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FHIR IG Statistics: CodeSystem/genomic-study-method-type-cs

Packagehl7.fhir.uv.genomics-reporting
TypeCodeSystem
Idgenomic-study-method-type-cs
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/CodeSystem-genomic-study-method-type-cs.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs
Version4.0.0-ballot
Statusactive
Date2025-06-24T17:31:37+00:00
NameGenomicStudyMethodTypeCS
TitleGenomic Study Method Type CodeSystem
Realmuv
Authorityhl7
DescriptionBackport of http://hl7.org/fhir/genomicstudy-methodtype
Contentcomplete

Resources that use this resource

ValueSet
genomic-study-method-type-vsGenomic Study Method Type ValueSet
mii-vs-mtb-genomic-analysis-method-typeMII VS Genomic Analysis Method Type

Resources that this resource uses

No resources found


Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: CodeSystem genomic-study-method-type-cs

This case-sensitive code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs defines the following codes:

CodeDisplayDefinition
biochemical-genetics Biochemical GeneticsBiochemical Genetics
cytogenetics CytogeneticsCytogenetics
molecular-genetics Molecular GeneticsMolecular Genetics
analyte AnalyteAnalyte
chromosome-breakage-studies Chromosome breakage studiesChromosome breakage studies
deletion-duplication-analysis Deletion/duplication analysisDeletion/duplication analysis
detection-of-homozygosity Detection of homozygosityDetection of homozygosity
enzyme-assay Enzyme assayEnzyme assay
fish-interphase FISH-interphaseFISH-interphase
fish-metaphase FISH-metaphaseFISH-metaphase
flow-cytometry Flow cytometryFlow cytometry
fish Fluorescence in situ hybridization (FISH)Fluorescence in situ hybridization (FISH)
immunohistochemistry ImmunohistochemistryImmunohistochemistry
karyotyping KaryotypingKaryotyping
linkage-analysis Linkage analysisLinkage analysis
methylation-analysis Methylation analysisMethylation analysis
msi Microsatellite instability testing (MSI)Microsatellite instability testing (MSI)
m-fish Multicolor FISH (M-FISH)Multicolor FISH (M-FISH)
mutation-scanning-of-select-exons Mutation scanning of select exonsMutation scanning of select exons
mutation-scanning-of-the-entire-coding-region Mutation scanning of the entire coding regionMutation scanning of the entire coding region
protein-analysis Protein analysisProtein analysis
protein-expression Protein expressionProtein expression
rna-analysis RNA analysisRNA analysis
sequence-analysis-of-select-exons Sequence analysis of select exonsSequence analysis of select exons
sequence-analysis-of-the-entire-coding-region Sequence analysis of the entire coding regionSequence analysis of the entire coding region
sister-chromatid-exchange Sister chromatid exchangeSister chromatid exchange
targeted-variant-analysis Targeted variant analysisTargeted variant analysis
udp Uniparental disomy study (UPD)Uniparental disomy study (UPD)
aspe Allele-specific primer extension (ASPE)Allele-specific primer extension (ASPE)
alternative-splicing-detection Alternative splicing detectionAlternative splicing detection
bi-directional-sanger-sequence-analysis Bi-directional Sanger Sequence AnalysisBi-directional Sanger Sequence Analysis
c-banding C-bandingC-banding
cia Chemiluminescent Immunoassay (CIA)Chemiluminescent Immunoassay (CIA)
chromatin-immunoprecipitation-on-chip Chromatin Immunoprecipitation on ChIPChromatin Immunoprecipitation on ChIP
comparative-genomic-hybridization Comparative Genomic HybridizationComparative Genomic Hybridization
damid DamIDDamID
digital-virtual-karyotyping Digital / Virtual karyotypingDigital / Virtual karyotyping
digital-microfluidic-microspheres Digital microfluidic microspheresDigital microfluidic microspheres
enzymatic-levels Enzymatic levelsEnzymatic levels
enzyme-activity Enzyme activityEnzyme activity
elisa Enzyme-Linked Immunosorbent Assays (ELISA)Enzyme-Linked Immunosorbent Assays (ELISA)
fluorometry FluorometryFluorometry
fusion-genes-microarrays Fusion genes microarraysFusion genes microarrays
g-banding G-bandingG-banding
gc-ms Gas chromatographymass spectrometry (GC-MS)Gas chromatographymass spectrometry (GC-MS)
gene-expression-profiling Gene expression profilingGene expression profiling
gene-id GeneIDGeneID
gold-nanoparticle-probe-technology Gold nanoparticle probe technologyGold nanoparticle probe technology
hplc High-performance liquid chromatography (HPLC)High-performance liquid chromatography (HPLC)
lc-ms Liquid chromatography mass spectrometry (LC-MS)Liquid chromatography mass spectrometry (LC-MS)
lc-ms-ms Liquid chromatography-tandem mass spectrometry (LC-MS/MS)Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
metabolite-levels Metabolite levelsMetabolite levels
methylation-specific-pcr Methylation-specific PCRMethylation-specific PCR
microarray MicroarrayMicroarray
mlpa Multiplex Ligation-dependent Probe Amplification (MLPA)Multiplex Ligation-dependent Probe Amplification (MLPA)
ngs-mps Next-Generation (NGS)/Massively parallel sequencing (MPS)Next-Generation (NGS)/Massively parallel sequencing (MPS)
ola Oligonucleotide Ligation Assay (OLA)Oligonucleotide Ligation Assay (OLA)
oligonucleotide-hybridization-based-dna-sequencing Oligonucleotide hybridization-based DNA sequencingOligonucleotide hybridization-based DNA sequencing
other OtherOther
pcr PCRPCR
pcr-with-allele-specific-hybridization PCR with allele specific hybridizationPCR with allele specific hybridization
pcr-rflp-with-southern-hybridization PCR-RFLP with Southern hybridizationPCR-RFLP with Southern hybridization
protein-truncation-test Protein truncation testProtein truncation test
pyrosequencing PyrosequencingPyrosequencing
q-banding Q-bandingQ-banding
qpcr Quantitative PCR (qPCR)Quantitative PCR (qPCR)
r-banding R-bandingR-banding
rflp RFLPRFLP
rt-lamp RT-LAMPRT-LAMP
rt-pcr RT-PCRRT-PCR
rt-pcr-with-gel-analysis RT-PCR with gel analysisRT-PCR with gel analysis
rt-qpcr RT-qPCRRT-qPCR
snp-detection SNP DetectionSNP Detection
silver-staining Silver stainingSilver staining
sky Spectral karyotyping (SKY)Spectral karyotyping (SKY)
t-banding T-bandingT-banding
ms-ms Tandem mass spectrometry (MS/MS)Tandem mass spectrometry (MS/MS)
tetra-nucleotide-repeat-by-pcr-or-southern-blot Tetra-nucleotide repeat by PCR or Southern BlotTetra-nucleotide repeat by PCR or Southern Blot
tiling-arrays Tiling ArraysTiling Arrays
trinucleotide-repeat-by-pcr-or-southern-blot Trinucleotide repeat by PCR or Southern BlotTrinucleotide repeat by PCR or Southern Blot
uni-directional-sanger-sequencing Uni-directional Sanger sequencingUni-directional Sanger sequencing

Source

{
  "resourceType": "CodeSystem",
  "id": "genomic-study-method-type-cs",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "cg"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode": "informative",
      "_valueCode": {
        "extension": [
          {
            "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
          }
        ]
      }
    }
  ],
  "url": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs",
  "version": "4.0.0-ballot",
  "name": "GenomicStudyMethodTypeCS",
  "title": "Genomic Study Method Type CodeSystem",
  "status": "active",
  "experimental": true,
  "date": "2025-06-24T17:31:37+00:00",
  "publisher": "HL7 International / Clinical Genomics",
  "contact": [
    {
      "name": "HL7 International / Clinical Genomics",
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        },
        {
          "system": "email",
          "value": "cg@lists.HL7.org"
        }
      ]
    }
  ],
  "description": "Backport of http://hl7.org/fhir/genomicstudy-methodtype",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code": "001",
          "display": "World"
        }
      ]
    }
  ],
  "caseSensitive": true,
  "content": "complete",
  "count": 81,
  "concept": [
    {
      "code": "biochemical-genetics",
      "display": "Biochemical Genetics",
      "definition": "Biochemical Genetics"
    },
    {
      "code": "cytogenetics",
      "display": "Cytogenetics",
      "definition": "Cytogenetics"
    },
    {
      "code": "molecular-genetics",
      "display": "Molecular Genetics",
      "definition": "Molecular Genetics"
    },
    {
      "code": "analyte",
      "display": "Analyte",
      "definition": "Analyte"
    },
    {
      "code": "chromosome-breakage-studies",
      "display": "Chromosome breakage studies",
      "definition": "Chromosome breakage studies"
    },
    {
      "code": "deletion-duplication-analysis",
      "display": "Deletion/duplication analysis",
      "definition": "Deletion/duplication analysis"
    },
    {
      "code": "detection-of-homozygosity",
      "display": "Detection of homozygosity",
      "definition": "Detection of homozygosity"
    },
    {
      "code": "enzyme-assay",
      "display": "Enzyme assay",
      "definition": "Enzyme assay"
    },
    {
      "code": "fish-interphase",
      "display": "FISH-interphase",
      "definition": "FISH-interphase"
    },
    {
      "code": "fish-metaphase",
      "display": "FISH-metaphase",
      "definition": "FISH-metaphase"
    },
    {
      "code": "flow-cytometry",
      "display": "Flow cytometry",
      "definition": "Flow cytometry"
    },
    {
      "code": "fish",
      "display": "Fluorescence in situ hybridization (FISH)",
      "definition": "Fluorescence in situ hybridization (FISH)"
    },
    {
      "code": "immunohistochemistry",
      "display": "Immunohistochemistry",
      "definition": "Immunohistochemistry"
    },
    {
      "code": "karyotyping",
      "display": "Karyotyping",
      "definition": "Karyotyping"
    },
    {
      "code": "linkage-analysis",
      "display": "Linkage analysis",
      "definition": "Linkage analysis"
    },
    {
      "code": "methylation-analysis",
      "display": "Methylation analysis",
      "definition": "Methylation analysis"
    },
    {
      "code": "msi",
      "display": "Microsatellite instability testing (MSI)",
      "definition": "Microsatellite instability testing (MSI)"
    },
    {
      "code": "m-fish",
      "display": "Multicolor FISH (M-FISH)",
      "definition": "Multicolor FISH (M-FISH)"
    },
    {
      "code": "mutation-scanning-of-select-exons",
      "display": "Mutation scanning of select exons",
      "definition": "Mutation scanning of select exons"
    },
    {
      "code": "mutation-scanning-of-the-entire-coding-region",
      "display": "Mutation scanning of the entire coding region",
      "definition": "Mutation scanning of the entire coding region"
    },
    {
      "code": "protein-analysis",
      "display": "Protein analysis",
      "definition": "Protein analysis"
    },
    {
      "code": "protein-expression",
      "display": "Protein expression",
      "definition": "Protein expression"
    },
    {
      "code": "rna-analysis",
      "display": "RNA analysis",
      "definition": "RNA analysis"
    },
    {
      "code": "sequence-analysis-of-select-exons",
      "display": "Sequence analysis of select exons",
      "definition": "Sequence analysis of select exons"
    },
    {
      "code": "sequence-analysis-of-the-entire-coding-region",
      "display": "Sequence analysis of the entire coding region",
      "definition": "Sequence analysis of the entire coding region"
    },
    {
      "code": "sister-chromatid-exchange",
      "display": "Sister chromatid exchange",
      "definition": "Sister chromatid exchange"
    },
    {
      "code": "targeted-variant-analysis",
      "display": "Targeted variant analysis",
      "definition": "Targeted variant analysis"
    },
    {
      "code": "udp",
      "display": "Uniparental disomy study (UPD)",
      "definition": "Uniparental disomy study (UPD)"
    },
    {
      "code": "aspe",
      "display": "Allele-specific primer extension (ASPE)",
      "definition": "Allele-specific primer extension (ASPE)"
    },
    {
      "code": "alternative-splicing-detection",
      "display": "Alternative splicing detection",
      "definition": "Alternative splicing detection"
    },
    {
      "code": "bi-directional-sanger-sequence-analysis",
      "display": "Bi-directional Sanger Sequence Analysis",
      "definition": "Bi-directional Sanger Sequence Analysis"
    },
    {
      "code": "c-banding",
      "display": "C-banding",
      "definition": "C-banding"
    },
    {
      "code": "cia",
      "display": "Chemiluminescent Immunoassay (CIA)",
      "definition": "Chemiluminescent Immunoassay (CIA)"
    },
    {
      "code": "chromatin-immunoprecipitation-on-chip",
      "display": "Chromatin Immunoprecipitation on ChIP",
      "definition": "Chromatin Immunoprecipitation on ChIP"
    },
    {
      "code": "comparative-genomic-hybridization",
      "display": "Comparative Genomic Hybridization",
      "definition": "Comparative Genomic Hybridization"
    },
    {
      "code": "damid",
      "display": "DamID",
      "definition": "DamID"
    },
    {
      "code": "digital-virtual-karyotyping",
      "display": "Digital / Virtual karyotyping",
      "definition": "Digital / Virtual karyotyping"
    },
    {
      "code": "digital-microfluidic-microspheres",
      "display": "Digital microfluidic microspheres",
      "definition": "Digital microfluidic microspheres"
    },
    {
      "code": "enzymatic-levels",
      "display": "Enzymatic levels",
      "definition": "Enzymatic levels"
    },
    {
      "code": "enzyme-activity",
      "display": "Enzyme activity",
      "definition": "Enzyme activity"
    },
    {
      "code": "elisa",
      "display": "Enzyme-Linked Immunosorbent Assays (ELISA)",
      "definition": "Enzyme-Linked Immunosorbent Assays (ELISA)"
    },
    {
      "code": "fluorometry",
      "display": "Fluorometry",
      "definition": "Fluorometry"
    },
    {
      "code": "fusion-genes-microarrays",
      "display": "Fusion genes microarrays",
      "definition": "Fusion genes microarrays"
    },
    {
      "code": "g-banding",
      "display": "G-banding",
      "definition": "G-banding"
    },
    {
      "code": "gc-ms",
      "display": "Gas chromatographymass spectrometry (GC-MS)",
      "definition": "Gas chromatographymass spectrometry (GC-MS)"
    },
    {
      "code": "gene-expression-profiling",
      "display": "Gene expression profiling",
      "definition": "Gene expression profiling"
    },
    {
      "code": "gene-id",
      "display": "GeneID",
      "definition": "GeneID"
    },
    {
      "code": "gold-nanoparticle-probe-technology",
      "display": "Gold nanoparticle probe technology",
      "definition": "Gold nanoparticle probe technology"
    },
    {
      "code": "hplc",
      "display": "High-performance liquid chromatography (HPLC)",
      "definition": "High-performance liquid chromatography (HPLC)"
    },
    {
      "code": "lc-ms",
      "display": "Liquid chromatography mass spectrometry (LC-MS)",
      "definition": "Liquid chromatography mass spectrometry (LC-MS)"
    },
    {
      "code": "lc-ms-ms",
      "display": "Liquid chromatography-tandem mass spectrometry (LC-MS/MS)",
      "definition": "Liquid chromatography-tandem mass spectrometry (LC-MS/MS)"
    },
    {
      "code": "metabolite-levels",
      "display": "Metabolite levels",
      "definition": "Metabolite levels"
    },
    {
      "code": "methylation-specific-pcr",
      "display": "Methylation-specific PCR",
      "definition": "Methylation-specific PCR"
    },
    {
      "code": "microarray",
      "display": "Microarray",
      "definition": "Microarray"
    },
    {
      "code": "mlpa",
      "display": "Multiplex Ligation-dependent Probe Amplification (MLPA)",
      "definition": "Multiplex Ligation-dependent Probe Amplification (MLPA)"
    },
    {
      "code": "ngs-mps",
      "display": "Next-Generation (NGS)/Massively parallel sequencing (MPS)",
      "definition": "Next-Generation (NGS)/Massively parallel sequencing (MPS)"
    },
    {
      "code": "ola",
      "display": "Oligonucleotide Ligation Assay (OLA)",
      "definition": "Oligonucleotide Ligation Assay (OLA)"
    },
    {
      "code": "oligonucleotide-hybridization-based-dna-sequencing",
      "display": "Oligonucleotide hybridization-based DNA sequencing",
      "definition": "Oligonucleotide hybridization-based DNA sequencing"
    },
    {
      "code": "other",
      "display": "Other",
      "definition": "Other"
    },
    {
      "code": "pcr",
      "display": "PCR",
      "definition": "PCR"
    },
    {
      "code": "pcr-with-allele-specific-hybridization",
      "display": "PCR with allele specific hybridization",
      "definition": "PCR with allele specific hybridization"
    },
    {
      "code": "pcr-rflp-with-southern-hybridization",
      "display": "PCR-RFLP with Southern hybridization",
      "definition": "PCR-RFLP with Southern hybridization"
    },
    {
      "code": "protein-truncation-test",
      "display": "Protein truncation test",
      "definition": "Protein truncation test"
    },
    {
      "code": "pyrosequencing",
      "display": "Pyrosequencing",
      "definition": "Pyrosequencing"
    },
    {
      "code": "q-banding",
      "display": "Q-banding",
      "definition": "Q-banding"
    },
    {
      "code": "qpcr",
      "display": "Quantitative PCR (qPCR)",
      "definition": "Quantitative PCR (qPCR)"
    },
    {
      "code": "r-banding",
      "display": "R-banding",
      "definition": "R-banding"
    },
    {
      "code": "rflp",
      "display": "RFLP",
      "definition": "RFLP"
    },
    {
      "code": "rt-lamp",
      "display": "RT-LAMP",
      "definition": "RT-LAMP"
    },
    {
      "code": "rt-pcr",
      "display": "RT-PCR",
      "definition": "RT-PCR"
    },
    {
      "code": "rt-pcr-with-gel-analysis",
      "display": "RT-PCR with gel analysis",
      "definition": "RT-PCR with gel analysis"
    },
    {
      "code": "rt-qpcr",
      "display": "RT-qPCR",
      "definition": "RT-qPCR"
    },
    {
      "code": "snp-detection",
      "display": "SNP Detection",
      "definition": "SNP Detection"
    },
    {
      "code": "silver-staining",
      "display": "Silver staining",
      "definition": "Silver staining"
    },
    {
      "code": "sky",
      "display": "Spectral karyotyping (SKY)",
      "definition": "Spectral karyotyping (SKY)"
    },
    {
      "code": "t-banding",
      "display": "T-banding",
      "definition": "T-banding"
    },
    {
      "code": "ms-ms",
      "display": "Tandem mass spectrometry (MS/MS)",
      "definition": "Tandem mass spectrometry (MS/MS)"
    },
    {
      "code": "tetra-nucleotide-repeat-by-pcr-or-southern-blot",
      "display": "Tetra-nucleotide repeat by PCR or Southern Blot",
      "definition": "Tetra-nucleotide repeat by PCR or Southern Blot"
    },
    {
      "code": "tiling-arrays",
      "display": "Tiling Arrays",
      "definition": "Tiling Arrays"
    },
    {
      "code": "trinucleotide-repeat-by-pcr-or-southern-blot",
      "display": "Trinucleotide repeat by PCR or Southern Blot",
      "definition": "Trinucleotide repeat by PCR or Southern Blot"
    },
    {
      "code": "uni-directional-sanger-sequencing",
      "display": "Uni-directional Sanger sequencing",
      "definition": "Uni-directional Sanger sequencing"
    }
  ]
}