ORPHA:325357
46,XY difference of sex development due to impaired androgen production
Synonyms: 46,XY DSD due to impaired androgen production · 46,XY disorder of sex development due to impaired androgen production
- 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 impaired androgen production | 46,XY DSD due to impaired androgen production · 46,XY disorder of sex development due to impaired androgen production |
| fr | Différence du développement sexuel 46,XY par défaut de production d'androgènes | ADS 46,XY par défaut de production d'androgènes · Anomalie du développement sexuel 46,XY par défaut de production d'androgènes · DSD 46,XY par défaut de production d'androgènes |
| de | Störung der Geschlechtsentwicklung 46,XY, bei gestörter Androgenproduktion | 46,XY-DSD durch Störung der Androgenproduktion |
| es | Desarrollo sexual diferente 46,XY por una alteración en la producción de andrógenos | DSD 46,XY por una alteración en la producción de andrógenos · Trastorno del desarrollo sexual 46,XY por una alteración en la producción de andrógenos |
| it | Disturbo dello sviluppo sessuale 46,XY da anomalie nella produzione di androgeni | DSD 46,XY da anomalie nella produzione di androgeni |
| nl | 46,XY-geslachtsontwikkelingsstoornis door verstoorde androgeenproductie | 46,XY-DSD door verstoorde androgeenproductie |
| pt | Doença do desenvolvimento sexual 46,XY devida à produção prejudicada de andrógenio | |
| pl | Zaburzenie różnicowania płci z kariotypem 46,XY z powodu upośledzonej produkcji androgenów | ZRP 46,XY z powodu upośledzonej produkcji androgenów |
| cs | 46,XY porucha pohlavního vývoje způsobená produkcí poškozeného androgenu | 46,XY DSD způsobená produkcí poškozeného androgenu |
| uk | 46,XY порушення статевої диференціації через порушення вироблення андрогенів | 46,XY порушення статевого розвитку через порушення вироблення андрогенів · 46,XY ПСР через порушення вироблення андрогенів |
| zh | 46，XY雄激素分泌障碍性发育障碍 | 46，XY雄激素分泌障碍性DSD |
| tr | Bozulmuş androjen üretimine bağlı 46,XY cinsiyet gelişim bozukluğu | Bozulmuş androjen üretimine bağlı 46, XY DSD |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17970 | E | validated | |
| UMLS | C5679870 | 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 (3):
- ORPHA:32535146,XY difference of sex development of endocrine origin
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare endocrine diseases - ORPHA:325713Genetic 46,XY difference of sex development of endocrine origin
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
Children (4):
- ORPHA:9808646,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
- ORPHA:9078346,XY difference of sex development due to a testosterone synthesis defect
- ORPHA:44309046,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
- ORPHA:755Leydig cell hypoplasia
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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/325357
- This record as JSON: /data/d/325357.json