||||||||||||||
syndroom van torticollis, keloïden, cryptorchisme en dysplasie van nier (aandoening)
syndroom van torticollis, keloïden, cryptorchisme en dysplasie van nier
torticollis-keloïden-cryptorchisme-renale dysplasie-syndroom
syndroom van torticollis, keloïden, cryptorchisme en nierdysplasie
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome
An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.
Id771266007
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van nier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycontractuur
Finding sitestructuur van skeletspier van hals
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified