46,XX testicular disorder of sex development

Preferred Label : 46,XX testicular disorder of sex development;

ICD-11 definition : Karyotype 46XX mostly associated with abnormal recombination between X and Y chromosomes (transfer of SRY from Y to X chromosome) ; gonadal sex testis; male phenotype;

ICD-11 synonym : 46,XX testicular DSD; De la Chapelle syndrome;

Details

Origin ID

1357942532;

UMLS CUI

C2936419;

Currated CISMeF NLP mapping
- 46, XX testicular disorders of sex development [MeSH concept]
- 46, XX testicular disorders of sex development [MeSH Descriptor]
- 46,XX Testicular Differences of Sex Development [NCIt concept]
- 46,XX sex reversal [DO Concept]
- 46,XX sex reversal 2 [OMIM Phenotype]
- 46,XX testicular disorder of sex development [ORDO Disease]
- 46,XX testicular disorder of sex development (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46, XX testicular disorders of sex development [MeSH Descriptor]
- 46, XX testicular disorders of sex development [MeSH concept]
- 46,XX Testicular Differences of Sex Development [NCIt concept]
- 46,XX testicular disorder of sex development (disorder) [SNOMED CT concept]
- De la Chapelle syndrome [MedDRA Preferred Term]
Validated automatic mappings to BTNT
- 46,XX sex reversal 1 [OMIM Phenotype]
- 46,XX sex reversal 2 [DO Concept]

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