Preferred Label : Performed Genetic Observation Result Genetic Region of Interest;
NCIt related terms : PerformedGeneticObservationResult.geneticRegionOfInterest;
Alternative definition : BRIDG 5.3: The portion of the genome serving as a locus for the test result, often
a gene. EXAMPLE(S): EGFR, KRAS, CYP2D6, MYC, MFNG OTHER NAME(S): NOTE(S): These are
typically obtained from the gene symbol list maintained by the Human Genome Variation
Society (HGVS) HUGO Genome Nomenclature Consortium (HGNC), a committee of the Human
Genome Organization (HUGO). This can be a gene, a protein, or a sector as described
by geneticRegionTypeCode.;
NCI Metathesaurus CUI : CL978072;
Origin ID : C164930;
UMLS CUI : C5236724;
Anatomic structure is physical part of
- Semantic type(s)
- concept_is_in_subset
