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1186709006: filamine A-gerelateerde X-gebonden myxomateuze dysplasie van hartklep (aandoening)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4667383011 FLNA-related X-linked myxomatous valvular dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667384017 Filamin A-related X-linked myxomatous valvular dysplasia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667385016 Filamin A-related X-linked myxomatous valvular dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667386015 FLNA-related valvular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
13244701000146119 FLNA-gerelateerde klepdystrofie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13244711000146117 FLNA-gerelateerde X-gebonden myxomateuze dysplasie van hartklep nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13308751000146114 filamine A-gerelateerde X-gebonden myxomateuze dysplasie van hartklep (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13308761000146112 filamine A-gerelateerde X-gebonden myxomateuze dysplasie van hartklep nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4667387012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
FLNA-related X-linked myxomatous valvular dysplasia Is a X-linked recessive hereditary disease true Inferred relationship Some
FLNA-related X-linked myxomatous valvular dysplasia Is a Cardiovascular system hereditary disorder true Inferred relationship Some
FLNA-related X-linked myxomatous valvular dysplasia Is a Developmental hereditary disorder true Inferred relationship Some
FLNA-related X-linked myxomatous valvular dysplasia Is a Myxoid transformation of cardiac valve true Inferred relationship Some
FLNA-related X-linked myxomatous valvular dysplasia Is a Congenital anomaly of heart valve true Inferred relationship Some
FLNA-related X-linked myxomatous valvular dysplasia Is a Congenital anomaly of atrioventricular valve false Inferred relationship Some
FLNA-related X-linked myxomatous valvular dysplasia Occurrence Congenital true Inferred relationship Some 1
FLNA-related X-linked myxomatous valvular dysplasia Finding site Atrioventricular valve false Inferred relationship Some 1
FLNA-related X-linked myxomatous valvular dysplasia Associated morphology Myxoid degeneration true Inferred relationship Some 1
FLNA-related X-linked myxomatous valvular dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
FLNA-related X-linked myxomatous valvular dysplasia Finding site Atrioventricular (non-mitral, non-tricuspid) valve structure true Inferred relationship Some 1
FLNA-related X-linked myxomatous valvular dysplasia Is a Abnormality of atrioventricular (non-mitral, non-tricuspid) valve true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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