Congenital anomaly of hair
Intellectual disability
Multiple malformation syndrome with facial-limb defects as major feature
Polydactyly
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Intellectual disability, polydactyly, uncombable hair syndrome (disorder)
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.
syndroom van verstandelijke beperking, polydactylie en onkambaar haar
Kozlowski-Krajewska-syndroom
syndroom van Kozlowski-Krajewska
Id763742008
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteHair structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologySupernumerary structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
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