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filamine A-gerelateerde X-gebonden myxomateuze dysplasie van hartklep (aandoening)
FLNA-gerelateerde X-gebonden myxomateuze dysplasie van hartklep
FLNA-gerelateerde klepdystrofie
filamine A-gerelateerde X-gebonden myxomateuze dysplasie van hartklep
FLNA-related X-linked myxomatous valvular dysplasia
Filamin A-related X-linked myxomatous valvular dysplasia
FLNA-related valvular dystrophy
A rare genetic cardiac malformation with characteristics of progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females.
Id1186709006
StatusPrimitive
ICD-10 complex map reference set
TargetQ23.8
RuleTRUE
AdviceALWAYS Q23.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified