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thoracomelische dysplasie (aandoening)
thoracomelische dysplasie
syndroom van Rivera-Perez-Salas
Thoracomelic dysplasia
Thoracolimb dysplasia Rivera type
Rivera Perez Salas syndrome
An extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.
Id783003009
StatusPrimitive
Associated morphologyhypoplasie
Finding sitebotstructuur van pelvis
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
TargetQ77.2
RuleTRUE
AdviceALWAYS Q77.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified