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Camptobrachydactyly (disorder)
Camptobrachydactyly
An extremely rare brachydactyly syndrome with characteristics of short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.
camptobrachydactylie
Id733045005
StatusPrimitive
Associated morphologyCongenital abnormal fusion
Finding siteToe structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbnormally short growth
Finding siteEntire digit
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationDecreased
InterpretsRange of joint movement
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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