Congenital tracheomalacia
Synonyms: Congenital major airway collapse
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- Infancy
- Status
- active
Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital tracheomalacia | Congenital major airway collapse |
| fr | Trachéomalacie congénitale | |
| de | Tracheomalazie, kongenitale | Trachealkollaps, kongenitaler |
| es | Traqueomalacia congénita | Colapso congénito grave de las vías respiratorias |
| it | Tracheomalacia congenita | Collasso grave congenito delle vie respiratorie |
| nl | Congenitale tracheomalacie | Congenitale ernstige collaps van luchtwegen |
| pt | Traqueomalacia congénita | |
| pl | Wrodzone rozmiękanie tchawicy | Wrodzona tracheomalacja |
| cs | Vrozená tracheomalacie | Vrozený kolaps velkých dýchacích cest |
| uk | Вроджена трахеомаляція | Вроджений колапс великих дихальних шляхів |
| zh | 先天性气管软化 | 先天性主气道塌陷 |
| tr | Doğumsal trakeomalazi | Doğumsal majör hava yolu çökmesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q32.0 | E | specific | validated |
| ICD-11 | LA73.1 | E | specific | validated |
| MONDO | 0019804 | E | validated | |
| MONDO | 19804 | E | validated | |
| MeSH | C557675 | E | validated | |
| UMLS | C0392109 | E | validated | |
| GARD | 10515 | E | validated | |
| MedDRA | 10010654 | 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 (4):
- ORPHA:435612Genetic tracheal anomaly
rare genetic diseases - ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical thoracic diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases - ORPHA:156252Tracheal anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
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 | — | Europe | 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
45 annotations · validated 2021-10-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004468 | Anomalous tracheal cartilage | |
| HP:0002779 | Tracheomalacia | |
| Frequent (79-30%) | ||
| HP:0012735 | Cough | |
| HP:0032355 | Decreased peak expiratory flow | |
| HP:0001601 | Laryngomalacia | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0010307 | Stridor | |
| HP:0030828 | Wheezing | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0030966 | Abnormal pulmonary artery morphology | |
| HP:0000973 | Cutis laxa | |
| HP:0000961 | Cyanosis | |
| HP:0002094 | Dyspnea | |
| HP:0002032 | Esophageal atresia | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001609 | Hoarse voice | |
| HP:0030864 | Intercostal retractions | |
| HP:0001686 | Loss of voice | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0032177 | Parenchymal consolidation | |
| HP:0002090 | Pneumonia | |
| HP:0002107 | Pneumothorax | |
| HP:0001622 | Premature birth | |
| HP:0031245 | Productive cough | |
| HP:0002575 | Tracheoesophageal fistula | |
| Very rare (<4-1%) | ||
| HP:0002104 | Apnea | |
| HP:0001631 | Atrial septal defect | |
| HP:0002110 | Bronchiectasis | |
| HP:0002780 | Bronchomalacia | |
| HP:0001640 | Cardiomegaly | |
| HP:0011590 | Double aortic arch | |
| HP:0002097 | Emphysema | |
| HP:0010773 | Partial anomalous pulmonary venous return | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0012020 | Right aortic arch | |
| HP:0001750 | Single ventricle | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0002786 | Tracheobronchomalacia | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 31985984[PMID]_30426955[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95430
- This record as JSON: /data/d/95430.json