ORPHA:98087
Syndrome with 46,XY difference of sex development
Synonyms: Syndrome with 46,XY DSD · Syndrome with 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 | Syndrome with 46,XY difference of sex development | Syndrome with 46,XY DSD · Syndrome with 46,XY disorder of sex development |
| fr | Syndrome avec différence du développement sexuel 46,XY | Syndrome avec ADS 46,XY · Syndrome avec DSD 46,XY · Syndrome avec anomalie du développement sexuel 46,XY |
| de | Syndrome mit Störung der Geschlechtsentwicklung 46,XY | Syndrome mit 46,XY-DSD |
| es | Síndrome con desarrollo sexual diferente 46,XY | Síndrome con DSD 46,XY · Síndrome con trastorno del desarrollo sexual 46,XY |
| it | Sindrome associata a disturbo dello sviluppo sessuale 46,XY | Sindrome associata a DSD 46,XY |
| nl | Syndroom met 46,XY-geslachtsontwikkelingsstoornis | Syndroom met 46,XY-DSD |
| pt | Síndrome com doença do desenvolvimento sexual 46,XY | Anomalia disgenética do desenvolvimento sexual 46,XY |
| pl | Zespół z zaburzeniem różnicowania płci o kariotypie 46,XY | Zespół z 46,XY ZRP |
| cs | Syndrom s 46,XY poruchou sexuálního vývoje | Syndrom s 46,XY DSD |
| uk | Синдром з порушенням статевої диференціації 46,XY | Синдром з 46,XY порушенням статевого розвитку · Синдром з 46,XY ПСР |
| zh | 46,XY性发育异常综合征 | 伴46,XY DSD的综合征 |
| tr | 46, XY cinsiyet gelişim bozukluğu sendromu | 46, XY DSD ile seyreden sendrom |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680224 | 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:9808546,XY difference of sex development
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare endocrine diseases - ORPHA:325706Genetic 46,XY difference of sex development
rare genetic diseases
Children (19):
- ORPHA:16856346,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- ORPHA:140Campomelic dysplasia
- ORPHA:1422Chondrodysplasia-difference of sex development syndrome
- ORPHA:220Denys-Drash syndrome
- ORPHA:2983Difference of sex development-intellectual disability syndrome
- ORPHA:1642Distal deletion 9p syndrome
- ORPHA:2282Dysmorphism-short stature-deafness-difference of sex development syndrome
- ORPHA:95700Familial adrenal hypoplasia with absent pituitary luteinizing hormone
- ORPHA:347Frasier syndrome
- ORPHA:2075Genitopalatocardiac syndrome
- ORPHA:494433MIRAGE syndrome
- ORPHA:3097Meacham syndrome
- ORPHA:991PAGOD syndrome
- ORPHA:168593Sudden infant death-dysgenesis of the testes syndrome
- ORPHA:893WAGR syndrome
- ORPHA:847X-linked alpha-thalassemia-intellectual disability syndrome
- ORPHA:452X-linked lissencephaly with abnormal genitalia
- ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndrome
- ORPHA:1770XY type gonadal dysgenesis-associated anomalies syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/98087
- This record as JSON: /data/d/98087.json