindness, skeletal anomalies, dysmorphism syndrome | | Hunter Thompson Reed syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. |
| | Id | 1237228009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 1390 |
| 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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