Preferred Name |
Aneuploidy |
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2873 |
ALT_DEFINITION |
The occurrence of one or more extra or missing chromosomes leading to an unbalanced chromosome complement, or any chromosome number that is not an exact multiple of the haploid number (which is 46). The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of chromosomes or chromosome pairs. In a normally diploid cell 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). |
code |
C2873 |
DEFINITION |
A chromosomal abnormality in which there is an addition or loss of chromosomes within a set (e.g., 23 + 22 or 23 + 24). |
label |
Aneuploidy |
Legacy_Concept_Name |
Aneuploidy |
Preferred_Name |
Aneuploidy |
prefixIRI |
C2873 |
prefLabel |
Aneuploidy |
Semantic_Type |
Cell or Molecular Dysfunction |
UMLS_CUI |
C0002938 |
subClassOf |