Genomics Reporting Implementation Guide
3.0.0 - release 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 3.0.0 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

CodeSystem: Genomic Study Change Type CodeSystem (Experimental)

Official URL: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs Version: 3.0.0
Active as of 2024-11-24 Computable Name: GenomicStudyChangeTypeCS

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

This Code system is referenced in the content logical definition of the following value sets:

Generated Narrative: CodeSystem genomic-study-change-type-cs

This case-sensitive code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-change-type-cs defines the following codes:

CodeDisplayDefinition
DNA DNA change Change that involves Deoxyribonucleic acid (DNA) sequences.
RNA RNA change Change that involves Ribonucleic Acid (RNA) sequences.
AA Protein/amino Acids change Change that involves Amino Acid (AA) or protein sequences.
CHR Chromosomal changes Change that involves number or strcture of chromosomes.
CNV Copy number variations Change that involves copy number variations among various genomes.