Pulmonary artery hypoplasia
Synonyms: PAH · Unilateral Pulmonary Artery Hypoplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, including shortness of breath, recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pulmonary artery hypoplasia | PAH · Unilateral Pulmonary Artery Hypoplasia |
| fr | Hypoplasie de l'artère pulmonaire | Hypoplasie unilatérale de l'artère pulmonaire |
| de | Pulmonalarterienhypoplasie | Pulmonalarterienhypoplasie, unilaterale |
| es | Hipoplasia de la arteria pulmonar | Hipoplasia unilateral de la arteria pulmonar |
| it | Ipoplasia dell'arteria polmonare | |
| nl | Hypoplasie van longslagader | PAH · Unilaterale hypoplasie van arteria pulmonalis |
| pt | Hipoplasia da artéria pulmonar | |
| pl | Hipoplazja tętnicy płucnej | = en |
| cs | Hypoplázie plicní arterie | = en |
| uk | Гіпоплазія легеневої артерії | PAH · Одностороння гіпоплазія легеневої артерії |
| zh | 肺动脉发育不全 | 单侧肺动脉发育不良 |
| tr | Pulmoner arter hipoplazisi | PAH · Unilateral pulmoner arter hipoplazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q25.7 | NTBT | inclusion | validated |
| ICD-11 | LA8B.1 | NTBT | index | validated |
| MONDO | 0020419 | E | validated | |
| UMLS | C0265910 | 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 (2):
- ORPHA:98719Pulmonary artery or pulmonary branch anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 12.5 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99083
- This record as JSON: /data/d/99083.json