ORPHA:98086
46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
Synonyms: 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
- 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 defect in testosterone metabolism by peripheral tissue | 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue |
| fr | Différence du développement sexuel 46,XY associée à un défaut du métabolisme périphérique de testostérone | Anomalie du développement sexuel 46,XY associée à un défaut du métabolisme périphérique de testostérone |
| de | Störung der Geschlechtsentwicklung 46,XY, durch Defekt des Testosteron-Stoffwechsels im peripheren Gewebe | 46,XY-DSD durch Defekt des Testosteron-Stoffwechsels im peripheren Gewebe |
| es | Desarrollo sexual diferente 46, XY por un defecto del metabolismo periférico de la testosterona | DSD 46, XY por un defecto del metabolismo periférico de la testosterona · Trastorno del desarrollo sexual 46, XY por un defecto del metabolismo periférico de la testosterona |
| it | Disturbo dello sviluppo sessuale 46,XY da difetti del metabolismo periferico del testosterone | |
| nl | 46,XY-geslachtsontwikkelingsstoornis door defect van testosteronmetabolisme in perifeer weefsel | |
| pt | Doença do desenvolvimento sexual 46,XY por deficiência no metabolismo da testoterona do tecido periférico | |
| pl | Zaburzenie różnicowania płci o kariotypie 46,XY z powodu defektu w metaboliźmie testosteronu w tkankach obwodowych | = en |
| cs | 46,XY porucha sexuálního vývoje způsobená defektem testosteronového metabolismu v periferní tkáni | = en |
| uk | 46,XY порушення статевої диференціації внаслідок дефекту метаболізму тестостерону в периферичних тканинах | 46,XY порушення статевого розвитку внаслідок дефекту метаболізму тестостерону периферичними тканинами |
| zh | 外周组织睾酮代谢缺陷所致46,XY性发育异常 | |
| tr | Periferik dokuda testosteron metabolizmasındaki kusura bağlı 46,XY cinsiyet gelişim bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5816696 | 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: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 - 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.
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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/98086
- This record as JSON: /data/d/98086.json