ORPHA:1201
Small bowel atresia
Synonyms: Atresia of small bowel · Atresia of small intestine · Jejunal atresia · Jejunoileal atresia · SBA · Small intestinal atresia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable, Unknown
- Age of onset
- Antenatal
- Status
- active
A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Small bowel atresia | Atresia of small bowel · Atresia of small intestine · Jejunal atresia · Jejunoileal atresia · SBA · Small intestinal atresia |
| fr | Atrésie de l'intestin grêle | Atrésie du jéjunum · Atrésie intestinale iléale · Atrésie jéjunale · Atrésie jéjuno-iléale |
| de | Dünndarmatresie | Apfelschalen-Syndrom · Dünndarmatresie Typ IIIb · Jejunalatresie · Jejunoileale Atresie · SBA |
| es | Atresia de intestino delgado | Atresia yeyunal · Atresia yeyunoileal |
| it | Atresia dell'intestino tenue | SBA · Sindrome "apple peel" · Sindrome "buccia di mela" · Atresia del digiuno · Atresia del piccolo intestino · Atresia dellintestino tenue · Atresia digiuno-ileale |
| nl | Atresie van dunne darm | Atresie van intestinum tenue · Atresie van jejunum · Atresie van nuchtere darm · Jejuno-ileale atresie · Jejunumatresie · SBA |
| pt | Atresia do intestino delgado | Atresia do jejuno · Atresia jejuno-ileal · SBA |
| pl | Atrezja jelita cienkiego | Atrezja jelita czczego · Zespół "ogryzka jabłka · Atrezja jelita czczego i esicy · Atrezja jelita typu IIIb |
| cs | Atrézie tenkého střeva | Atrézie jejuna · Atrézie jejuna a ilea · Atrézie intestinální · Syndrom jablečné slupky · Střevní atrézie, typ IIIb |
| uk | Атрезія тонкої кишки | Атрезія тонкої кишки · Атрезія тонкої кишки · Атрезія худої кишки · Атрезія яєчників · SBA · Атрезія тонкої кишки |
| zh | 小肠闭锁 | 肠闭锁IIIb型 |
| tr | İnce bağırsak atrezisi | Jejunal atrezi · Elma kabuğu sendromu · Jejunoileal atrezi · İnce bağırsak atrezisi · Bağırsak atrezisi tip IIIb |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243600 | E | validated | |
| ICD-10 | Q41.0 | BTNT | specific | validated |
| ICD-10 | Q41.1 | BTNT | specific | validated |
| ICD-10 | Q41.2 | BTNT | specific | validated |
| ICD-10 | Q41.8 | BTNT | specific | validated |
| ICD-10 | Q41.9 | BTNT | specific | validated |
| ICD-11 | LB15.1 | E | specific | validated |
| MONDO | 0009476 | E | validated | |
| MeSH | C538260 | E | validated | |
| UMLS | C0266172 | E | validated | |
| GARD | 140 | E | validated | |
| MedDRA | 10010626 | 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 (2):
- ORPHA:108967Non-syndromic intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:365563Primary short bowel syndrome
rare gastroenterological diseases; rare genetic 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
15 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 9 / 100 000 | Europe | Value and class | Validated | 229330959[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 9 / 100 000 | Spain | Value and class | Validated | 2293309[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 11 / 100 000 | Ireland | Value and class | Validated | 2293309[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | Portugal | Value and class | Validated | 2293309[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 14.5 / 100 000 | Italy | Value and class | Validated | 2293309[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 22 / 100 000 | Reunion | Value and class | Validated | 2293309[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 9 / 100 000 | Switzerland | Value and class | Validated | 2293309[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | Austria | Value and class | Validated | 2293309[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 14 / 100 000 | Germany | Value and class | Validated | 2293309[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 19 / 100 000 | Denmark | Value and class | Validated | 2293309[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 12 / 100 000 | Malta | Value and class | Validated | 2293309[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 18 / 100 000 | France | Value and class | Validated | 2293309[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 18 / 100 000 | United Kingdom | Value and class | Validated | 2293309[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 15 / 100 000 | Belgium | Value and class | Validated | 2293309[PMID] |
| Point prevalence | Unknown | — | Europe | 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.
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HPO phenotypes
10 annotations · validated 2019-04-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005245 | Intestinal hypoplasia | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0025015 | Abnormal vascular morphology | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002566 | Intestinal malrotation | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0005235 | Jejunal atresia | |
| HP:0004322 | Short stature | |
| HP:0002013 | Vomiting | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 10594884[PMID]_5681166[PMID]_5907010[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1201
- This record as JSON: /data/d/1201.json