ORPHA:180142
Absence of uterine body
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Absence of uterine body | |
| fr | Absence du corps de l'utérus | |
| de | Uterusagenesie oder -aplasie | |
| es | Ausencia del cuerpo uterino | |
| it | Agenesia e aplasia del corpo dell'utero | |
| nl | Afwezigheid van corpus uteri | Afwezigheid van baarmoederlichaam |
| pt | Agenesia e aplasia do corpo uterino | |
| pl | Agnezja i aplazja trzonu macicy | |
| cs | Ageneze a aplázie těla dělohy | |
| uk | Відсутність тіла матки | |
| zh | 子宫体缺失 | |
| tr | Uterin gövdesi yokluğu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q51.0 | E | specific | validated |
| ICD-11 | LB44.0 | E | specific | validated |
| MONDO | 0015844 | E | validated | |
| MONDO | 15844 | E | validated | |
| UMLS | C5230999 | 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.
5
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/180142
- This record as JSON: /data/d/180142.json