ORPHA:90783
46,XY difference of sex development due to a testosterone synthesis defect
Synonyms: 46,XY DSD due to a testosterone synthesis defect · 46,XY disorder of sex development due to a testosterone synthesis 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 a testosterone synthesis defect | 46,XY DSD due to a testosterone synthesis defect · 46,XY disorder of sex development due to a testosterone synthesis defect |
| fr | Différence du développement sexuel 46,XY par défaut de synthèse de testostérone | ADS 46,XY par défaut de synthèse de testostérone · Anomalie du développement sexuel 46,XY par défaut de synthèse de testostérone · DSD 46,XY par défaut de synthèse de testostérone |
| de | 46,XY-DSD durch Testosteron-Synthese-Defekt | Störung der Geschlechtsentwicklung 46,XY durch Störung der Testosteron-Biosynthese |
| es | Desarrollo sexual diferente 46,XY por un defecto en la síntesis de la testosterona | DSD 46,XY por un defecto en la síntesis de la testosterona · Trastorno del desarrollo sexual 46,XY por un defecto en la síntesis de la testosterona |
| it | Disturbo dello sviluppo sessuale 46,XY da eccesso nella sintesi del testosterone | DSD 46,XY da difetto nella sintesi del testosterone |
| nl | 46,XY-geslachtsontwikkelingsstoornis door defect van testosteronsynthese | 46,XY-DSD door defect van testosteronsynthese |
| pt | Doença do desenvolvimento sexual 46,XY por erro inato da biossíntese da testosterona | |
| pl | Zaburzenie różnicowania płci z kariotypem 46,XY spowodowane zaburzeniem syntezy testosteronu | 46,XY DSD spowodowane zaburzeniem syntezy testosteronu |
| cs | 46,XY porucha pohlavního vývoje způsobená poruchou syntézy testosteronu | 46,XY DSD způsobená poruchou syntézy testosteronu |
| uk | 46,XY порушення статевої диференціації через дефект синтезу тестостерону | 46,XY порушення статевого розвитку внаслідок дефекту синтезу тестостерону · 46,XY ПСР через дефект синтезу тестостерону |
| zh | 睾酮合成缺陷所致男性假两性畸形 | 睾酮合成缺陷所致男性假两性畸形 |
| tr | Testosteron sentez kusuruna bağlı 46,XY cinsiyet gelişim bozukluğu | Testosteron sentez defektine bağlı 46, XY DSD |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680188 | 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 (1):
- ORPHA:32535746,XY difference of sex development due to impaired androgen production
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare transplant-related disorders
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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/90783
- This record as JSON: /data/d/90783.json