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acrorenaal-oculair syndroom (aandoening)
acrorenaal-oculair syndroom
Acrorenoocular syndrome
Acro-renal-ocular syndrome
A syndrome of multiple congenital anomalies with characteristics of radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula) and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis and Duane anomaly).The phenotype overlaps with related disorders including Okihiro syndrome and Holt-Oram syndrome. Transmission is autosomal dominant.
Id720415006
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van nier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitebotstructuur van radius
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified