Snapshot 3: Connectathon 32 Base

This page is part of the FHIR Specification (v5.0.0-snapshot3: R5 Snapshot #3, to support Connectathon 32). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions

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

Clinical Genomics icon Work Group Maturity Level: 0Trial Use Use Context: Country: World, Not yet ready for Production use, Not yet ready for Production use
Official URL: http://hl7.org/fhir/genomicstudy-type Version: 5.0.0-snapshot3
active as of 2022-08-18 Computable Name: GenomicStudyType
Flags: Experimental, CaseSensitive, Complete. All codes ValueSet: GenomicStudyType OID: 2.16.840.1.113883.4.642.4.1975

This Code system is used in the following value sets:

4.3.2.451.1 Definition

The type relevant to GenomicStudy.

4.3.2.451.2 Content

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

CodeDisplayDefinitionCopy
alt-splc Alternative splicing detectionIdentification of multiple different processed mRNA transcripts from the same DNA templatebtn btn
chromatin Chromatin conformationAnalysis of the spacial organization of chromatin within a cellbtn btn
cnv CNV detectionDetection 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 sequencebtn btn
epi-alt-hist Epigenetic Alterations - histone modificationsDetection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expressionbtn btn
epi-alt-dna Epigenetic Alterations -DNA methylationDetection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcriptionbtn btn
fam-var-segr Familial variant segregationDetermining if a variant identified in an individual is present in other family membersbtn btn
func-var Functional variation detectionDetection of sequence variants which may alter gene expression or gene product function when compared to the reference sequencebtn btn
gene-expression Gene expression profilingMeasurement and characterization of activity from all gene productsbtn btn
post-trans-mod Post-translational Modification IdentificationDetection of biochemical modifications covalently bound to the amino acid monomers of a processed proteinbtn btn
snp SNP DetectionDetermination of which nucleotide is base present at a known variable location of the genomic sequencebtn btn
str STR countQuantification of the number of sequential microsatellite units in a repetitive sequence regionbtn btn
struc-var Structural variation detectionDetection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequencebtn btn

 

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

Explanation of the columns that may appear on this page:

LevelA few code lists that FHIR defines are hierarchical - each code is assigned a level. See Code System for further information.
SourceThe source of the definition of the code (when the value set draws in codes defined elsewhere)
CodeThe code (used as the code in the resource instance). If the code is in italics, this indicates that the code is not selectable ('Abstract')
DisplayThe 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
DefinitionAn explanation of the meaning of the concept
CommentsAdditional notes about how to use the code