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autosomaal dominant syndroom van pre-axiale polydactylie en hypertrichose van bovenste deel van rug (aandoening)
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
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.
Id1187115008
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyverandering in groei
Finding sitestructuur van pilus
referentieset met complexe 'mapping' naar ICD-10
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