Patent urachus
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Patent urachus | |
| fr | Fistule de l'ouraque | |
| de | Offener Urachus | Offener Ductus Urachus |
| es | Uraco persistente | |
| it | Pervietà dell'uraco | |
| nl | Persisterende urachus | |
| pt | Úraco permeável | |
| pl | Przetrwały moczownik | |
| cs | Urachus patens | |
| uk | Відкритий урахус | |
| zh | 开放性脐尿管 | |
| tr | Patent urakus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q64.4 | NTBT | inclusion | validated |
| ICD-11 | LB03.0 | NTBT | index | validated |
| MONDO | 0018551 | E | validated | |
| UMLS | C0266357 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:435743Congenital urachal anomaly
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.75 / 100 000 | United States | Value and class | Validated | 3404578[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
10 annotations · validated 2023-09-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010881 | Abnormality of the umbilical cord | |
| HP:0010479 | Patent urachus | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0100645 | Cystocele | |
| HP:0034267 | Pelvic pain | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0012618 | Urachal cyst | |
| Occasional (29-5%) | ||
| HP:0010957 | Congenital posterior urethral valve | |
| HP:0032435 | Neonatal omphalitis | |
| HP:0005420 | Recurrent gram-negative bacterial infections | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 32491655[PMID]_36363578[PMID]_33421441[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/431341
- This record as JSON: /data/d/431341.json