# Genomic Study Type CodeSystem - Genomics Reporting Implementation Guide v4.0.0-cibuild

* [**Table of Contents**](toc.md)
* [**Artifact List**](artifacts.md)
* **Genomic Study Type CodeSystem**

## CodeSystem: Genomic Study Type CodeSystem (Experimental) 

| | |
| :--- | :--- |
| *Official URL*:http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs | *Version*:4.0.0-cibuild |
| *Standards status:*[Informative](http://hl7.org/fhir/R4/versions.html#std-process) | *Computable Name*:GenomicStudyTypeCS |

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

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

* [GenomicStudyTypeVS](ValueSet-genomic-study-type-vs.md)



## Resource Content

```json
{
  "resourceType" : "CodeSystem",
  "id" : "genomic-study-type-cs",
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode" : "informative",
      "_valueCode" : {
        "extension" : [
          {
            "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical" : "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
          }
        ]
      }
    }
  ],
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs",
  "version" : "4.0.0-cibuild",
  "name" : "GenomicStudyTypeCS",
  "title" : "Genomic Study Type CodeSystem",
  "status" : "active",
  "experimental" : true,
  "date" : "2025-11-08T00:09:50+00:00",
  "publisher" : "HL7 International / Clinical Genomics",
  "contact" : [
    {
      "name" : "HL7 International / Clinical Genomics",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/clingenomics"
        },
        {
          "system" : "email",
          "value" : "cg@lists.HL7.org"
        }
      ]
    }
  ],
  "description" : "Backport of http://hl7.org/fhir/genomicstudy-type",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "caseSensitive" : true,
  "content" : "complete",
  "count" : 12,
  "concept" : [
    {
      "code" : "alt-splc",
      "display" : "Alternative splicing detection",
      "definition" : "Identification of multiple different processed mRNA transcripts from the same DNA template"
    },
    {
      "code" : "chromatin",
      "display" : "Chromatin conformation",
      "definition" : "Analysis of the spacial organization of chromatin within a cell"
    },
    {
      "code" : "cnv",
      "display" : "CNV detection",
      "definition" : "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"
    },
    {
      "code" : "epi-alt-hist",
      "display" : "Epigenetic Alterations - histone modifications",
      "definition" : "Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression"
    },
    {
      "code" : "epi-alt-dna",
      "display" : "Epigenetic Alterations -DNA methylation",
      "definition" : "Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription"
    },
    {
      "code" : "fam-var-segr",
      "display" : "Familial variant segregation",
      "definition" : "Determining if a variant identified in an individual is present in other family members"
    },
    {
      "code" : "func-var",
      "display" : "Functional variation detection",
      "definition" : "Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence"
    },
    {
      "code" : "gene-expression",
      "display" : "Gene expression profiling",
      "definition" : "Measurement and characterization of activity from all gene products"
    },
    {
      "code" : "post-trans-mod",
      "display" : "Post-translational Modification Identification",
      "definition" : "Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein"
    },
    {
      "code" : "snp",
      "display" : "SNP Detection",
      "definition" : "Determination of which nucleotide is base present at a known variable location of the genomic sequence"
    },
    {
      "code" : "str",
      "display" : "STR count",
      "definition" : "Quantification of the number of sequential microsatellite units in a repetitive sequence region"
    },
    {
      "code" : "struc-var",
      "display" : "Structural variation detection",
      "definition" : "Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence"
    }
  ]
}

```
