ORPHA:1198
Colonic atresia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Colonic atresia | |
| fr | Atrésie du côlon | Atrésie colique |
| de | Dickdarmatresie | Kolonatresie |
| es | Atresia de colon | |
| it | Atresia del colon | |
| nl | Colonatresie | |
| pt | Atresia do cólon | |
| pl | Atrezja okrężnicy | |
| cs | Atrézie tračníku | |
| uk | Атрезія товстої кишки | |
| zh | 结肠闭锁 | |
| tr | Kolon atrezisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 303650 | E | validated | |
| ICD-10 | Q42.9 | NTBT | attributed | validated |
| ICD-11 | LB16.0 | E | specific | validated |
| MONDO | 0010562 | E | validated | |
| MeSH | C562562 | E | validated | |
| UMLS | C0266190 | E | validated | |
| GARD | 1446 | 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:108967Non-syndromic intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Worldwide | Value and class | Validated | 31891361[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.5 / 100 000 | United Kingdom | Value and class | Validated | 2342005[PMID] |
| Prevalence at birth | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET_2342005[PMID]_16080929[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010448 | Colonic atresia | |
| HP:0004398 | Peptic ulcer | |
| Frequent (79-30%) | ||
| HP:0100016 | Abnormality of mesentery morphology | |
| HP:0100867 | Duodenal stenosis | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0003363 | Abdominal situs inversus | |
| HP:0001543 | Gastroschisis | |
| HP:0001539 | Omphalocele | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1198
- This record as JSON: /data/d/1198.json