46,XX Differences of Sex Development

Preferred Label : 46,XX Differences of Sex Development;

NCIt related terms : 46,XX DSD; 46,XX Disorders of Sex Development;

Alternative definition : NICHD: Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.;

Details

Origin ID

C127169;

UMLS CUI

C2936403;

Currated CISMeF NLP mapping
- 46, XX disorders of sex development [MeSH concept]
- 46, XX disorders of sex development [MeSH Descriptor]
- 46, XX disorders of sex development [Vue CIM-11]
- 46,XX difference of sex development [ORDO Disease]
- 46,XX disorder of sex development (disorder) [SNOMED CT concept]
- Genetic 46,XX difference of sex development [ORDO Disease]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Reproductive System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46, XX disorders of sex development [MeSH Descriptor]
- 46, XX disorders of sex development [MeSH concept]
- 46, XX disorders of sex development [Vue CIM-11]
- 46,XX disorder of sex development (disorder) [SNOMED CT concept]
- Genetic 46,XX difference of sex development [ORDO Disease]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Reproductive System [NCIt concept]

Keyword's position in hierarchy(ies) :

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