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4.4.1.229 ValueSet http://hl7.org/fhir/ValueSet/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/ValueSet/genomicstudy-type Version: 6.0.0-ballot2
draft as of 2022-08-17 Computable Name: GenomicStudyType
Flags: Experimental OID: 2.16.840.1.113883.4.642.3.3082

This value set is used in the following places:

4.4.1.229.1 Definition

The type of the GenomicStudy.

4.4.1.229.2 Content Logical Definition

Generated Narrative: ValueSet genomicstudy-type

Last updated: 2024-11-22T08:35:32.968-05:00

Profile: Shareable ValueSet

 

4.4.1.229.3 Expansion

This expansion generated 22 Nov 2024

Generated Narrative: ValueSet

Last updated: 2024-11-22T08:35:32.968-05:00

Profile: Shareable ValueSet

Expansion based on codesystem Genomic Study Type v6.0.0-ballot2 (CodeSystem)

This value set contains 12 concepts

CodeSystemDisplayDefinition
  alt-splc http://hl7.org/fhir/genomicstudy-type Alternative splicing detection

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

  chromatin http://hl7.org/fhir/genomicstudy-type Chromatin conformation

Analysis of the spacial organization of chromatin within a cell

  cnv http://hl7.org/fhir/genomicstudy-type 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 http://hl7.org/fhir/genomicstudy-type 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 http://hl7.org/fhir/genomicstudy-type 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 http://hl7.org/fhir/genomicstudy-type Familial variant segregation

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

  func-var http://hl7.org/fhir/genomicstudy-type Functional variation detection

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

  gene-expression http://hl7.org/fhir/genomicstudy-type Gene expression profiling

Measurement and characterization of activity from all gene products

  post-trans-mod http://hl7.org/fhir/genomicstudy-type Post-translational Modification Identification

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

  snp http://hl7.org/fhir/genomicstudy-type SNP Detection

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

  str http://hl7.org/fhir/genomicstudy-type STR count

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

  struc-var http://hl7.org/fhir/genomicstudy-type Structural 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:

Lvl A 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
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