ORPHA:90787
46,XY difference of sex development due to testicular steroidogenesis defect
Synonyms: 46,XY DSD due to testicular steroidogenesis defect · 46,XY disorder of sex development due to testicular steroidogenesis defect
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XY difference of sex development due to testicular steroidogenesis defect | 46,XY DSD due to testicular steroidogenesis defect · 46,XY disorder of sex development due to testicular steroidogenesis defect |
| fr | Différence du développement sexuel 46,XY par défaut de la stéroïdogenèse testiculaire | ADS 46,XY par défaut de la stéroïdogenèse testiculaire · Anomalie du développement sexuel 46,XY par défaut de la stéroïdogenèse testiculaire · DSD 46,XY par défaut de la stéroïdogenèse testiculaire |
| de | 46,XY-DSD durch testikulären Steroidogenese-Defekt | Störung der Geschlechtsentwicklung 46,XY durch testikulären Steroidogenese-Defekt |
| es | Desarrollo sexual diferente 46,XY por un defecto en la esteroidogénesis testicular | DSD 46,XY por un defecto en la esteroidogénesis testicular · Trastorno del desarrollo sexual 46,XY por un defecto en la esteroidogénesis testicular |
| it | Disturbo dello sviluppo sessuale 46,XY da difetto nella steroidogenesi testicolare | DSD 46,XY da difetto nella steroidogenesi testicolare |
| nl | 46,XY-geslachtsontwikkelingsstoornis door defect van testiculaire steroïdogenese | 46,XY-DSD door defect van testiculaire steroïdogenese |
| pt | Doença do desenvolvimento sexual 46,XY por deficiência enzimática afetando sobretudo a biossíntese de testosterona testicular | |
| pl | Zaburzenie różnicowania płci z kariotypem 46,XY spowodowane zaburzeniem steroidogenezy w jądrach | 46,XY DSD spowodowane zaburzeniem steroidogenezy w jądrach |
| cs | 46,XY porucha pohlavního vývoje způsobená poruchou testikulární steroidogeneze | 46,XY DSD způsobená poruchou testikulární steroidogeneze |
| uk | 46,XY порушення статевої диференціації внаслідок дефекту стероїдогенезу яєчок | 46,XY порушення статевого розвитку внаслідок дефекту стероїдогенезу яєчок · 46,XY ПСР внаслідок дефекту стероїдогенезу яєчок |
| zh | 睾丸类固醇生成缺陷所致男性假两性畸形 | 睾丸类固醇生成缺陷所致男性假两性畸形 |
| tr | Testiküler steroidogenez kusuruna bağlı 46,XY cinsiyet gelişim bozukluğu | Testiküler steroidogenez defektine bağlı 46, XY DSD |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680186 | 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:9078346,XY difference of sex development due to a testosterone synthesis defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare transplant-related disorders - ORPHA:32563246,XY difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
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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/90787
- This record as JSON: /data/d/90787.json