||||||||
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
A rare genetic syndrome with limb malformations as a major feature with characteristics of preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray and syndactyly between digits I and II in the hands, large or duplicated hallux and syndactyly between toes I and II in the feet.
autosomaal dominant syndroom van pre-axiale polydactylie en hypertrichose van bovenste deel van rug
autosomaal dominant syndroom van pre-axiale polydactylie en hypertrichose van bovenrug
Id1187115008
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure of extremity
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologySupernumerary structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyGrowth alteration
Finding siteHair structure
ICD-10 complex map reference set
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