Congenital pulmonary veins atresia or stenosis
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
A rare progressive and life-threatening anomaly of the great vessels characterized by narrowing and obstruction of one or more normally positioned pulmonary vein at their junction with the left atrium. Presentation is typically during early infancy with dyspnea, tachypnea, and repeated pulmonary infections. Eventually, when all pulmonary veins of one lung are affected, the disorder results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital pulmonary veins atresia or stenosis | |
| fr | Atrésie ou sténose congénitale des veines pulmonaires | |
| de | Pulmonalvenenatresie/-stenose, kongenitale | |
| es | Estenosis o atresia congénita de las venas pulmonares | |
| it | Stenosi o atresia congenita delle vene polmonari | |
| nl | Congenitale longaderatresie of -stenose | |
| pt | Atresia ou estenose congénita das veias pulmonares | |
| pl | Wrodzona atrezja lub zwężenie żył płucnych | |
| cs | Vrozená atrézie nebo stenóza plicních žil | |
| uk | Вроджена атрезія або стеноз легеневих вен | |
| zh | 先天性肺静脉闭锁或狭窄 | |
| tr | Doğumsal pulmoner ven atrezisi veya stenozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q26.8 | NTBT | attributed | validated |
| ICD-11 | LA86.3 | E | specific | validated |
| MONDO | 0017864 | E | validated | |
| MONDO | 17864 | E | validated | |
| UMLS | C5680865 | E | validated | |
| GARD | 4598 | 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 (3):
- ORPHA:98729Congenital pulmonary veins anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases - ORPHA:506222Rare disorder potentially indicated for lung transplant
rare transplant-related disorders - ORPHA:182111Respiratory malformation
rare respiratory diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3188
- This record as JSON: /data/d/3188.json