Release 5 Ballot

This page is part of the FHIR Specification (v5.0.0-ballot: FHIR R5 Ballot Preview). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions

Example CodeSystem/genomicstudy-dataformat (JSON)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: Informative

Raw JSON (canonical form + also see JSON Format Specification)

Definition for Code SystemGenomicStudyDataFormat

{
  "resourceType" : "CodeSystem",
  "id" : "genomicstudy-dataformat",
  "meta" : {
    "lastUpdated" : "2022-09-07T11:58:29.429+11:00",
    "profile" : ["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div>!-- Snipped for Brevity --></div>"
  },
  "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" : 0
  }],
  "url" : "http://hl7.org/fhir/genomicstudy-dataformat",
  "identifier" : [{
    "system" : "urn:ietf:rfc:3986",
    "value" : "urn:oid:2.16.840.1.113883.4.642.4.1978"
  }],
  "version" : "5.0.0-ballot",
  "name" : "GenomicStudyDataFormat",
  "title" : "GenomicStudyDataFormat",
  "status" : "draft",
  "experimental" : false,
  "date" : "2022-08-17T14:49:24-05:00",
  "publisher" : "HL7 (FHIR Project)",
  "contact" : [{
    "telecom" : [{
      "system" : "url",
      "value" : "http://hl7.org/fhir"
    },
    {
      "system" : "email",
      "value" : "fhir@lists.hl7.org"
    }]
  }],
  "description" : "The data format relevant to genomics. These formats and relevant codes were pulled from [Integrative Genomics Viewer Documentation](https://software.broadinstitute.org/software/igv/FileFormats) by Broad Institute.",
  "caseSensitive" : true,
  "valueSet" : "http://hl7.org/fhir/ValueSet/genomicstudy-dataformat",
  "content" : "complete",
  "concept" : [{
    "code" : "bam",
    "display" : "BAM"
  },
  {
    "code" : "bed",
    "display" : "BED"
  },
  {
    "code" : "bedpe",
    "display" : "BEDPE"
  },
  {
    "code" : "bedgraph",
    "display" : "BedGraph"
  },
  {
    "code" : "bigbed",
    "display" : "bigBed"
  },
  {
    "code" : "bigWig",
    "display" : "bigWig"
  },
  {
    "code" : "birdsuite-files",
    "display" : "Birdsuite-Files"
  },
  {
    "code" : "broadpeak",
    "display" : "broadPeak"
  },
  {
    "code" : "cbs",
    "display" : "CBS"
  },
  {
    "code" : "chemical-reactivity-probing-profiles",
    "display" : "Chemical-Reactivity-Probing-Profiles"
  },
  {
    "code" : "chrom-sizes",
    "display" : "chrom-sizes"
  },
  {
    "code" : "cn",
    "display" : "CN"
  },
  {
    "code" : "custom-file-formats",
    "display" : "Custom-File-Formats"
  },
  {
    "code" : "cytoband",
    "display" : "Cytoband"
  },
  {
    "code" : "fasta",
    "display" : "FASTA"
  },
  {
    "code" : "gct",
    "display" : "GCT"
  },
  {
    "code" : "cram",
    "display" : "CRAM"
  },
  {
    "code" : "genepred",
    "display" : "genePred"
  },
  {
    "code" : "gff-gtf",
    "display" : "GFF/GTF"
  },
  {
    "code" : "gistic",
    "display" : "GISTIC"
  },
  {
    "code" : "goby",
    "display" : "Goby"
  },
  {
    "code" : "gwas",
    "display" : "GWAS"
  },
  {
    "code" : "igv",
    "display" : "IGV"
  },
  {
    "code" : "loh",
    "display" : "LOH"
  },
  {
    "code" : "maf-multiple-alignment-format",
    "display" : "MAF-Multiple Alignment Format"
  },
  {
    "code" : "maf-mutation-annotation-format",
    "display" : "MAF-Mutation-Annotation-Format"
  },
  {
    "code" : "merged-bam-file",
    "display" : "Merged BAM File"
  },
  {
    "code" : "mut",
    "display" : "MUT"
  },
  {
    "code" : "narrowpeak",
    "display" : "narrowPeak"
  },
  {
    "code" : "psl",
    "display" : "PSL"
  },
  {
    "code" : "res",
    "display" : "RES"
  },
  {
    "code" : "rna-secondary-structure-formats",
    "display" : "RNA-Secondary-Structure-Formats"
  },
  {
    "code" : "sam",
    "display" : "SAM"
  },
  {
    "code" : "sample-info-attributes-file",
    "display" : "Sample-Info-Attributes-file"
  },
  {
    "code" : "seg",
    "display" : "SEG"
  },
  {
    "code" : "tdf",
    "display" : "TDF"
  },
  {
    "code" : "track-line",
    "display" : "Track Line"
  },
  {
    "code" : "type-line",
    "display" : "Type Line"
  },
  {
    "code" : "vcf",
    "display" : "VCF"
  },
  {
    "code" : "wig",
    "display" : "WIG"
  }]
}

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.