Pulmonary agenesis
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pulmonary agenesis | |
| fr | Agénésie pulmonaire | |
| de | Lungenagenesie | |
| es | Agenesia pulmonar | |
| it | Agenesia polmonare | |
| nl | Pulmonale agenesie | |
| pt | Agenesia pulmonar | |
| pl | Agenezja płuc | |
| cs | Ageneze plic | |
| uk | Легенева агенезія | |
| zh | 肺发育不全 | |
| tr | Pulmoner agenezis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q33.3 | E | specific | validated |
| ICD-11 | LA75.1 | E | specific | validated |
| MONDO | 0020110 | E | validated | |
| MeSH | C562992 | E | validated | |
| UMLS | C0265780 | E | validated | |
| GARD | 9119 | E | validated | |
| MedDRA | 10037322 | 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:108993Non-syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic diseases - ORPHA:182111Respiratory malformation
rare respiratory 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/984
- This record as JSON: /data/d/984.json