ORPHA:100048
Isolated tubular duplication of the esophagus
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated tubular duplication of the esophagus | |
| fr | Duplication tubulaire de l'oesophage isolée | |
| de | Isolierte tubuläre Ösophagus-Duplikation | |
| es | Duplicación tubular aislada del esófago | |
| it | Duplicazione tubulare dell'esofago | |
| nl | Geïsoleerde tubulaire duplicatie van oesofagus | |
| pt | Duplicação tubular do esófago isolado | |
| pl | Tubularne zdwojenie przełyku | |
| cs | Tubulární duplikace jícnu | |
| uk | Трубчасте подвоєння стравоходу | |
| zh | 食管管状重复畸形 | |
| tr | Yemek borusunun tübüler duplikasyonu |
Definition in:
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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 | 0015051 | E | validated | |
| UMLS | C4274729 | 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:91357Duplication of the esophagus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/100048
- This record as JSON: /data/d/100048.json