Congenital agenesis of the scrotum
Synonyms: Congenital absence of the scrotum · Congenital scrotal absence · Congenital scrotal agenesis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital agenesis of the scrotum | Congenital absence of the scrotum · Congenital scrotal absence · Congenital scrotal agenesis |
| fr | Agénésie congénitale du scrotum | Absence congénitale du scrotum · Agénésie scrotale congénitale |
| de | Skrotum, kongenitale Agenesie des | Hodensack, fehlender · Skrotale Agenesie, kongenitale · Skrotum, kongenitales Fehlen des |
| es | Agenesia congénita del escroto | Agenesia escrotal congénita · Ausencia congénita del escroto · Ausencia escrotal congénita |
| it | Agenesia congenita dello scroto | |
| nl | Congenitale agenesie van scrotum | Congenitale afwezigheid van scrotum · Congenitale agenesie van balzak · Congenitale scrotale afwezigheid · Congenitale scrotale agenesie |
| pt | Agenesia congénita do escroto | |
| pl | Agenezja wrodzona moszny | Wrodzony brak moszny |
| cs | Vrozená ageneze skrota | Congenital scrotal absence · Congenital scrotal agenesis · Congenital absence of the scrotum · Vrozená absence šourku · Vrozená skrotální ageneze · Vrozená absence skrota |
| uk | Вроджена агенезія мошонки | Вроджена відсутність мошонки · Вроджена відсутність мошонки · Вроджена аномалія розвитку мошонки |
| zh | 先天性阴囊发育不全 | Congenital scrotal agenesis |
| tr | Skrotumun doğumsal agenezisi | Doğumsal skrotal yokluğu · Doğumsal skrotal agenezi · Skrotumun doğumsal yokluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q55.2 | NTBT | index | validated |
| MONDO | 0044644 | E | validated | |
| UMLS | C1387020 | 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:182121Non-syndromic urogenital tract malformation of male
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 23374822[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23374822[PMID] |
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/495879
- This record as JSON: /data/d/495879.json