ORPHA:98085
46,XY difference of sex development
Synonyms: 46,XY DSD · 46,XY disorder of sex development
- 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 | 46,XY DSD · 46,XY disorder of sex development |
| fr | Différence du développement sexuel 46,XY | 46,XY DSD · ADS 46,XY · Anomalie du développement sexuel 46,XY |
| de | Störung der Geschlechtsentwicklung 46,XY | 46,XY-DSD |
| es | Desarrollo sexual diferente 46,XY | DSD 46,XY · Trastorno del desarrollo sexual 46,XY |
| it | Disturbo dello sviluppo sessuale 46,XY | DSD 46,XY |
| nl | 46,XY-geslachtsontwikkelingsstoornis | 46,XY-DSD |
| pt | Doença do desenvolvimento sexual 46,XY | |
| pl | Zaburzenie różnicowania płci o kariotypie 46,XY | 46,XY ZRP |
| cs | 46,XY porucha sexuálního vývoje | 46,XY DSD |
| uk | 46,XY порушення статевої диференціації | 46,XY порушення статевого розвитку · 46,XY ПСР |
| zh | 46,XY性发育异常 | 46,XY DSD |
| tr | 46, XY cinsiyet gelişim bozukluğu | 46, XY DSD |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020040 | E | validated | |
| MeSH | D058490 | E | validated | |
| UMLS | C2751824 | E | validated | |
| GARD | 8538 | 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:90771Difference of sex development
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare endocrine diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.06 / 100 000 | Denmark | Value and class | Validated | 27603905[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.4 / 100 000 | Denmark | Value and class | Validated | 27603905[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/98085
- This record as JSON: /data/d/98085.json