ORPHA:141127
Congenital tracheal stenosis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital tracheal stenosis | |
| fr | Sténose trachéale congénitale | |
| de | Trachealstenose, kongenitale | |
| es | Estenosis traqueal congénita | |
| it | Stenosi congenita della trachea | |
| nl | Congenitale tracheale stenose | |
| pt | Estenose traqueal, congénita | |
| pl | Wrodzone zwężenie tchawicy | |
| cs | Vrozená stenóza trachey | |
| uk | Вроджений стеноз трахеї | |
| zh | 先天性气管狭窄 | |
| tr | Doğumsal trakeal stenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603569 | E | validated | |
| ICD-10 | Q32.1 | NTBT | inclusion | validated |
| ICD-11 | LA73.0 | E | specific | validated |
| MONDO | 0011340 | E | validated | |
| MeSH | C000715347 | E | validated | |
| UMLS | C0265767 | E | validated | |
| GARD | 12008 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:435612Genetic tracheal anomaly
rare genetic diseases - ORPHA:156252Tracheal anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Canada | Class only | Validated | 16410137[PMID]_30159250[PMID]_32851317[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 100 000 | Canada | Value and class | Validated | 17712567[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
36 annotations · validated 2019-06-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001612 | Weak cry | |
| Frequent (79-30%) | ||
| HP:0030923 | 5-minute APGAR score of 3 | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002778 | Abnormal trachea morphology | |
| HP:0005607 | Abnormal tracheobronchial morphology | |
| HP:0011661 | Anomalous origin of left pulmonary artery from ascending aorta | |
| HP:0001561 | Polyhydramnios | |
| HP:0002098 | Respiratory distress | |
| HP:0030828 | Wheezing | |
| Occasional (29-5%) | ||
| HP:0002101 | Abnormal lung lobation | |
| HP:0002088 | Abnormal lung morphology | |
| HP:0002577 | Abnormal stomach morphology | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0002023 | Anal atresia | |
| HP:0031935 | Ascending aorta hypoplasia | |
| HP:0000961 | Cyanosis | |
| HP:0002247 | Duodenal atresia | |
| HP:0100867 | Duodenal stenosis | |
| HP:0002094 | Dyspnea | |
| HP:0001791 | Fetal ascites | |
| HP:0002245 | Meckel diverticulum | |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract | |
| HP:0012768 | Neonatal asphyxia | |
| HP:0001562 | Oligohydramnios | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0005151 | Preductal coarctation of the aorta | |
| HP:0004935 | Pulmonary artery atresia | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0025426 | Abnormal bronchus morphology | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0002781 | Upper airway obstruction | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 28132084[PMID]_28964311[PMID]_29370890[PMID]_29846792[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141127
- This record as JSON: /data/d/141127.json