ORPHA:325109
Syndrome with 46,XX difference of sex development
Synonyms: Syndrome with 46,XX DSD · Syndrome with 46,XX 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 | Syndrome with 46,XX difference of sex development | Syndrome with 46,XX DSD · Syndrome with 46,XX disorder of sex development |
| fr | Syndrome avec une différence du développement sexuel 46,XX | Syndrome avec une anomalie du développement sexuel 46,XX · Syndrome avec ADS 46,XX · Syndrome avec DSD 46,XX |
| de | Syndrome mit Störung der Geschlechtsentwicklung 46,XX | Syndrome mit 46,XX-DSD |
| es | Síndrome con desarrollo sexual diferente 46,XX | Síndrome con DSD 46,XX · Síndrome con trastorno del desarrollo sexual 46,XX |
| it | Sindrome associata al disturbo dello sviluppo sessuale 46,XX | Sindrome associata a DSD 46,XX |
| nl | Syndroom met 46,XX-geslachtsontwikkelingsstoornis | Syndroom met 46,XX-DSD |
| pt | Síndrome com doença do desenvolvimento sexual 46,XX | |
| pl | Zespół z zaburzeniem różnicowania płci z kariotypem 46,XX | Zespół ZRP 46,XX |
| cs | Syndrom 46,XX poruchy pohlavního vývoje | Syndrom 46,XX DSD |
| uk | Синдром 46,XX з порушенням статевої диференціації | Синдром з 46,XX порушенням статевого розвитку · Синдром з 46,XX ПСР |
| zh | 46，XX性发育障碍综合征 | 46,XXDSD综合征 |
| tr | 46, XX cinsiyet gelişim bozukluğu ile seyreden sendromu | 46, XX DSD ile seyreden sendrom |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17965 | E | validated | |
| UMLS | C5679873 | 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:298246,XX difference of sex development
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare endocrine diseases - ORPHA:325697Genetic 46,XX difference of sex development
rare genetic diseases
Children (8):
- ORPHA:297346,XX difference of sex development-anorectal anomalies syndrome
- ORPHA:297546,XX difference of sex development-skeletal anomalies syndrome
- ORPHA:137631Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
- ORPHA:247768Müllerian aplasia and hyperandrogenism
- ORPHA:991PAGOD syndrome
- ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
- ORPHA:2855Perrault syndrome
- ORPHA:139466SERKAL syndrome
4
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/325109
- This record as JSON: /data/d/325109.json