National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Cytogenetic Abnormality

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#C90259

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

Contributing_Source

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.

FULL_SYN

Chromosome Abnormality

Chromosome Aberration

Chromosome Anomalies

Aberrant Chromosome

Cytogenetic Aberration

Chromosomal Abnormality

Chromosome Alterations

Chromosomal Alterations

Chromosomal Aberration

Chromosomal Abnormalities

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101

label

Cytogenetic Abnormality

Legacy_Concept_Name

Chromosomal_Aberration

NICHD_Hierarchy_Term

Chromosomal Abnormality

Preferred_Name

Cytogenetic Abnormality

prefixIRI

C2950

prefLabel

Cytogenetic Abnormality

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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