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syndroom van verstandelijke beperking, polydactylie en onkambaar haar (aandoening)
syndroom van verstandelijke beperking, polydactylie en onkambaar haar
Kozlowski-Krajewska-syndroom
syndroom van Kozlowski-Krajewska
Intellectual disability, polydactyly, uncombable hair syndrome
Kozlowski Krajewska syndrome
A multiple congenital anomalies/dysmorphic syndrome with characteristics of intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognathism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.
Id763742008
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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