ORPHA:325511
46,XY difference of sex development due to a cholesterol synthesis defect
Synonyms: 46,XY DSD due to a cholesterol synthesis defect · 46,XY disorder of sex development due to a cholesterol 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 cholesterol synthesis defect | 46,XY DSD due to a cholesterol synthesis defect · 46,XY disorder of sex development due to a cholesterol synthesis defect |
| fr | Différence du développement sexuel 46,XY par défaut de synthèse du cholestérol | ADS 46,XY par défaut de synthèse du cholestérol · Anomalie du développement sexuel 46,XY par défaut de synthèse du cholestérol · DSD 46,XY par défaut de synthèse du cholestérol |
| de | Störung der Geschlechtsentwicklung 46,XY, durch Cholesterol-Synthese-Defekt | 46,XY DSD durch Cholesterol-Synthese-Defekt |
| es | Desarrollo sexual diferente 46,XY por un defecto de la síntesis del colesterol | DSD 46,XY por un defecto de la síntesis del colesterol · Trastarno del desarrollo sexual 46,XY por un defecto de la síntesis del colesterol |
| it | Disturbo dello sviluppo sessuale 46,XY da difetto della sintesi del colesterolo | DSD 46,XY da difetto della sintesi del colesterolo |
| nl | 46,XY-geslachtsontwikkelingsstoornis door defect van cholesterolsynthese | 46,XY-DSD door defect van cholesterolsynthese |
| pt | Doença do desenvolvimento sexual 46,XY devida a defeito de síntese de colesterol | |
| pl | Zaburzenie różnicowania płci z kariotypem 46,XY z powodu defektu syntezy cholesterolu | ZRP 46,XY z powodu defektu syntezy cholesterolu |
| cs | 46,XY porucha pohlavního vývoje způsobená poruchou cholesterol syntázy | 46,XY DSD způsobená poruchou cholesterol syntázy |
| uk | 46,XY порушення статевої диференціації, зумовлене дефектом синтезу холестерину | 46,XY порушення статевого розвитку через дефект синтезу холестерину · 46,XY ПСР через дефект синтезу холестерину |
| zh | 胆固醇合成缺陷所致性发育障碍 | 46，XY胆固醇合成缺陷所致DSD |
| tr | Kolesterol sentez kusuruna bağlı 46,XY cinsiyet gelişim bozukluğu | Kolesterol sentez defektine bağlı 46,XY DSD |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17971 | E | validated | |
| UMLS | C5679868 | 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: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
Children (1):
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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/325511
- This record as JSON: /data/d/325511.json