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syndroom van hartafwijking, hamartoom van tong en polysyndactylie (aandoening)
syndroom van hartafwijking, hamartoom van tong en polysyndactylie
syndroom van Ostravik-Lindemann-Solberg
Heart defect, tongue hamartoma, polysyndactyly syndrome
Ostravik Lindemann Solberg syndrome
A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15.
Id783738002
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhamartoom
Finding sitestructuur van lingua
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