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syndroom van cataract, congenitale hartafwijking en neuralebuisdefect (aandoening)
syndroom van cataract, congenitale hartafwijking en neuralebuisdefect
syndroom van cataract, congenitale hartaandoening en neuralebuisdefect
syndroom van cataract, congenitale hartziekte en neuralebuisdefect
Cataract, congenital heart disease, neural tube defect syndrome
A multiple congenital anomaly syndrome with characteristics of sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures and joint limitation are also reported.
Id726704006
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ24.9
RuleTRUE
AdviceALWAYS Q24.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ07.9
RuleTRUE
AdviceALWAYS Q07.9
CorrelationSNOMED CT source code to target map code correlation not specified