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Timothy-syndroom type 2 (aandoening)
Timothy-syndroom type 2
syndroom van Timothy type 2
atypisch syndroom van Timothy
Timothy syndrome type 2
Timothy syndrome atypical type
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes.
Id719907006
StatusPrimitive
Finding sitestructuur van hart
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
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