Isolated esophageal duplication cyst
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated esophageal duplication cyst | |
| fr | Duplication oesophagienne kystique isolée | |
| de | Isolierte Duplikationszyste des Ösophagus | |
| es | Quiste de duplicación esofágica aislado | |
| it | Cisti da duplicazione esofagea | |
| nl | Geïsoleerde duplicatiecyste van oesofagus | Geïsoleerde duplicatiecyste van slokdarm · Geïsoleerde oesofageale duplicatiecyste |
| pt | Quisto esofágico de duplicação isolado | |
| pl | Torbielowate zdwojenie przełyku | |
| cs | Dvojitá cysta jícnu | |
| uk | Подвоєна кіста стравоходу | |
| zh | 食管重复囊肿 | |
| tr | Özofagus duplikasyon kisti |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q39.8 | NTBT | attributed | validated |
| ICD-11 | LB12.Y | NTBT | index | validated |
| MONDO | 0015050 | E | validated | |
| UMLS | C4303524 | 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:91357Duplication of the esophagus
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/100047
- This record as JSON: /data/d/100047.json