National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Numerical Chromosomal Abnormality

ID

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

ALT_DEFINITION

chromosomal constitution of cells which deviate from the normal by the addition or subtraction of chromosomes or chromosome pairs.

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

C6825

DEFINITION

An irregularity in the number of chromosomes.

FULL_SYN

Numerical Chromosome Anomalies

Numerical Chromosomal Abnormalities

Numerical Chromosome Aberration

Numerical Chromosome Anomaly

label

Numerical Chromosomal Abnormality

Legacy_Concept_Name

Numerical_Chromosome_Aberration

Preferred_Name

Numerical Chromosomal Abnormality

prefixIRI

C6825

prefLabel

Numerical Chromosomal Abnormality

Semantic_Type

Cell or Molecular Dysfunction

UMLS_CUI

C1518472

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2950

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