Trisomy X - CISMeF

Preferred Label : Trisomy X;

NCIt definition : A form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female.;

NCI Metathesaurus CUI : CL521323;

Details

Origin ID

C86948;

UMLS CUI

C0221033;

Currated CISMeF NLP mapping
- Karyotype 47, XXX [ICD-10 Sub-category]
- Karyotype 47,XXX [ICD-10 Sub-category (who)]
- Karyotype 47,XXX [ICD-11 Subcategory]
- Triple X syndrome [MeSH concept]
- Trisomy X [ORDO Disease]
- Trisomy X syndrome (disorder) [SNOMED CT concept]
- XXX syndrome [MedDRA Preferred Term]
- triple X syndrome [MeSH Supplementary Concept]
- trisomy x syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Karyotype 47, XXX [ICD-10 Sub-category]
- Karyotype 47,XXX [ICD-11 Subcategory]
- Triple X syndrome [MeSH concept]
- Trisomy X [ORDO Disease]
- Trisomy X syndrome (disorder) [SNOMED CT concept]
- XXX syndrome [MedDRA Preferred Term]
- triple X syndrome [MeSH Supplementary Concept]
- trisomy x syndrome [SNOMED Notion]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome X [NCIt concept]

Keyword's position in hierarchy(ies) :

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