ORPHA:3405
Umbilical cord ulceration-intestinal atresia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal
- Status
- active
A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Umbilical cord ulceration-intestinal atresia syndrome | |
| fr | Syndrome d'ulcération du cordon ombilical-atrésie intestinale | |
| de | Nabelschnur-Ulzera-Darmatresie-Syndrom | |
| es | Síndrome de ulceración del cordón umbilical-atresia intestinal | |
| it | Ulcerazione del cordone ombelicale e atresia intestinale | |
| nl | Navelstrengulceratie - intestinale atresie-syndroom | |
| pt | Síndrome de úlcera do cordão umbilical-atresia intestinal | |
| pl | Owrzodzenie pępowiny - atrezja jelit | |
| cs | Syndrom zahrnující ulcerace pupeční šňůry a intestinální atrézii | |
| uk | Синдром виразки пуповини-кишкової атрезії | |
| zh | 脐带溃疡-肠道闭锁综合征 | |
| tr | Göbek kordonu ülseri-intestinal atrezi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q43.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0018085 | E | validated | |
| MeSH | C536938 | E | validated | |
| UMLS | C4304396 | E | validated | |
| GARD | 5403 | 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:108969Syndromic 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 66 cases | Worldwide | Case(s) | Validated | [EXPERT]_20881370[PMID]_29516584[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
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
9 annotations · validated 2017-11-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001903 | Anemia | |
| HP:0002247 | Duodenal atresia | |
| HP:0001561 | Polyhydramnios | |
| Frequent (79-30%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0001702 | Abnormal tricuspid valve morphology | |
| HP:0011100 | Intestinal atresia | |
| HP:0001195 | Single umbilical artery | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0001789 | Hydrops fetalis | |
Run the differential on the 3 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3405
- This record as JSON: /data/d/3405.json