Agenesis of the superior vena cava
Synonyms: Absence of the SVC · Absence of the superior caval vein · Absence of the superior vena cava · Agenesis of the SVC · Agenesis of the superior caval vein
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the superior vena cava (SVC). Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Agenesis of the superior vena cava | Absence of the SVC · Absence of the superior caval vein · Absence of the superior vena cava · Agenesis of the SVC · Agenesis of the superior caval vein |
| fr | Agénésie de la veine cave supérieure | |
| de | Vena cava superior, Agenesie der | VCS-Agenesie · Agenesie der oberen Hohlvene |
| es | Agenesia de la vena cava superior | Agenesia de VCS · Ausencia de VCS · Ausencia de vena cava superior |
| it | Agenesia della vena cava superiore | Agenesia della VCS · Assenza della VCS · Assenza della vena cava superiore |
| nl | Agenesie van vena cava superior | Afwezigheid van VCS · Afwezigheid van bovenste holle ader · Afwezigheid van vena cava superior · Agenesie van VCS · Agenesie van bovenste holle ader |
| pt | Agenesia da veia cava superior, direita | |
| pl | Agnezja żyły głównej górnej | Agenezja żyły głównej górnej · Agnezja SVC · Brak SVC · Brak żyły głównej górnej · Brak żyły głównej przedniej |
| cs | Ageneze horní duté žíly | Ageneze SVC · Chybění VCS · Chybění horní kavální žíly · Chybění vena cava superior |
| uk | Агенезія верхньої порожнистої вени | Відсутність верхньої плечової вени · Відсутність верхньої порожнистої вени · Відсутність SVC · Агенезія верхньої плечової вени · Агенезу SVC |
| zh | 上腔静脉发育不良 | SVC不发育 |
| tr | Üstün vena kava agenezi | SVC yokluğu · SVC agenezi · Süperior vena kava yokluğu · Süperior kaval damarının yokluğu · Süperior kaval damarının agenezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q26.8 | NTBT | inclusion | validated |
| ICD-11 | LA86.Y | NTBT | index | validated |
| MONDO | 0020445 | E | validated | |
| UMLS | C0265929 | 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:95498Congenital anomaly of superior vena cava
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases
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/99114
- This record as JSON: /data/d/99114.json