Congenital tricuspid stenosis
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital tricuspid malformation characterized by narrowing of the tricuspid valve orifice due to congenital valve anomalies, such as incompletely developed leaflets, shortened and malformed chordae tendineae, small annulus, and/or abnormal number and size of papillary muscles, resulting in right ventricular inflow obstruction. Clinical presentation depends on the degree of stenosis, as well as the presence or absence of additional cardiac anomalies, and includes easy fatigability, swelling of the lower limbs, and hepatomegaly, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital tricuspid stenosis | |
| fr | Sténose tricuspide congénitale | |
| de | Trikuspidalklappenstenose, kongenitale | |
| es | Estenosis tricuspídea congénita | |
| it | Stenosi congenita della tricuspide | |
| nl | Congenitale tricuspidalisklepstenose | |
| pt | Estenose da tricúspide, congénita | |
| pl | Wrodzone zwężenie zastawki trójdzielnej | |
| cs | Vrozená trikuspidální stenóza | |
| uk | Вроджений трикуспідальний стеноз | |
| zh | 先天性三尖瓣狭窄 | |
| tr | Doğumsal triküspit darlık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q22.4 | E | specific | validated |
| ICD-11 | LA87.01 | E | specific | validated |
| MONDO | 0019813 | E | validated | |
| UMLS | C0265836 | E | validated | |
| MedDRA | 10010656 | 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:98721Congenital tricuspid malformation
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
9 annotations · validated 2017-06-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0010446 | Tricuspid stenosis | |
| Very frequent (99-80%) | ||
| HP:0030148 | Heart murmur | |
| Frequent (79-30%) | ||
| HP:0005180 | Tricuspid regurgitation | |
| Occasional (29-5%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0002615 | Hypotension | |
| HP:0002092 | Pulmonary arterial hypertension | |
| Excluded (0%) | ||
| HP:0006689 | Bacterial endocarditis | |
| HP:0100570 | Carcinoid tumor | |
| HP:0001370 | Rheumatoid arthritis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 7788951[PMID]_7743689[PMID]_7720297[PMID]_5837153[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95459
- This record as JSON: /data/d/95459.json