Isolated rectal duplication
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated rectal duplication | |
| fr | Duplication rectale isolée | |
| de | Rektumduplikation, isolierte | |
| es | Duplicación rectal aislada | |
| it | Duplicazione rettale | |
| nl | Geïsoleerde rectale duplicatie | Geïsoleerde duplicatie van rectum |
| pt | Duplicação retal isolada | |
| pl | Zdwojenie odbytnicy | |
| cs | Cystická duplikatura rekta | |
| uk | Ректальне подвоєння | |
| zh | 直肠重复畸形 | |
| tr | Rektal duplikasyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q43.4 | NTBT | attributed | validated |
| ICD-11 | LB17.Y | NTBT | index | validated |
| MONDO | 0015734 | E | validated | |
| UMLS | C4511483 | 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:684757Malformation of the anal canal and the rectum
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/171220
- This record as JSON: /data/d/171220.json