National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Cytogenetic Abnormality
Synonyms

Genomic Structural Variation

Chromosomal Alterations

Chromosomal Abnormality

Chromosomal Aberration

Chromosome Anomalies

Chromosomal Abnormalities

Chromosome Alterations

Chromosome Abnormality

Aberrant Chromosome

Cytogenetic Aberration

Cytogenetic Abnormality

Cytogenetic Analysis Abnormality Type

Chromosome Aberration
Definitions

An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material.
ID

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

C2950
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156952

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C159339

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142800

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158034

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158520

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156953

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158035

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source

CPTAC

CTRP

GDC

NICHD
DEFINITION

An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material.
Display_Name

Cytogenetic Abnormality
FULL_SYN

Genomic Structural Variation

Chromosomal Alterations

Chromosomal Abnormality

Chromosomal Aberration

Chromosome Anomalies

Chromosomal Abnormalities

Chromosome Alterations

Chromosome Abnormality

Aberrant Chromosome

Cytogenetic Aberration

Cytogenetic Abnormality

Cytogenetic Analysis Abnormality Type

Chromosome Aberration
Is_Value_For_GDC_Property

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C175886

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C172272
label

Cytogenetic Abnormality
Legacy Concept Name

Chromosomal_Aberration
Maps_To

Structural Variation

Structural Alteration
Preferred_Name

Cytogenetic Abnormality
prefixIRI

Thesaurus:C2950
Semantic_Type

Cell or Molecular Dysfunction
UMLS_CUI

C0008625
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3910
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