Mitral valve agenesis
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitral valve agenesis | |
| fr | Agénésie des valves mitrales | |
| de | Mitralklappenagenesie | |
| es | Agenesia de la válvula mitral | |
| it | Agenesia della valvola mitrale | |
| nl | Mitralisklepagenesie | |
| pt | Agenesia da válvula mitral | |
| pl | Agnezja zastawki mitralnej | |
| cs | Ageneze mitrální chlopně | |
| uk | Агенезія мітрального клапана | |
| zh | 二尖瓣发育不全 | |
| tr | Mitral kapak agenezisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q23.3 | NTBT | attributed | validated |
| ICD-11 | LA87.1Y | NTBT | attributed | validated |
| MONDO | 0020403 | E | validated | |
| UMLS | C0685721 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:95464Congenital mitral valve insufficiency and/or stenosis
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99062
- This record as JSON: /data/d/99062.json