Cardiovascular system hereditary disorder
Congenital anomaly of atrioventricular valve
Congenital anomaly of heart valve
Developmental hereditary disorder
Myxoid transformation of cardiac valve
X-linked recessive hereditary disease
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Filamin A-related X-linked myxomatous valvular dysplasia (disorder)
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.
FLNA-gerelateerde X-gebonden myxomateuze dysplasie van hartklep
filamine A-gerelateerde X-gebonden myxomateuze dysplasie van hartklep
FLNA-gerelateerde klepdystrofie
Id1186709006
StatusPrimitive
Associated morphologyMyxoid degeneration
Finding siteAtrioventricular valve
OccurrenceCongenital
Pathological processPathological developmental process
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