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Source1

{
  "resourceType": "CodeSystem",
  "id": "genomicstudy-methodtype",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode": "trial-use"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger": 1
    },
    {
      "extension": [
        {
          "url": "packageId",
          "valueId": "hl7.fhir.uv.xver-r5.r4b"
        },
        {
          "url": "version",
          "valueString": "0.0.1-snapshot-2"
        }
      ],
      "url": "http://hl7.org/fhir/StructureDefinition/package-source"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "cg"
    }
  ],
  "url": "http://hl7.org/fhir/genomicstudy-methodtype",
  "version": "5.0.0",
  "name": "GenomicStudyMethodType",
  "title": "Genomic Study Method Type",
  "status": "active",
  "experimental": true,
  "date": "2022-08-17T07:49:24+10:00",
  "publisher": "Clinical Genomics",
  "contact": [
    {
      "name": "Clinical Genomics",
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        }
      ]
    }
  ],
  "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)",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code": "001",
          "display": "World"
        }
      ]
    }
  ],
  "caseSensitive": true,
  "valueSet": "http://hl7.org/fhir/ValueSet/genomicstudy-methodtype",
  "content": "complete",
  "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"
    }
  ]
}