46,XX Sex Reversal 1

Preferred Label : 46,XX Sex Reversal 1;

NCIt synonyms : XX Male, SRY-Positive; SRXX1;

NCIt definition : Presence of testes in an individual with a 46,XX karyotype associated with translocation of the SRY gene, encoding the transcription factor sex-determining region Y protein (SRY-positive).;

NCI Metathesaurus CUI : CL1662361;

Details

Origin ID

C179867;

UMLS CUI

C2748895;

Currated CISMeF NLP mapping
- 46,XX sex reversal 1 [OMIM Phenotype]
- 46,XX sex reversal 1 [DO Concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Reproductive System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XX sex reversal 1 [OMIM Phenotype]
- Ovotesticular disorder of sex development (disorder) [SNOMED CT concept]
- ovotesticular disorders of sex development [MeSH Descriptor]
- ovotesticular disorders of sex development [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Reproductive System [NCIt concept]
disease_mapped_to_gene
- SRY Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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