aneuploidy - CISMeF

Preferred Label : aneuploidy;

MeSH definition : The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N 2), the addition of a single chromosome is TRISOMY (symbol: 2N 1).;

MeSH synonym : aneuploidies; aneuploids; aneuploid;

Related MeSH term : aneuploid cell; Aneuploid Cells; Cell, Aneuploid; Cells, Aneuploid;

Wikipedia link : https://en.wikipedia.org/wiki/Aneuploidy;

Details

Origin ID

D000782;

UMLS CUI

C0002938;

Automatic exact mappings (from CISMeF team)
- Aneuploid cells [LOINC component]
- Other specified chromosome abnormalities [ICD-10 Sub-category (who)]
- aneuploid [OBI concept]
Currated CISMeF NLP mapping
- Aneuploidy [PASCAL descriptor]
- Aneuploidy [NCIt concept]
- Aneuploidy (morphologic abnormality) [SNOMED CT concept]
- aneuploidy [Disease (Nov.)]
- aneuploidy, nos [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- Tetrasomy 12p [ORDO Disease]
- Tetrasomy 18p [ORDO Disease]
- Tetrasomy 21 [ORDO Disease]
- Tetrasomy 9p [ORDO Disease]
Record concept(s)
- aneuploid cell [MeSH concept]
- aneuploidy [MeSH concept]
Related MeSH Supplementary Concept(s)
- 49,XXXXX syndrome [MeSH Supplementary Concept]
- Schmid-Fraccaro syndrome [MeSH Supplementary Concept]
- chromosome 15q, tetrasomy [MeSH Supplementary Concept]
- chromosome 18, tetrasomy 18p [MeSH Supplementary Concept]
- chromosome 21, tetrasomy 21q [MeSH Supplementary Concept]
- chromosome 9, duplication 9q21 [MeSH Supplementary Concept]
- chromosome 9, tetrasomy 9p [MeSH Supplementary Concept]
See also
- aneugens [MeSH Descriptor]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Aneuploidy [PASCAL descriptor]
- Aneuploidy [NCIt concept]
- Aneuploidy (morphologic abnormality) [SNOMED CT concept]
- aneuploidy [Disease (Nov.)]
- aneuploidy, nos [SNOMED Notion]

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