Isolated multiple intestinal atresia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated multiple intestinal atresia | |
| fr | Atrésies multiples isolées de l'intestin | Polyatrésie intestinale |
| de | Isolierte multiple intestinale Atresie | Polyatresie, intestinale |
| es | Atresia intestinal múltiple aislada | |
| it | Atresia intestinale multipla isolata | |
| nl | Geïsoleerde multipele intestinale atresie | Geïsoleerde meervoudige darmatresie |
| pt | Atresia intestinal múltipla | Síndrome de poliatresia intestinal familiar |
| pl | Izolowana wieloodcinkowa atrezja jelit | Zespół rodzinnej wieloodcinkowej atrezji jelit · Wieloodcinkowa atrezja jelit |
| cs | Mnohočetné střevní atrézie | Syndrom familiární střevní polyatrézie |
| uk | Множинна атрезія кишечника | Синдром сімейної кишкової поліатрезії |
| zh | 多发性肠闭锁 | 家族性肠息肉综合征 |
| tr | Çoklu bağırsak atrezi | Ailesel bağırsak poliatrezi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q41.9 | NTBT | attributed | validated |
| ICD-11 | LB15.1 | NTBT | index | validated |
| MONDO | 0009465 | E | validated | |
| MeSH | C562441 | E | validated | |
| UMLS | C0220744 | E | validated | |
| GARD | 3013 | E | validated | |
| MedDRA | 10028210 | 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:108967Non-syndromic 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 |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 29437734[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 4.05 / 100 000 | Worldwide | Value and class | Validated | 29437734[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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100867 | Duodenal stenosis | |
| HP:0002589 | Gastrointestinal atresia | |
| Frequent (79-30%) | ||
| HP:0001561 | Polyhydramnios | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2300
- This record as JSON: /data/d/2300.json