ORPHA:137920
Choanal atresia, bilateral
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, usually sporadic, congenital nose and cavum anomaly characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. It is caused by blockade of the nose on both sides by bony or soft tissue formed during embryological development.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Choanal atresia, bilateral | |
| fr | Atrésie bilatérale des choanes | Atrésie choanale bilatérale |
| de | Choanalatresie, bilaterale | |
| es | Atresia de coanas bilateral | Atresia coanal bilateral |
| it | Atresia coanale bilaterale | |
| nl | Choane atresie, bilaterale | |
| pt | Atresia das coanas, bilateral | |
| pl | Obustronna atrezja nozdrzy | |
| cs | Choanální atrézie, bilaterální | |
| uk | Атрезія хоан, двостороння | |
| zh | 双侧鼻后孔闭锁 | |
| tr | Koanal atrezi, iki taraflı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q30.0 | NTBT | attributed | validated |
| ICD-11 | LA70.2 | NTBT | index | validated |
| MONDO | 0015313 | E | validated | |
| UMLS | C4025317 | E | validated | |
| GARD | 19890 | 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:137914Choanal atresia
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137920
- This record as JSON: /data/d/137920.json