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46,XX gonadal dysgenesis

^ http://www.orpha.net/ORDO/Orphanet_243


46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

Synonyms: 46,XX pure gonadal dysgenesis, XX female gonadal dysgenesis, 46,XX complete gonadal dysgenesis, FSH-RO, Follicular stimulating hormone-resistant ovaries, XX-GD, 46,XX ovarian dysgenesis, Hypergonadotropic ovarian dysgenesis

Term info

database cross reference
  • OMIM:233300 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C0685837 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q99.1 (Specific code (The term has its own code in the ICD10))
  • ICD-10:Q99.1 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:614324 (BTNT (broader term maps to a narrower term))
  • MeSH:D023961 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C0949595 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:300510 (BTNT (broader term maps to a narrower term))
hasDbXref

UMLS:C0949595, UMLS:C0685837, OMIM:233300, ICD-10:Q99.1, OMIM:614324, OMIM:300510, MeSH:D023961

notation

ORPHA:243