This page is part of the FHIR Specification (v5.0.0: R5 - STU). This is the current published version. For a full list of available versions, see the Directory of published versions

4.3.2.426 CodeSystem http://hl7.org/fhir/genomicstudy-type

Clinical Genomics Work Group

Maturity Level: 1

Trial Use

Use Context: Country: World, Not yet ready for Production use

• Narrative
• XML
• JSON
• TTL

This Code system is used in the following value sets:

• ValueSet: Genomic Study Type (The type of the GenomicStudy.)

4.3.2.426.1 Definition

The type relevant to GenomicStudy.

4.3.2.426.2 Content

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

Code	Display	Definition	Copy
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

See the full registry of code systems defined as part of FHIR.

Explanation of the columns that may appear on this page: