National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C6825

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU059372 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/LNC/LA19940-8 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/MESH/D000782 Medical Subject Headings LOOM