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Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder)
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.
syndroom van hartafwijking, hamartoom van tong en polysyndactylie
syndroom van Ostravik-Lindemann-Solberg
Id783738002
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteHeart structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital abnormal fusion
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHamartoma
Finding siteTongue structure
Associated morphologySupernumerary structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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