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TX: CodeSystem genomicstudy-type

Properties

Profile http://hl7.org/fhir/StructureDefinition/shareablecodesystem
Last updated: March 26, 2023 at 04:21:02 AM UTC
Defining URL http://hl7.org/fhir/genomicstudy-type
Version 5.0.0
Name GenomicStudyType
Title Genomic Study Type
Status active
Definition

The type relevant to GenomicStudy.
Publisher HL7 (FHIR Project)
Committee cg
EXT_FMM_LEVEL 1
Source hl7.fhir.r5.core#5.0.0
Value Set Genomic Study Type

This case-sensitive code system http://hl7.org/fhir/genomicstudy-type defines the following codes:

Code Display Definition
alt-splc Alternative splicing detection Identification of multiple different processed mRNA transcripts from the same DNA template
chromatin Chromatin conformation Analysis of the spacial organization of chromatin within a cell
cnv CNV detection Detection of a change in the number of copies of a defined region of genomic DNA sequence resulting in structural variation when compared to the reference sequence
epi-alt-hist Epigenetic Alterations - histone modifications Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression
epi-alt-dna Epigenetic Alterations -DNA methylation Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription
fam-var-segr Familial variant segregation Determining if a variant identified in an individual is present in other family members
func-var Functional variation detection Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence
gene-expression Gene expression profiling Measurement and characterization of activity from all gene products
post-trans-mod Post-translational Modification Identification Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein
snp SNP Detection Determination of which nucleotide is base present at a known variable location of the genomic sequence
str STR count Quantification of the number of sequential microsatellite units in a repetitive sequence region
struc-var Structural variation detection Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence