{
  "description": "Backport of http://hl7.org/fhir/genomicstudy-type",
  "_filename": "CodeSystem-genomic-study-type-cs.json",
  "package_name": "hl7.fhir.uv.genomics-reporting",
  "date": "2024-12-12T20:43:36+00:00",
  "publisher": "HL7 International / Clinical Genomics",
  "jurisdiction": [ {
    "coding": [ {
      "code": "001",
      "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
      "display": "World"
    } ]
  } ],
  "content": "complete",
  "name": "GenomicStudyTypeCS",
  "type": null,
  "experimental": "true",
  "resourceType": "CodeSystem",
  "title": "Genomic Study Type CodeSystem",
  "package_version": "3.0.0",
  "extension": [ {
    "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
    "valueCode": "cg"
  } ],
  "status": "active",
  "id": "7fc2d357-1eb5-4446-8011-8be7588372b2",
  "kind": null,
  "count": 12,
  "url": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs",
  "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"
  } ],
  "caseSensitive": true,
  "version": "3.0.0",
  "contact": [ {
    "name": "HL7 International / Clinical Genomics",
    "telecom": [ {
      "value": "http://www.hl7.org/Special/committees/clingenomics",
      "system": "url"
    }, {
      "value": "cg@lists.HL7.org",
      "system": "email"
    } ]
  } ]
}