| syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking (aandoening) | | syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking | | syndroom van spondylocostale dysostose, hypospadie en mentale retardatie
syndroom van spondylocostale dysostose, hypospadie en verstandelijke handicap
| | Spondylocostal dysostosis, hypospadias, intellectual disability syndrome | | A rare genetic bone developmental disorder characterized by generalized vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers. |
| | Id | 773578004 | | Status | Primitive |
| referentieset met complexe 'mapping' naar ICD-10 | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | 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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