gonadal dysgenesis, 46,XX

Preferred Label : gonadal dysgenesis, 46,XX;

UMLS semantic type : T019 - Congenital Abnormality; T047 - Disease or Syndrome;

Origin ID

M0368823;

UMLS CUI

C0949595;

Automatic exact mappings (from CISMeF team)
- 46,XX testicular disorder of sex development (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 46 XX gonadal dysgenesis [DO Concept]
- 46,XX Gonadal Dysgenesis [NCIt concept]
- 46,XX gonadal dysgenesis [ICD-11 Subcategory]
- 46,XX gonadal dysgenesis [ORDO Disease]
- Ovarian dysgenesis 1 [OMIM Phenotype]
- Pure gonadal dysgenesis 46,XX (disorder) [SNOMED CT concept]
- pure gonadal dysgenesis 46,xx [SNOMED Notion]
MeSH narrower concept(s)
- pure gonadal dysgenesis, 46, XX [MeSH concept]
Related record
- gonadal dysgenesis, 46,xx [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 46 XX gonadal dysgenesis [DO Concept]
- 46,XX Gonadal Dysgenesis [NCIt concept]
- Ovarian dysgenesis 1 [OMIM Phenotype]