Vaginal atresia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
A rare vaginal malformation characterized by congenital uterovaginal outflow tract obstruction due to failure of the urogenital sinus to form the caudal aspect of the vagina, which is then replaced by fibrous tissue. The malformation may occur as an isolated developmental defect or in association with other anomalies, such as cervical agenesis, imperforate hymen, and bicornuate bicervical uterus. Presenting signs and symptoms include primary amenorrhea, cyclic pelvic pain, abdominal pain, dyspareunia, pelvic mass, menstrual disorder, and periodic fever.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vaginal atresia | |
| fr | Atrésie du vagin | Atrésie vaginale |
| de | Vaginalatresie | |
| es | Atresia vaginal | |
| it | Atresia vaginale | |
| nl | Vaginale atresie | |
| pt | Atresia da vagina | |
| pl | Atrezja pochwy | |
| cs | Atrezie pochvy | |
| uk | Атрезія піхви | |
| zh | 阴道闭锁 | |
| tr | Vajinal atrezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q52.0 | NTBT | attributed | validated |
| ICD-11 | LB42.5 | E | specific | validated |
| MONDO | 0019007 | E | validated | |
| UMLS | C1321884 | E | validated | |
| MedDRA | 10046879 | 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 | 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
12 annotations · validated 2021-09-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000148 | Vaginal atresia | |
| Frequent (79-30%) | ||
| HP:0031500 | Abdominal mass | |
| HP:0002027 | Abdominal pain | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0030011 | Imperforate hymen | |
| HP:0031501 | Pelvic mass | |
| HP:0000786 | Primary amenorrhea | |
| Occasional (29-5%) | ||
| HP:0030160 | Cervicitis | |
| HP:0003762 | Uterus didelphys | |
| HP:0100674 | Vaginal hematocele | |
| Very rare (<4-1%) | ||
| HP:0000813 | Bicornuate uterus | |
| HP:0000145 | Transverse vaginal septum | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 28915489[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65681
- This record as JSON: /data/d/65681.json