Preferred Label : Cytogenetic Abnormality;
NCIt synonyms : Chromosomal Abnormality; Chromosome Anomalies; Chromosomal Alterations; Chromosome Aberration; Cytogenetic Aberration; Chromosome Alterations; Chromosomal Aberration; Aberrant Chromosome; Genomic Structural Variation;
NCIt related terms : Chromosome Abnormality; Cytogenetic Analysis Abnormality Type; Chromosomal Abnormalities;
NCIt 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.;
Origin ID : C2950;
UMLS CUI : C0008625;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
concept_is_in_subset
kind_is_domain_of
http://www.eaclf.org/docs/TestADNlc-Notice_final.pdf
2024
France
patient education handout
Last Screening
information dissemination
pregnancy, nos
Destination
Circulating Cell-Free DNA
emigration and immigration
Informative
mass screening
Screening Study
Cytogenetic Abnormality
Substance Screening
Chromosome Disorder
Cell-Free DNA Blood Collection Tube
dna analysis, nos
DNA Analysis
chromosomal disease, nos
cfDNA Mutation
Informed
Pregnant People
DNA
Gravida
Genetic Screening
Cell-Free Nucleic Acids
Human Cells, Tissues, and Cellular and Tissue-Based Products Screening
chromosome analysis, nos
Cancer Screening
Trial Screening
Eligibility Determination
Site Screening
No Information Available
screening
chromosomes
chromosome aberrations
Oprelvekin
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