ORPHA:1203
Duodenal atresia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Duodenal atresia | |
| fr | Atrésie du duodénum | Atrésie duodénale |
| de | Duodenalatresie | |
| es | Atresia duodenal | |
| it | Atresia duodenale | |
| nl | Duodenumatresie | |
| pt | Atresia duodenal | |
| pl | Atrezja dwunastnicy | |
| cs | Atrézie duodena | |
| uk | Атрезія дванадцятипалої кишки | |
| zh | 十二指肠闭锁 | |
| tr | Duodenal atrezi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 223400 | E | validated | |
| ICD-10 | Q41.0 | NTBT | inclusion | validated |
| ICD-11 | LB14 | NTBT | index | validated |
| MONDO | 0009126 | E | validated | |
| MeSH | C535720 | E | validated | |
| UMLS | C0266174 | E | validated | |
| GARD | 54 | E | validated | |
| MedDRA | 10013812 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:108963Non-syndromic gastroduodenal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases - ORPHA:108967Non-syndromic intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
28 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 9 / 100 000 | Europe | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-9 / 100 000 | 9 / 100 000 | Europe | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9 / 100 000 | Belgium | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Belgium | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | Spain | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Spain | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6 / 100 000 | Ireland | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Ireland | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7 / 100 000 | Italy | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Italy | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11 / 100 000 | United Kingdom | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | United Kingdom | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Malta | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Malta | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9 / 100 000 | Denmark | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Denmark | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11 / 100 000 | France | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | France | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7 / 100 000 | Reunion | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Reunion | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Portugal | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Portugal | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9 / 100 000 | Germany | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Germany | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Austria | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Austria | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Switzerland | Value and class | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Switzerland | Class only | Validated | 22933095[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
16 annotations · validated 2024-06-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002247 | Duodenal atresia | |
| HP:0001561 | Polyhydramnios | |
| Frequent (79-30%) | ||
| HP:0001622 | Premature birth | |
| HP:0025656 | Prenatal double bubble sign | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0001734 | Annular pancreas | |
| HP:0034754 | Bilious emesis | |
| HP:0001944 | Dehydration | |
| HP:0001508 | Failure to thrive | |
| HP:0004909 | Hypokalemic hypochloremic metabolic alkalosis | |
| HP:0030145 | Lack of bowel sounds | |
| HP:0002587 | Projectile vomiting | |
| HP:0001824 | Weight loss | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 15185215[PMID]_29261981[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1203
- This record as JSON: /data/d/1203.json