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artro-oftalmopathie type 4 (aandoening)
artro-oftalmopathie type 4
Stickler-dysplasie type 4
Stickler-syndroom type 4
Stickler syndrome type 3
Stickler syndrome non-ocular type
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. There is evidence the disease is caused by heterozygous mutation in the COL11A2 gene on chromosome 6p21.
Id783097004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Finding sitestructuur van auris
Occurrencecongenitaal
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified