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syndroom van brachydactylie en distaal symfalangisme (aandoening)
syndroom van brachydactylie en distaal symfalangisme
syndroom van Sillence
Brachydactyly and distal symphalangism syndrome
Sillence syndrome
A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978.
Id732956000
StatusPrimitive
Associated morphologyabnormaal korte groei
Finding sitegehele middenfalanx
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map3168
SNOMED CT to ICD-10 extended map
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