ORPHA:660
Omphalocele
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal
- Status
- active
A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Omphalocele | |
| fr | Omphalocèle | |
| de | Omphalozele | |
| es | Onfalocele | |
| it | Onfalocele | |
| nl | Omfalocele | |
| pt | Onfalocelo | |
| pl | Przepuklina pępowinowa | |
| cs | Omfalokéla | |
| uk | Омфалоцеле | |
| zh | 脐膨出 | |
| tr | Omfalosel |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164750 | BTNT | validated | |
| OMIM | 310980 | BTNT | validated | |
| ICD-10 | Q79.2 | NTBT | attributed | validated |
| ICD-11 | LB01 | E | specific | validated |
| MONDO | 0019015 | E | validated | |
| MeSH | D006554 | E | validated | |
| UMLS | C0795690 | E | validated | |
| MedDRA | 10030308 | 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 (1):
- ORPHA:108977Non-syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
43 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 11.7 / 100 000 | Europe | Value and class | Validated | [EXPERT]_EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | [EXPERT]_EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 19.6 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Austria | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 14.6 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Belgium | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 10.9 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Croatia | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 19.8 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Denmark | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 13.6 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | France | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.6 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Germany | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6.6 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Hungary | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 25.3 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Ireland | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Italy | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 48.2 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Malta | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 22.9 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Netherlands | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.2 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Norway | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 12.1 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Poland | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6.9 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Spain | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 12.3 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Switzerland | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.6 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | United Kingdom | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 16.2 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Ukraine | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | Czech Republic | Value and class | Validated | 23116348[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Czech Republic | Class only | Not yet validated | 23116348[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.3 / 100 000 | Japan | Value and class | Validated | 10646777[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Japan | Class only | Not yet validated | 10646777[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 15.2 / 100 000 | China | Value and class | Validated | 15498248[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 18.6 / 100 000 | United States | Value and class | Validated | Center for Diseases Control and Prevention 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | United States | Class only | Validated | Center for Diseases Control and Prevention 2010[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
8 annotations · validated 2023-07-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011432 | Elevated maternal circulating alpha-fetoprotein concentration | |
| HP:0001539 | Omphalocele | |
| HP:0001622 | Premature birth | |
| Frequent (79-30%) | ||
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002091 | Restrictive ventilatory defect | |
| Occasional (29-5%) | ||
| HP:0001531 | Failure to thrive in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30085552[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/660
- This record as JSON: /data/d/660.json