Release 5

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 icon Work Group Maturity Level: 1 Trial Use Use Context: Country: World, Not yet ready for Production use

Official URL: http://hl7.org/fhir/genomicstudy-type Version: 5.0.0

active as of 2022年08月18日 Computable Name: GenomicStudyType

Flags: Experimental, CaseSensitive, Complete. All codes ValueSet: Genomic Study Type OID: 2.16.840.1.113883.4.642.4.1975

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 btn btn

chromatin Chromatin conformation Analysis of the spacial organization of chromatin within a cell btn btn

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 btn btn

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 btn btn

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 btn btn

fam-var-segr Familial variant segregation Determining if a variant identified in an individual is present in other family members btn btn

func-var Functional variation detection Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence btn btn

gene-expression Gene expression profiling Measurement and characterization of activity from all gene products btn btn

post-trans-mod Post-translational Modification Identification Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein btn btn

snp SNP Detection Determination of which nucleotide is base present at a known variable location of the genomic sequence btn btn

str STR count Quantification of the number of sequential microsatellite units in a repetitive sequence region btn btn

struc-var Structural variation detection Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence btn btn

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

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. See Code System for further information.

Source The source of the definition of the code (when the value set draws in codes defined elsewhere)

Code The code (used as the code in the resource instance). If the code is in italics, this indicates that the code is not selectable ('Abstract')

Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application

Definition An explanation of the meaning of the concept

Comments Additional notes about how to use the code