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

4.4.1.216 ValueSet http://hl7.org/fhir/ValueSet/genomicstudy-type

Clinical Genomics icon Work Group Maturity Level: 1Trial Use Use Context: Country: World, Not yet ready for Production use
Official URL: http://hl7.org/fhir/ValueSet/genomicstudy-type Version: 5.0.0
draft as of 2022-08-18 Computable Name: GenomicStudyType
Flags: Experimental OID: 2.16.840.1.113883.4.642.3.3082

This value set is used in the following places:

4.4.1.216.1 Definition

The type of the GenomicStudy.

4.4.1.216.2 Content Logical Definition

 

4.4.1.216.3 Expansion

This expansion generated 26 Mar 2023

This value set contains 12 concepts

Expansion based on Genomic Study Type v5.0.0 (CodeSystem)

CodeSystemDisplayDefinition
  alt-splchttp://hl7.org/fhir/genomicstudy-typeAlternative splicing detection

Identification of multiple different processed mRNA transcripts from the same DNA template

  chromatinhttp://hl7.org/fhir/genomicstudy-typeChromatin conformation

Analysis of the spacial organization of chromatin within a cell

  cnvhttp://hl7.org/fhir/genomicstudy-typeCNV 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-histhttp://hl7.org/fhir/genomicstudy-typeEpigenetic 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-dnahttp://hl7.org/fhir/genomicstudy-typeEpigenetic Alterations -DNA methylation

Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription

  fam-var-segrhttp://hl7.org/fhir/genomicstudy-typeFamilial variant segregation

Determining if a variant identified in an individual is present in other family members

  func-varhttp://hl7.org/fhir/genomicstudy-typeFunctional variation detection

Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence

  gene-expressionhttp://hl7.org/fhir/genomicstudy-typeGene expression profiling

Measurement and characterization of activity from all gene products

  post-trans-modhttp://hl7.org/fhir/genomicstudy-typePost-translational Modification Identification

Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein

  snphttp://hl7.org/fhir/genomicstudy-typeSNP Detection

Determination of which nucleotide is base present at a known variable location of the genomic sequence

  strhttp://hl7.org/fhir/genomicstudy-typeSTR count

Quantification of the number of sequential microsatellite units in a repetitive sequence region

  struc-varhttp://hl7.org/fhir/genomicstudy-typeStructural variation detection

Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence

 

See the full registry of value sets defined as part of FHIR.

Explanation of the columns that may appear on this page:

LvlA few code lists that FHIR defines are hierarchical - each code is assigned a level. For value sets, levels are mostly used to organize codes for user convenience, but may follow code system hierarchy - 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