ORPHA:137914
Choanal atresia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Choanal atresia | |
| fr | Atrésie des choanes | Atrésie choanale |
| de | Choanalatresie | |
| es | Atresia de coanas | Atresia coanal |
| it | Atresia delle coane | |
| nl | Choane atresie | Atresia choanae · Choanale atresie |
| pt | Atresia das coanas | |
| pl | Atrezja nozdrzy | |
| cs | Choanální atrézie | |
| uk | Атрезія хоан | |
| zh | 鼻后孔闭锁 | |
| tr | Koanal atrezi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608911 | E | validated | |
| ICD-10 | Q30.0 | E | specific | validated |
| ICD-11 | LA70.2 | E | specific | validated |
| MONDO | 0012155 | E | validated | |
| MeSH | D002754 | E | validated | |
| UMLS | C0008297 | E | validated | |
| MedDRA | 10008587 | 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 (1):
- ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
17 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.2 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 8.6 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2012[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 9.8 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 14.6 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 21.3 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 15.7 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.9 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7.2 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.7 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.7 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.9 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.2 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6.3 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 12.6 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 8.9 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
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
16 annotations · validated 2019-06-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0031416 | Abnormal nasal mucus secretion | |
| HP:0011109 | Chronic sinusitis | |
| HP:0001742 | Nasal congestion | |
| Occasional (29-5%) | ||
| HP:0030842 | Choking episodes | |
| HP:0001363 | Craniosynostosis | |
| HP:0000961 | Cyanosis | |
| HP:0011968 | Feeding difficulties | |
| HP:0030215 | Inappropriate crying | |
| HP:0001601 | Laryngomalacia | |
| HP:0005321 | Mandibulofacial dysostosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002098 | Respiratory distress | |
| HP:0001607 | Subglottic stenosis | |
| HP:0002779 | Tracheomalacia | |
| HP:0002781 | Upper airway obstruction | |
| Very rare (<4-1%) | ||
| HP:0010442 | Polydactyly | |
Annotation source: 29939546[PMID]_29280877[PMID]_26106591[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137914
- This record as JSON: /data/d/137914.json