| 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. |
| | Id | 1186709006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 555877 |
| SNOMED CT to ICD-10 extended map | | Target | Q23.8 | | Rule | TRUE | | Advice | ALWAYS Q23.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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