Tracheal agenesis
Synonyms: Tracheal atresia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital malformation characterized by either completely absent (agenesis), or severely underdeveloped (atresia) trachea. In both cases, the tracheal lumen is absent for at least a portion of its length, with no proximal-distal communication between the larynx and lower airways. Functionally and in terms of management, tracheal agenesis and tracheal atresia are equivalent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tracheal agenesis | Tracheal atresia |
| fr | Agénésie de la trachée | Atrésie de la trachée |
| de | Trachealagenesie | Trachealatresie |
| es | Agenesia traqueal | Atresia traqueal |
| it | Agenesia della trachea | Atresia della trachea |
| nl | Agenesie van trachea | Agenesie van luchtpijp · Atresie van trachea · Tracheale agenesie |
| pt | Agenesia traqueal | Atrésia traqueal |
| pl | Agenezja tchawicy | = en |
| cs | Ageneze trachey | = en |
| uk | Агенезія трахеї | Атрезія трахеї |
| zh | 气管发育不全 | |
| tr | Trakeal agenezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q32.1 | NTBT | attributed | validated |
| ICD-11 | LA73.Y | NTBT | index | validated |
| MONDO | 0018058 | E | validated | |
| MeSH | C536975 | E | validated | |
| UMLS | C1261567 | E | validated | |
| GARD | 5233 | 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:108993Non-syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | — | 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.
HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0001561 | Polyhydramnios | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0100682 | Tracheal atresia | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3346
- This record as JSON: /data/d/3346.json