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

{
  "description" : "The method type of the GenomicStudy analysis. These method types and relevant codes were pulled from [National Library of Medicine-Genetic Testing Registry](https://www.ncbi.nlm.nih.gov/gtr/) (NCBI-GTR) values of describing different testing methods on various levels: [major method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Major_method_category.txt), [method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Method_category.txt), and [primary methodology](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Primary_test_methodology.txt)",
  "compose" : null,
  "package" : "hl7.fhir.r5.core@5.0.0",
  "date" : "2022-08-16T21:49:24Z",
  "meta" : {
    "profile" : [ "http://hl7.org/fhir/StructureDefinition/shareablecodesystem" ],
    "lastUpdated" : "2023-03-25T23:21:02-05:00"
  },
  "publisher" : "HL7 (FHIR Project)",
  "jurisdiction" : [ {
    "coding" : [ {
      "code" : "001",
      "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
      "display" : "World"
    } ]
  } ],
  "content" : "complete",
  "name" : "GenomicStudyMethodType",
  "experimental" : true,
  "resourceType" : "CodeSystem",
  "title" : "Genomic Study Method 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" : "8662f6be-3050-501c-8665-ad20053b8273",
  "valueSet" : "http://hl7.org/fhir/ValueSet/genomicstudy-methodtype",
  "url" : "http://hl7.org/fhir/genomicstudy-methodtype",
  "identifier" : [ {
    "value" : "urn:oid:2.16.840.1.113883.4.642.4.1979",
    "system" : "urn:ietf:rfc:3986"
  } ],
  "concept" : [ {
    "code" : "biochemical-genetics",
    "display" : "Biochemical Genetics"
  }, {
    "code" : "cytogenetics",
    "display" : "Cytogenetics"
  }, {
    "code" : "molecular-genetics",
    "display" : "Molecular Genetics"
  }, {
    "code" : "analyte",
    "display" : "Analyte"
  }, {
    "code" : "chromosome-breakage-studies",
    "display" : "Chromosome breakage studies"
  }, {
    "code" : "deletion-duplication-analysis",
    "display" : "Deletion/duplication analysis"
  }, {
    "code" : "detection-of-homozygosity",
    "display" : "Detection of homozygosity"
  }, {
    "code" : "enzyme-assay",
    "display" : "Enzyme assay"
  }, {
    "code" : "fish-interphase",
    "display" : "FISH-interphase"
  }, {
    "code" : "fish-metaphase",
    "display" : "FISH-metaphase"
  }, {
    "code" : "flow-cytometry",
    "display" : "Flow cytometry"
  }, {
    "code" : "fish",
    "display" : "Fluorescence in situ hybridization (FISH)"
  }, {
    "code" : "immunohistochemistry",
    "display" : "Immunohistochemistry"
  }, {
    "code" : "karyotyping",
    "display" : "Karyotyping"
  }, {
    "code" : "linkage-analysis",
    "display" : "Linkage analysis"
  }, {
    "code" : "methylation-analysis",
    "display" : "Methylation analysis"
  }, {
    "code" : "msi",
    "display" : "Microsatellite instability testing (MSI)"
  }, {
    "code" : "m-fish",
    "display" : "Multicolor FISH (M-FISH)"
  }, {
    "code" : "mutation-scanning-of-select-exons",
    "display" : "Mutation scanning of select exons"
  }, {
    "code" : "mutation-scanning-of-the-entire-coding-region",
    "display" : "Mutation scanning of the entire coding region"
  }, {
    "code" : "protein-analysis",
    "display" : "Protein analysis"
  }, {
    "code" : "protein-expression",
    "display" : "Protein expression"
  }, {
    "code" : "rna-analysis",
    "display" : "RNA analysis"
  }, {
    "code" : "sequence-analysis-of-select-exons",
    "display" : "Sequence analysis of select exons"
  }, {
    "code" : "sequence-analysis-of-the-entire-coding-region",
    "display" : "Sequence analysis of the entire coding region"
  }, {
    "code" : "sister-chromatid-exchange",
    "display" : "Sister chromatid exchange"
  }, {
    "code" : "targeted-variant-analysis",
    "display" : "Targeted variant analysis"
  }, {
    "code" : "udp",
    "display" : "Uniparental disomy study (UPD)"
  }, {
    "code" : "aspe",
    "display" : "Allele-specific primer extension (ASPE)"
  }, {
    "code" : "alternative-splicing-detection",
    "display" : "Alternative splicing detection"
  }, {
    "code" : "bi-directional-sanger-sequence-analysis",
    "display" : "Bi-directional Sanger Sequence Analysis"
  }, {
    "code" : "c-banding",
    "display" : "C-banding"
  }, {
    "code" : "cia",
    "display" : "Chemiluminescent Immunoassay (CIA)"
  }, {
    "code" : "chromatin-immunoprecipitation-on-chip",
    "display" : "Chromatin Immunoprecipitation on ChIP"
  }, {
    "code" : "comparative-genomic-hybridization",
    "display" : "Comparative Genomic Hybridization"
  }, {
    "code" : "damid",
    "display" : "DamID"
  }, {
    "code" : "digital-virtual-karyotyping",
    "display" : "Digital / Virtual karyotyping"
  }, {
    "code" : "digital-microfluidic-microspheres",
    "display" : "Digital microfluidic microspheres"
  }, {
    "code" : "enzymatic-levels",
    "display" : "Enzymatic levels"
  }, {
    "code" : "enzyme-activity",
    "display" : "Enzyme activity"
  }, {
    "code" : "elisa",
    "display" : "Enzyme-Linked Immunosorbent Assays (ELISA)"
  }, {
    "code" : "fluorometry",
    "display" : "Fluorometry"
  }, {
    "code" : "fusion-genes-microarrays",
    "display" : "Fusion genes microarrays"
  }, {
    "code" : "g-banding",
    "display" : "G-banding"
  }, {
    "code" : "gc-ms",
    "display" : "Gas chromatography–mass spectrometry (GC-MS)"
  }, {
    "code" : "gene-expression-profiling",
    "display" : "Gene expression profiling"
  }, {
    "code" : "gene-id",
    "display" : "GeneID"
  }, {
    "code" : "gold-nanoparticle-probe-technology",
    "display" : "Gold nanoparticle probe technology"
  }, {
    "code" : "hplc",
    "display" : "High-performance liquid chromatography (HPLC)"
  }, {
    "code" : "lc-ms",
    "display" : "Liquid chromatography mass spectrometry (LC-MS)"
  }, {
    "code" : "lc-ms-ms",
    "display" : "Liquid chromatography-tandem mass spectrometry (LC-MS/MS)"
  }, {
    "code" : "metabolite-levels",
    "display" : "Metabolite levels"
  }, {
    "code" : "methylation-specific-pcr",
    "display" : "Methylation-specific PCR"
  }, {
    "code" : "microarray",
    "display" : "Microarray"
  }, {
    "code" : "mlpa",
    "display" : "Multiplex Ligation-dependent Probe Amplification (MLPA)"
  }, {
    "code" : "ngs-mps",
    "display" : "Next-Generation (NGS)/Massively parallel sequencing (MPS)"
  }, {
    "code" : "ola",
    "display" : "Oligonucleotide Ligation Assay (OLA)"
  }, {
    "code" : "oligonucleotide-hybridization-based-dna-sequencing",
    "display" : "Oligonucleotide hybridization-based DNA sequencing"
  }, {
    "code" : "other",
    "display" : "Other"
  }, {
    "code" : "pcr",
    "display" : "PCR"
  }, {
    "code" : "pcr-with-allele-specific-hybridization",
    "display" : "PCR with allele specific hybridization"
  }, {
    "code" : "pcr-rflp-with-southern-hybridization",
    "display" : "PCR-RFLP with Southern hybridization"
  }, {
    "code" : "protein-truncation-test",
    "display" : "Protein truncation test"
  }, {
    "code" : "pyrosequencing",
    "display" : "Pyrosequencing"
  }, {
    "code" : "q-banding",
    "display" : "Q-banding"
  }, {
    "code" : "qpcr",
    "display" : "Quantitative PCR (qPCR)"
  }, {
    "code" : "r-banding",
    "display" : "R-banding"
  }, {
    "code" : "rflp",
    "display" : "RFLP"
  }, {
    "code" : "rt-lamp",
    "display" : "RT-LAMP"
  }, {
    "code" : "rt-pcr",
    "display" : "RT-PCR"
  }, {
    "code" : "rt-pcr-with-gel-analysis",
    "display" : "RT-PCR with gel analysis"
  }, {
    "code" : "rt-qpcr",
    "display" : "RT-qPCR"
  }, {
    "code" : "snp-detection",
    "display" : "SNP Detection"
  }, {
    "code" : "silver-staining",
    "display" : "Silver staining"
  }, {
    "code" : "sky",
    "display" : "Spectral karyotyping (SKY)"
  }, {
    "code" : "t-banding",
    "display" : "T-banding"
  }, {
    "code" : "ms-ms",
    "display" : "Tandem mass spectrometry (MS/MS)"
  }, {
    "code" : "tetra-nucleotide-repeat-by-pcr-or-southern-blot",
    "display" : "Tetra-nucleotide repeat by PCR or Southern Blot"
  }, {
    "code" : "tiling-arrays",
    "display" : "Tiling Arrays"
  }, {
    "code" : "trinucleotide-repeat-by-pcr-or-southern-blot",
    "display" : "Trinucleotide repeat by PCR or Southern Blot"
  }, {
    "code" : "uni-directional-sanger-sequencing",
    "display" : "Uni-directional Sanger sequencing"
  } ],
  "caseSensitive" : true,
  "version" : "5.0.0",
  "contact" : [ {
    "telecom" : [ {
      "value" : "http://hl7.org/fhir",
      "system" : "url"
    }, {
      "value" : "fhir@lists.hl7.org",
      "system" : "email"
    } ]
  } ]
}