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Timothy-syndroom type 1 (aandoening)
Timothy-syndroom type 1
congenitaal lang-QT-intervalsyndroom met syndactylie
syndroom van Timothy type 1
Timothy syndrome type 1
Long QT syndrome with syndactyly
Timothy syndrome classic 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.
Id699256006
StatusPrimitive
Finding sitestructuur van hart
Occurrencecongenitaal
SNOMED CT to ICD-10 extended map
TargetI45.8
RuleTRUE
AdviceALWAYS I45.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ70.9
RuleTRUE
AdviceALWAYS Q70.9
CorrelationSNOMED CT source code to target map code correlation not specified