National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Id http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2950
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2950
Preferred Name

Cytogenetic Abnormality
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.
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
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Type http://www.w3.org/2002/07/owl#Class

All Properties

label
Cytogenetic Abnormality
Maps_To
Structural Variation
Structural Alteration
Legacy Concept Name
Chromosomal_Aberration
Is_Value_For_GDC_Property
Preferred_Name
Cytogenetic Abnormality
Display_Name
Cytogenetic Abnormality
Semantic_Type
Cell or Molecular Dysfunction
prefixIRI
Thesaurus:C2950
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.
UMLS_CUI
C0008625
code
C2950
subClassOf
type
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
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Contributing_Source
CPTAC
CTRP
GDC
NICHD
Concept_In_Subset
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