Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

ValueSet: Genomic Study Change Type ValueSet (Experimental)

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-change-type-vs Version: 3.0.1-SNAPSHOT
Active as of 2024-04-09 Computable Name: GenomicStudyChangeTypeVS

Backport of http://hl7.org/fhir/ValueSet/genomicstudy-changetype

References

Logical Definition (CLD)

 

Expansion

Expansion based on codesystem Genomic Study Change Type CodeSystem v3.0.1-SNAPSHOT (CodeSystem)

This value set contains 5 concepts.

CodeSystemDisplayDefinition
  DNAhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-csDNA change

Change that involves Deoxyribonucleic acid (DNA) sequences.

  RNAhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-csRNA change

Change that involves Ribonucleic Acid (RNA) sequences.

  AAhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-csProtein/amino Acids change

Change that involves Amino Acid (AA) or protein sequences.

  CHRhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-csChromosomal changes

Change that involves number or strcture of chromosomes.

  CNVhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-csCopy number variations

Change that involves copy number variations among various genomes.

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. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System 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)
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