Congenital esophageal diverticulum
Synonyms: Congenital esophageal pouch
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, non-syndromic, congenital esophageal malformation characterized by a false diverticulum, most often located in the upper, posterior esophagus (pharyngo-esophageal) but may occur anywhere along the esophagus (mid-thoracic or epiphrenic). Many patients are asymptomatic, but bad breath, chronic cough, respiratory distress, food regurgitation, dysphagia, chest pain or discomfort, and aspiration pneumonia are typical presenting manifestations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital esophageal diverticulum | Congenital esophageal pouch |
| fr | Diverticule congénital de l'oesophage | Poche oesophagienne congénitale |
| de | Ösophagusdivertikel, kongenitaler | |
| es | Divertículo esofágico congénito | Bolsa esofágica congénita |
| it | Diverticolo esofageo congenito | |
| nl | Congenitaal oesofageaal divertikel | Congenitale oesofageale buidel |
| pt | Divertículo esofágico congénito | |
| pl | Wrodzony uchyłek przełyku | = en |
| cs | Vrozený divertikl jícnu | = en |
| uk | Вроджений дивертикул стравоходу | Вроджений стравохідний мішок |
| zh | 先天性食管憩室 | 先天性食管憩室 |
| tr | Doğumsal özofagus divertikülü | Doğumsal özofageal kesesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q39.6 | NTBT | attributed | validated |
| ICD-11 | LB12.4 | E | specific | validated |
| MONDO | 0019620 | E | validated | |
| UMLS | C0266133 | 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 (1):
- ORPHA:108959Non-syndromic esophageal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91358
- This record as JSON: /data/d/91358.json