ORPHA:3189
Congenital pulmonary valvar stenosis
Synonyms: Congenital stenosis of pulmonary valve
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital pulmonary valvar stenosis | Congenital stenosis of pulmonary valve |
| fr | Sténose valvulaire pulmonaire congénitale | Sténose congénitale de la valve pulmonaire |
| de | Valvuläre Pulmonalstenose, kongenitale | Angeborene Stenose der Pulmonalklappe · Pulmonalklappestenose, kongenitale |
| es | Estenosis valvular pulmonar congénita | Estenosis congénita de válvula pulmonar |
| it | Stenosi congenita della valvola polmonare | |
| nl | Congenitale pulmonalisklepstenose | Congenitale stenose van pulmonalisklep |
| pt | Estenose valvular pulmonar congénita | Estenose congénita da válvula pulmonar |
| pl | Wrodzone zwężenie zastawki tętnicy płucnej | = en |
| cs | Vrozená stenóza pulmonální chlopně | = en |
| uk | Вроджений стеноз легеневого клапана | Вроджений стеноз легеневого клапана |
| zh | 先天性肺动脉瓣狭窄 | = en |
| tr | Doğumsal pulmoner kapak darlığı | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265500 | BTNT | validated | |
| ICD-10 | Q22.1 | E | specific | validated |
| ICD-11 | LA8A.00 | E | specific | validated |
| MONDO | 0017865 | E | validated | |
| UMLS | C0162164 | E | validated | |
| MedDRA | 10037451 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98719Pulmonary artery or pulmonary branch anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
20 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 27.2 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 19.6 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 29.1 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 14.6 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 59.5 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 63.6 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 63.1 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.6 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 26.1 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 48.2 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6.3 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 35.3 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.4 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 23.7 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 25.7 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 98.4 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 42.5 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 19.4 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | — | Europe | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001602 | Laryngeal stenosis | |
| Frequent (79-30%) | ||
| HP:0001631 | Atrial septal defect | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3189
- This record as JSON: /data/d/3189.json