Preferred Label : 46,XX Testicular Differences of Sex Development;
NCIt related terms : 46,XX Testicular DSD; 46,XX Testicular Disorders of Sex Development;
Alternative definition : NICHD: Presence of testes in an individual with a 46,XX karyotype, typically associated
with translocation of the SRY gene, encoding the transcription factor sex-determining
region Y protein, from the paternal Y chromosome to the paternal X chromosome during
gametogenesis (SRY-positive). Approximately 15-20% of individuals with 46,XX testicular
DSD are SRY-negative. These individuals may have other genetic variations affecting
testis determination, such as duplication of the SOX9 gene, which encodes the transcription
factor SOX-9.;
Origin ID : C127170;
UMLS CUI : C2936419;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Has associated anatomic sites
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- disease_has_primary_anatomic_site
