Thoraco-abdominal enteric duplication
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy
- Status
- active
Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thoraco-abdominal enteric duplication | |
| fr | Duplication entérique thoraco-abdominale | |
| de | Thorakoabdominale enterale Duplikation | |
| es | Duplicación entérica toraco abdominal | |
| it | Duplicazione enterica toraco-addominale | |
| nl | Thoraco-abdominale enterische duplicatie | |
| pt | Duplicação entérica toraco-abdominal | |
| pl | Piersiowo-brzuszne zdwojenie jelit | |
| cs | Thorakoabdominální střevní duplikatura | |
| uk | Торако-абдомінальна ентеральна дуплікація | |
| zh | 胸腹小肠重复畸形 | |
| tr | Torako-abdominal enterik duplikasyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q43.4 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0015774 | E | validated | |
| UMLS | C4518084 | E | validated | |
| GARD | 5181 | 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:108969Syndromic intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Worldwide | Value and class | Validated | 34890978[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0001702 | Abnormal tricuspid valve morphology | |
| HP:0100555 | Asymmetric growth | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001651 | Dextrocardia | |
| HP:0100563 | Diastomatomyelia | |
| HP:0100867 | Duodenal stenosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0002566 | Intestinal malrotation | |
| HP:0002435 | Meningocele | |
| HP:0000921 | Missing ribs | |
| HP:0002093 | Respiratory insufficiency | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1759
- This record as JSON: /data/d/1759.json