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Timothy-syndroom (aandoening)
Timothy-syndroom
LQTS type 8
syndroom van Timothy
lang-QT-syndroom type 8
lang-QT-intervalsyndroom type 8
Timothy syndrome
Long QT syndrome type 8
A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT.
Id1230096008
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Finding sitestructuur van hart
Occurrencecongenitaal
SNOMED CT to Orphanet simple map65283
SNOMED CT to ICD-10 extended map
TargetI49.8
RuleTRUE
AdviceALWAYS I49.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
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