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Sugarman-brachydactylie (aandoening)
Sugarman-brachydactylie
Sugarman-Hager-Kulik-syndroom
syndroom van Sugarman-Hager-Kulik
Sugarman brachydactyly
Sugarman Hager Kulik syndrome
Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.
Id1187132007
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van falanx
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map498602
SNOMED CT to ICD-10 extended map
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified