ORPHA:180145
Uterine cervical aplasia and agenesis
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Uterine cervical aplasia and agenesis | |
| fr | Agénésie et aplasie du col de l'utérus | |
| de | Cervix uteri, Agenesie oder Aplasie | |
| es | Agenesia y aplasia de cuello de útero | |
| it | Disgenesia e aplasia della cervice uterina | |
| nl | Agenesie en aplasie van cervix uteri | Agenesie en aplasie van baarmoederhals |
| pt | Aplasia e agenesia cervical uterina | |
| pl | Aplazja i agnezja szyjki macicy | |
| cs | Aplázie a ageneze hrdla děložního | |
| uk | Аплазія та агенезія шийки матки | |
| zh | 子宫宫颈发育不全 | |
| tr | Uterin servikal aplazi ve agenezisi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q51.5 | E | specific | validated |
| ICD-11 | LB43.1 | E | specific | validated |
| MONDO | 0015845 | E | validated | |
| UMLS | C5190813 | 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 (2):
- ORPHA:180065Non-syndromic uterovaginal malformation
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare gynecological and obstetric diseases; rare transplant-related disorders - ORPHA:399882Rare female infertility due to an implantation defect
rare infertility disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/180145
- This record as JSON: /data/d/180145.json