|||||||
syndroom van brachydactylie en distaal symfalangisme (aandoening)
syndroom van brachydactylie en distaal symfalangisme
syndroom van Sillence
Brachydactyly and distal symphalangism syndrome
Sillence syndrome
Syndrome that resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. The syndrome has been described in one family with five affected individuals from three successive generations. Transmission appears to be autosomal dominant.
Id732956000
StatusPrimitive
Associated morphologyabnormaal korte groei
Finding sitegehele middenfalanx
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ74.8
RuleTRUE
AdviceALWAYS Q74.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified