http://hl7.org/fhir/genomicstudy-type|5.0.0

{
  "description" : "The type relevant to GenomicStudy.",
  "compose" : null,
  "package" : "hl7.fhir.r5.core@5.0.0",
  "date" : "2022-08-17T21:19:24Z",
  "meta" : {
    "profile" : [ "http://hl7.org/fhir/StructureDefinition/shareablecodesystem" ],
    "lastUpdated" : "2023-03-25T23:21:02.749-05:00"
  },
  "publisher" : "HL7 (FHIR Project)",
  "jurisdiction" : [ {
    "coding" : [ {
      "code" : "001",
      "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
      "display" : "World"
    } ]
  } ],
  "content" : "complete",
  "name" : "GenomicStudyType",
  "experimental" : true,
  "resourceType" : "CodeSystem",
  "title" : "Genomic Study Type",
  "supliment" : null,
  "extension" : [ {
    "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
    "valueCode" : "cg"
  }, {
    "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
    "valueCode" : "trial-use"
  }, {
    "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
    "valueInteger" : 1
  } ],
  "status" : "active",
  "id" : "0e8ad675-44e1-5a1e-ad14-d0d3fdc00fb6",
  "valueSet" : "http://hl7.org/fhir/ValueSet/genomicstudy-type",
  "url" : "http://hl7.org/fhir/genomicstudy-type",
  "identifier" : [ {
    "value" : "urn:oid:2.16.840.1.113883.4.642.4.1975",
    "system" : "urn:ietf:rfc:3986"
  } ],
  "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" : "5.0.0",
  "contact" : [ {
    "telecom" : [ {
      "value" : "http://hl7.org/fhir",
      "system" : "url"
    }, {
      "value" : "fhir@lists.hl7.org",
      "system" : "email"
    } ]
  } ]
}