ORPHA:237
Duplication of urethra
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Duplication of urethra | |
| fr | Duplication de l'urètre | |
| de | Urethra-Duplikation | |
| es | Duplicación de la uretra | |
| it | Duplicazione dell'uretra | |
| nl | Duplicatie van urethra | Duplicatie van urinebuis |
| pt | Duplicação da uretra | |
| pl | Zdwojenie cewki moczowej | |
| cs | Duplikace uretry | |
| uk | Дублювання уретри | |
| zh | 重复尿道 | |
| tr | Üretra duplikasyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q64.7 | NTBT | inclusion | validated |
| ICD-11 | LB31.5 | E | specific | validated |
| MONDO | 0016529 | E | validated | |
| UMLS | C0266348 | E | validated | |
| GARD | 1975 | 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 (3):
- ORPHA:357506Genetic non-syndromic renal or urinary tract malformation
rare genetic diseases - ORPHA:93546Non-syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders - ORPHA:182124Non-syndromic urogenital tract malformation of male and female
rare developmental anomalies during embryogenesis; rare urogenital 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 19231292[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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.
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HPO phenotypes
26 annotations · validated 2021-01-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012732 | Anorectal anomaly | |
| HP:0000039 | Epispadias | |
| HP:0000047 | Hypospadias | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0002023 | Anal atresia | |
| HP:0010447 | Anal fistula | |
| HP:0100519 | Anuria | |
| HP:0000048 | Bifid scrotum | |
| HP:0025489 | Bladder duplication | |
| HP:0000041 | Chordee | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0008743 | Coronal hypospadias | |
| HP:0008706 | Distal urethral duplication | |
| HP:0100518 | Dysuria | |
| HP:0001543 | Gastroschisis | |
| HP:0000054 | Micropenis | |
| HP:0012531 | Pain | |
| HP:0003244 | Penile hypospadias | |
| HP:0025407 | Rectourethral fistula | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0001153 | Septate vagina | |
| HP:0012583 | Unilateral renal hypoplasia | |
| HP:0012227 | Urethral stricture | |
| HP:0008635 | Urinary bladder wall hypertrophy | |
| HP:0000020 | Urinary incontinence | |
| HP:0003762 | Uterus didelphys | |
Annotation source: 27887914[PMID]_32063365[PMID]_32015628[PMID]_31571759[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/237
- This record as JSON: /data/d/237.json