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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.
Id773578004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van wervelkolom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van costa
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified