Isolated partial vaginal agenesis
Synonyms: Congenital absence of vagina
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated partial vaginal agenesis | Congenital absence of vagina |
| fr | Agénésie vaginale isolée partielle | Absence congénitale du vagin |
| de | Vaginalagenesie, isolierte partielle | Vaginalaplasie · Vaginalaplasie, kongenitale |
| es | Agenesia vaginal parcial aislada | Ausencia congénita de vagina |
| it | Agenesia parziale isolata della vagina | Assenza congenita della vagina · Assenza della vagina |
| nl | Geïsoleerde partiële agenesie van vagina | Congenitale afwezigheid van vagina · Geïsoleerde partiële vaginale agenesie · Afwezigheid van vagina |
| pt | Agenesia vaginal | |
| pl | Izolowana częściowa agnezja pochwy | Brak pochwy · Wrodzony brak pochwy |
| cs | Izolovaná částečná ageneze pochvy | Vrozené chybění pochvy |
| uk | Ізольована часткова вагінальна агенезія | Вроджена відсутність піхви |
| zh | 孤立型部分阴道发育不全 | 先天性阴道缺失 |
| tr | İzole kısmi vajinal agenezi | Doğumsal vajina yokluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q52.0 | NTBT | attributed | validated |
| ICD-11 | LB42.0 | E | specific | validated |
| MONDO | 0019932 | E | validated | |
| UMLS | C1261251 | 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:180151Rare vaginal malformation
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare infertility disorders; rare gynecological and obstetric diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Worldwide | Value and class | Validated | 33244332[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96269
- This record as JSON: /data/d/96269.json