46,XY complete gonadal dysgenesis
46,XY complete gonadal dysgenesis
Definition
46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.
Also known as 46 XY gonadal dysgenesis, 46, XY CGD, 46, XY complete gonadal dysgenesis, 46, XY pure gonadal dysgenesis, 46,XY CGD, 46,XY gonadal dysgenesis, 46,XY pure gonadal dysgenesis, 46,XY SEX reversal, Swyer syndrome — per MONDO
Also identified as
- DOID 14448 per MONDO
- MESH D006061 per MONDO
- NCIT C120198 per MONDO
- Orphanet 242 per MONDO
- SCTID 95218005 per MONDO
- UMLS C2936694 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Genitourinary system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Genitourinary system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Gonad | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Gonad | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Reproductive system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Reproductive system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |