Atresia of urethra
Synonyms: Urethral atresia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting <i>in utero</i> as megacystis, oligohydramnios or anhydramnios, and potter sequence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atresia of urethra | Urethral atresia |
| fr | Atrésie de l'urètre | Atrésie uréthrale |
| de | Atresie der Urethra | |
| es | Atresia uretral | Atresia de la uretra |
| it | Atresia dell'uretra | Atresia ureterale |
| nl | Atresie van urethra | Urethrale atresie |
| pt | Atresia da uretra | |
| pl | Atrezja cewki moczowej | = en |
| cs | Atrézie uretry | Uretrální atrézie |
| uk | Атрезія уретри | Атрезія уретри |
| zh | 尿道闭锁 | 尿道闭锁 |
| tr | Üretra atrezisi | Üretral atrezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q64.3 | E | specific | validated |
| ICD-11 | LB31.2 | NTBT | index | validated |
| MONDO | 0015195 | E | validated | |
| UMLS | C0345345 | E | validated | |
| MedDRA | 10064895 | 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:435365Fetal lower urinary tract obstruction
rare developmental anomalies during embryogenesis; rare genetic diseases; 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 | Unknown | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | 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.
HPO phenotypes
14 annotations · validated 2021-01-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000083 | Renal insufficiency | |
| HP:0000076 | Vesicoureteral reflux | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0004321 | Bladder fistula | |
| HP:0010955 | Dilatation of the bladder | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0000021 | Megacystis | |
| HP:0001562 | Oligohydramnios | |
| HP:0010479 | Patent urachus | |
| HP:0000010 | Recurrent urinary tract infections | |
| Occasional (29-5%) | ||
| HP:0001541 | Ascites | |
| HP:0010444 | Pulmonary insufficiency | |
| HP:0000110 | Renal dysplasia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 19551712[PMID]_32978001[PMID]_29980359[PMID]_8149156[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/105
- This record as JSON: /data/d/105.json