Congenital esophageal stenosis
Synonyms: CES · Congenital oesophageal stenosis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A rare non-syndromic esophageal malformation characterized by intrinsic narrowing of the esophagus, caused by congenital malformation of esophageal wall architecture present at birth. Patients manifest dysphagia and progressive vomiting. Esophageal food impaction, failure to thrive or respiratory distress can be present. Symptoms are often attributed to colic or reflux, thus diagnosis is often difficult.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital esophageal stenosis | CES · Congenital oesophageal stenosis |
| fr | Sténose congénitale de l'oesophage | Sténose oesophagienne congénitale |
| de | Ösophagusstenose, kongenitale | Angeborene Stenose der Speiseröhre · CES |
| es | Estenosis esofágica congénita | EEC |
| it | Stenosi congenita dellesofago | CES · Stenosi esofagea congenita |
| nl | Congenitale stenose van oesofagus | CES · Congenitale oesofageale stenose |
| pt | Estenose esofágica congénita | CES · Estenose congénita do esófago |
| pl | Wrodzone zwężenie przełyku | = en |
| cs | Vrozená stenóza jícnu | = en |
| uk | Вроджений стеноз стравоходу | CES · Вроджений стеноз стравоходу |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q39.3 | E | specific | validated |
| ICD-11 | LB12.3 | NTBT | index | validated |
| MONDO | 0957459 | E | validated | |
| UMLS | C1963580 | E | validated | |
| MedDRA | 10010564 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | United States | Value and class | Validated | 25789088[PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/645749
- This record as JSON: /data/d/645749.json