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1186709006: Filamin A-related X-linked myxomatous valvular dysplasia (disorder)

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
5399504015 A rare genetic cardiac malformation characterized by 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
5399505019 A rare genetic cardiac malformation characterised by 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
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
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
5399504015 A rare genetic cardiac malformation characterized by 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
5399505019 A rare genetic cardiac malformation characterised by 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
3433701001000112 FLNA-assoziierte X-chromosomale myxomatose Herzklappendysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6178921000241114 dysplasie valvulaire myxomatose liée à l'X associée à FLNA (filamine A) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6178931000241111 dystrophie valvulaire associée à FLNA (filamine A) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6178941000241118 dysplasie valvulaire myxomatose liée à l'X associée à la filamine A fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6178921000241114 dysplasie valvulaire myxomatose liée à l'X associée à FLNA (filamine A) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6178931000241111 dystrophie valvulaire associée à FLNA (filamine A) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6178941000241118 dysplasie valvulaire myxomatose liée à l'X associée à la filamine A fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433701001000112 FLNA-assoziierte X-chromosomale myxomatose Herzklappendysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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