Trisomy 22 - CISMeF

Preferred Label : Trisomy 22;

NCIt definition : A chromosomal abnormality consisting of the presence of a third copy of chromosome 22 in somatic cells.;

Details

Origin ID

C114765;

UMLS CUI

C0265490;

Currated CISMeF NLP mapping
- Chromosome 22, trisomy [MeSH concept]
- Complete trisomy 22 syndrome (disorder) [SNOMED CT concept]
- Trisomy 22 [MedDRA Preferred Term]
- Trisomy 22 (disorder) [SNOMED CT concept]
- chromosome 22, trisomy [MeSH Supplementary Concept]
- complete trisomy 22 syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 22, trisomy [MeSH concept]
- Complete trisomy 22 syndrome (disorder) [SNOMED CT concept]
- Trisomy 22 [MedDRA Preferred Term]
- Trisomy 22 (disorder) [SNOMED CT concept]
- chromosome 22, trisomy [MeSH Supplementary Concept]
- complete trisomy 22 syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 22 [NCIt concept]

Keyword's position in hierarchy(ies) :

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