Genomic Study Method Type CodeSystem

{
  "description" : "Backport of http://hl7.org/fhir/genomicstudy-methodtype",
  "date" : "2024-12-12T21:16:09+00:00",
  "publisher" : "HL7 International / Clinical Genomics",
  "jurisdiction" : [ {
    "coding" : [ {
      "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
      "code" : "001",
      "display" : "World"
    } ]
  } ],
  "content" : "complete",
  "property" : null,
  "name" : "GenomicStudyMethodTypeCS",
  "experimental" : true,
  "resourceType" : "CodeSystem",
  "title" : "Genomic Study Method Type CodeSystem",
  "extension" : [ {
    "valueCode" : "cg",
    "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"
  }, {
    "extension" : [ {
      "valueString" : "concept",
      "url" : "path"
    }, {
      "url" : "count",
      "valueInteger" : 81
    } ],
    "url" : "http://health-samurai.io/extensions/excised-data"
  }, {
    "url" : "http://health-samurai.io/extensions/source",
    "valueCode" : "db"
  } ],
  "status" : "active",
  "id" : "genomic-study-method-type-cs",
  "count" : 81,
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs",
  "caseSensitive" : true,
  "version" : "3.0.0",
  "contact" : [ {
    "name" : "HL7 International / Clinical Genomics",
    "telecom" : [ {
      "system" : "url",
      "value" : "http://www.hl7.org/Special/committees/clingenomics"
    }, {
      "system" : "email",
      "value" : "cg@lists.HL7.org"
    } ]
  } ],
  "text" : {
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem genomic-study-method-type-cs</b></p><a name=\"genomic-study-method-type-cs\"> </a><a name=\"hcgenomic-study-method-type-cs\"> </a><a name=\"genomic-study-method-type-cs-en-US\"> </a><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">biochemical-genetics<a name=\"genomic-study-method-type-cs-biochemical-genetics\"> </a></td><td>Biochemical Genetics</td></tr><tr><td style=\"white-space:nowrap\">cytogenetics<a name=\"genomic-study-method-type-cs-cytogenetics\"> </a></td><td>Cytogenetics</td></tr><tr><td style=\"white-space:nowrap\">molecular-genetics<a name=\"genomic-study-method-type-cs-molecular-genetics\"> </a></td><td>Molecular Genetics</td></tr><tr><td style=\"white-space:nowrap\">analyte<a name=\"genomic-study-method-type-cs-analyte\"> </a></td><td>Analyte</td></tr><tr><td style=\"white-space:nowrap\">chromosome-breakage-studies<a name=\"genomic-study-method-type-cs-chromosome-breakage-studies\"> </a></td><td>Chromosome breakage studies</td></tr><tr><td style=\"white-space:nowrap\">deletion-duplication-analysis<a name=\"genomic-study-method-type-cs-deletion-duplication-analysis\"> </a></td><td>Deletion/duplication analysis</td></tr><tr><td style=\"white-space:nowrap\">detection-of-homozygosity<a name=\"genomic-study-method-type-cs-detection-of-homozygosity\"> </a></td><td>Detection of homozygosity</td></tr><tr><td style=\"white-space:nowrap\">enzyme-assay<a name=\"genomic-study-method-type-cs-enzyme-assay\"> </a></td><td>Enzyme assay</td></tr><tr><td style=\"white-space:nowrap\">fish-interphase<a name=\"genomic-study-method-type-cs-fish-interphase\"> </a></td><td>FISH-interphase</td></tr><tr><td style=\"white-space:nowrap\">fish-metaphase<a name=\"genomic-study-method-type-cs-fish-metaphase\"> </a></td><td>FISH-metaphase</td></tr><tr><td style=\"white-space:nowrap\">flow-cytometry<a name=\"genomic-study-method-type-cs-flow-cytometry\"> </a></td><td>Flow cytometry</td></tr><tr><td style=\"white-space:nowrap\">fish<a name=\"genomic-study-method-type-cs-fish\"> </a></td><td>Fluorescence in situ hybridization (FISH)</td></tr><tr><td style=\"white-space:nowrap\">immunohistochemistry<a name=\"genomic-study-method-type-cs-immunohistochemistry\"> </a></td><td>Immunohistochemistry</td></tr><tr><td style=\"white-space:nowrap\">karyotyping<a name=\"genomic-study-method-type-cs-karyotyping\"> </a></td><td>Karyotyping</td></tr><tr><td style=\"white-space:nowrap\">linkage-analysis<a name=\"genomic-study-method-type-cs-linkage-analysis\"> </a></td><td>Linkage analysis</td></tr><tr><td style=\"white-space:nowrap\">methylation-analysis<a name=\"genomic-study-method-type-cs-methylation-analysis\"> </a></td><td>Methylation analysis</td></tr><tr><td style=\"white-space:nowrap\">msi<a name=\"genomic-study-method-type-cs-msi\"> </a></td><td>Microsatellite instability testing (MSI)</td></tr><tr><td style=\"white-space:nowrap\">m-fish<a name=\"genomic-study-method-type-cs-m-fish\"> </a></td><td>Multicolor FISH (M-FISH)</td></tr><tr><td style=\"white-space:nowrap\">mutation-scanning-of-select-exons<a name=\"genomic-study-method-type-cs-mutation-scanning-of-select-exons\"> </a></td><td>Mutation scanning of select exons</td></tr><tr><td style=\"white-space:nowrap\">mutation-scanning-of-the-entire-coding-region<a name=\"genomic-study-method-type-cs-mutation-scanning-of-the-entire-coding-region\"> </a></td><td>Mutation scanning of the entire coding region</td></tr><tr><td style=\"white-space:nowrap\">protein-analysis<a name=\"genomic-study-method-type-cs-protein-analysis\"> </a></td><td>Protein analysis</td></tr><tr><td style=\"white-space:nowrap\">protein-expression<a name=\"genomic-study-method-type-cs-protein-expression\"> </a></td><td>Protein expression</td></tr><tr><td style=\"white-space:nowrap\">rna-analysis<a name=\"genomic-study-method-type-cs-rna-analysis\"> </a></td><td>RNA analysis</td></tr><tr><td style=\"white-space:nowrap\">sequence-analysis-of-select-exons<a name=\"genomic-study-method-type-cs-sequence-analysis-of-select-exons\"> </a></td><td>Sequence analysis of select exons</td></tr><tr><td style=\"white-space:nowrap\">sequence-analysis-of-the-entire-coding-region<a name=\"genomic-study-method-type-cs-sequence-analysis-of-the-entire-coding-region\"> </a></td><td>Sequence analysis of the entire coding region</td></tr><tr><td style=\"white-space:nowrap\">sister-chromatid-exchange<a name=\"genomic-study-method-type-cs-sister-chromatid-exchange\"> </a></td><td>Sister chromatid exchange</td></tr><tr><td style=\"white-space:nowrap\">targeted-variant-analysis<a name=\"genomic-study-method-type-cs-targeted-variant-analysis\"> </a></td><td>Targeted variant analysis</td></tr><tr><td style=\"white-space:nowrap\">udp<a name=\"genomic-study-method-type-cs-udp\"> </a></td><td>Uniparental disomy study (UPD)</td></tr><tr><td style=\"white-space:nowrap\">aspe<a name=\"genomic-study-method-type-cs-aspe\"> </a></td><td>Allele-specific primer extension (ASPE)</td></tr><tr><td style=\"white-space:nowrap\">alternative-splicing-detection<a name=\"genomic-study-method-type-cs-alternative-splicing-detection\"> </a></td><td>Alternative splicing detection</td></tr><tr><td style=\"white-space:nowrap\">bi-directional-sanger-sequence-analysis<a name=\"genomic-study-method-type-cs-bi-directional-sanger-sequence-analysis\"> </a></td><td>Bi-directional Sanger Sequence Analysis</td></tr><tr><td style=\"white-space:nowrap\">c-banding<a name=\"genomic-study-method-type-cs-c-banding\"> </a></td><td>C-banding</td></tr><tr><td style=\"white-space:nowrap\">cia<a name=\"genomic-study-method-type-cs-cia\"> </a></td><td>Chemiluminescent Immunoassay (CIA)</td></tr><tr><td style=\"white-space:nowrap\">chromatin-immunoprecipitation-on-chip<a name=\"genomic-study-method-type-cs-chromatin-immunoprecipitation-on-chip\"> </a></td><td>Chromatin Immunoprecipitation on ChIP</td></tr><tr><td style=\"white-space:nowrap\">comparative-genomic-hybridization<a name=\"genomic-study-method-type-cs-comparative-genomic-hybridization\"> </a></td><td>Comparative Genomic Hybridization</td></tr><tr><td style=\"white-space:nowrap\">damid<a name=\"genomic-study-method-type-cs-damid\"> </a></td><td>DamID</td></tr><tr><td style=\"white-space:nowrap\">digital-virtual-karyotyping<a name=\"genomic-study-method-type-cs-digital-virtual-karyotyping\"> </a></td><td>Digital / Virtual karyotyping</td></tr><tr><td style=\"white-space:nowrap\">digital-microfluidic-microspheres<a name=\"genomic-study-method-type-cs-digital-microfluidic-microspheres\"> </a></td><td>Digital microfluidic microspheres</td></tr><tr><td style=\"white-space:nowrap\">enzymatic-levels<a name=\"genomic-study-method-type-cs-enzymatic-levels\"> </a></td><td>Enzymatic levels</td></tr><tr><td style=\"white-space:nowrap\">enzyme-activity<a name=\"genomic-study-method-type-cs-enzyme-activity\"> </a></td><td>Enzyme activity</td></tr><tr><td style=\"white-space:nowrap\">elisa<a name=\"genomic-study-method-type-cs-elisa\"> </a></td><td>Enzyme-Linked Immunosorbent Assays (ELISA)</td></tr><tr><td style=\"white-space:nowrap\">fluorometry<a name=\"genomic-study-method-type-cs-fluorometry\"> </a></td><td>Fluorometry</td></tr><tr><td style=\"white-space:nowrap\">fusion-genes-microarrays<a name=\"genomic-study-method-type-cs-fusion-genes-microarrays\"> </a></td><td>Fusion genes microarrays</td></tr><tr><td style=\"white-space:nowrap\">g-banding<a name=\"genomic-study-method-type-cs-g-banding\"> </a></td><td>G-banding</td></tr><tr><td style=\"white-space:nowrap\">gc-ms<a name=\"genomic-study-method-type-cs-gc-ms\"> </a></td><td>Gas chromatographymass spectrometry (GC-MS)</td></tr><tr><td style=\"white-space:nowrap\">gene-expression-profiling<a name=\"genomic-study-method-type-cs-gene-expression-profiling\"> </a></td><td>Gene expression profiling</td></tr><tr><td style=\"white-space:nowrap\">gene-id<a name=\"genomic-study-method-type-cs-gene-id\"> </a></td><td>GeneID</td></tr><tr><td style=\"white-space:nowrap\">gold-nanoparticle-probe-technology<a name=\"genomic-study-method-type-cs-gold-nanoparticle-probe-technology\"> </a></td><td>Gold nanoparticle probe technology</td></tr><tr><td style=\"white-space:nowrap\">hplc<a name=\"genomic-study-method-type-cs-hplc\"> </a></td><td>High-performance liquid chromatography (HPLC)</td></tr><tr><td style=\"white-space:nowrap\">lc-ms<a name=\"genomic-study-method-type-cs-lc-ms\"> </a></td><td>Liquid chromatography mass spectrometry (LC-MS)</td></tr><tr><td style=\"white-space:nowrap\">lc-ms-ms<a name=\"genomic-study-method-type-cs-lc-ms-ms\"> </a></td><td>Liquid chromatography-tandem mass spectrometry (LC-MS/MS)</td></tr><tr><td style=\"white-space:nowrap\">metabolite-levels<a name=\"genomic-study-method-type-cs-metabolite-levels\"> </a></td><td>Metabolite levels</td></tr><tr><td style=\"white-space:nowrap\">methylation-specific-pcr<a name=\"genomic-study-method-type-cs-methylation-specific-pcr\"> </a></td><td>Methylation-specific PCR</td></tr><tr><td style=\"white-space:nowrap\">microarray<a name=\"genomic-study-method-type-cs-microarray\"> </a></td><td>Microarray</td></tr><tr><td style=\"white-space:nowrap\">mlpa<a name=\"genomic-study-method-type-cs-mlpa\"> </a></td><td>Multiplex Ligation-dependent Probe Amplification (MLPA)</td></tr><tr><td style=\"white-space:nowrap\">ngs-mps<a name=\"genomic-study-method-type-cs-ngs-mps\"> </a></td><td>Next-Generation (NGS)/Massively parallel sequencing (MPS)</td></tr><tr><td style=\"white-space:nowrap\">ola<a name=\"genomic-study-method-type-cs-ola\"> </a></td><td>Oligonucleotide Ligation Assay (OLA)</td></tr><tr><td style=\"white-space:nowrap\">oligonucleotide-hybridization-based-dna-sequencing<a name=\"genomic-study-method-type-cs-oligonucleotide-hybridization-based-dna-sequencing\"> </a></td><td>Oligonucleotide hybridization-based DNA sequencing</td></tr><tr><td style=\"white-space:nowrap\">other<a name=\"genomic-study-method-type-cs-other\"> </a></td><td>Other</td></tr><tr><td style=\"white-space:nowrap\">pcr<a name=\"genomic-study-method-type-cs-pcr\"> </a></td><td>PCR</td></tr><tr><td style=\"white-space:nowrap\">pcr-with-allele-specific-hybridization<a name=\"genomic-study-method-type-cs-pcr-with-allele-specific-hybridization\"> </a></td><td>PCR with allele specific hybridization</td></tr><tr><td style=\"white-space:nowrap\">pcr-rflp-with-southern-hybridization<a name=\"genomic-study-method-type-cs-pcr-rflp-with-southern-hybridization\"> </a></td><td>PCR-RFLP with Southern hybridization</td></tr><tr><td style=\"white-space:nowrap\">protein-truncation-test<a name=\"genomic-study-method-type-cs-protein-truncation-test\"> </a></td><td>Protein truncation test</td></tr><tr><td style=\"white-space:nowrap\">pyrosequencing<a name=\"genomic-study-method-type-cs-pyrosequencing\"> </a></td><td>Pyrosequencing</td></tr><tr><td style=\"white-space:nowrap\">q-banding<a name=\"genomic-study-method-type-cs-q-banding\"> </a></td><td>Q-banding</td></tr><tr><td style=\"white-space:nowrap\">qpcr<a name=\"genomic-study-method-type-cs-qpcr\"> </a></td><td>Quantitative PCR (qPCR)</td></tr><tr><td style=\"white-space:nowrap\">r-banding<a name=\"genomic-study-method-type-cs-r-banding\"> </a></td><td>R-banding</td></tr><tr><td style=\"white-space:nowrap\">rflp<a name=\"genomic-study-method-type-cs-rflp\"> </a></td><td>RFLP</td></tr><tr><td style=\"white-space:nowrap\">rt-lamp<a name=\"genomic-study-method-type-cs-rt-lamp\"> </a></td><td>RT-LAMP</td></tr><tr><td style=\"white-space:nowrap\">rt-pcr<a name=\"genomic-study-method-type-cs-rt-pcr\"> </a></td><td>RT-PCR</td></tr><tr><td style=\"white-space:nowrap\">rt-pcr-with-gel-analysis<a name=\"genomic-study-method-type-cs-rt-pcr-with-gel-analysis\"> </a></td><td>RT-PCR with gel analysis</td></tr><tr><td style=\"white-space:nowrap\">rt-qpcr<a name=\"genomic-study-method-type-cs-rt-qpcr\"> </a></td><td>RT-qPCR</td></tr><tr><td style=\"white-space:nowrap\">snp-detection<a name=\"genomic-study-method-type-cs-snp-detection\"> </a></td><td>SNP Detection</td></tr><tr><td style=\"white-space:nowrap\">silver-staining<a name=\"genomic-study-method-type-cs-silver-staining\"> </a></td><td>Silver staining</td></tr><tr><td style=\"white-space:nowrap\">sky<a name=\"genomic-study-method-type-cs-sky\"> </a></td><td>Spectral karyotyping (SKY)</td></tr><tr><td style=\"white-space:nowrap\">t-banding<a name=\"genomic-study-method-type-cs-t-banding\"> </a></td><td>T-banding</td></tr><tr><td style=\"white-space:nowrap\">ms-ms<a name=\"genomic-study-method-type-cs-ms-ms\"> </a></td><td>Tandem mass spectrometry (MS/MS)</td></tr><tr><td style=\"white-space:nowrap\">tetra-nucleotide-repeat-by-pcr-or-southern-blot<a name=\"genomic-study-method-type-cs-tetra-nucleotide-repeat-by-pcr-or-southern-blot\"> </a></td><td>Tetra-nucleotide repeat by PCR or Southern Blot</td></tr><tr><td style=\"white-space:nowrap\">tiling-arrays<a name=\"genomic-study-method-type-cs-tiling-arrays\"> </a></td><td>Tiling Arrays</td></tr><tr><td style=\"white-space:nowrap\">trinucleotide-repeat-by-pcr-or-southern-blot<a name=\"genomic-study-method-type-cs-trinucleotide-repeat-by-pcr-or-southern-blot\"> </a></td><td>Trinucleotide repeat by PCR or Southern Blot</td></tr><tr><td style=\"white-space:nowrap\">uni-directional-sanger-sequencing<a name=\"genomic-study-method-type-cs-uni-directional-sanger-sequencing\"> </a></td><td>Uni-directional Sanger sequencing</td></tr></table></div>",
    "status" : "generated"
  }
}