Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build
Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
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@prefix fhir: <http://hl7.org/fhir/> . @prefix owl: <http://www.w3.org/2002/07/owl#> . @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> . @prefix xsd: <http://www.w3.org/2001/XMLSchema#> . # - resource ------------------------------------------------------------------- <http://hl7.org/fhir/CodeSystem/genomic-study-method-type-cs> a fhir:CodeSystem ; fhir:nodeRole fhir:treeRoot ; fhir:Resource.id [ fhir:value "genomic-study-method-type-cs"] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.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><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><td><b>Definition</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><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><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><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><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><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><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><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><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><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><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><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><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><td>Immunohistochemistry</td></tr><tr><td style=\"white-space:nowrap\">karyotyping<a name=\"genomic-study-method-type-cs-karyotyping\"> </a></td><td>Karyotyping</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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><td>Other</td></tr><tr><td style=\"white-space:nowrap\">pcr<a name=\"genomic-study-method-type-cs-pcr\"> </a></td><td>PCR</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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><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><td>Uni-directional Sanger sequencing</td></tr></table></div>" ] ; fhir:DomainResource.extension [ fhir:index 0 ; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg" ] ; fhir:Extension.valueCode [ fhir:value "cg" ] ], [ fhir:index 1 ; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status" ] ; fhir:Extension.valueCode [ fhir:value "informative" ; fhir:Element.extension [ fhir:index 0 ; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ; fhir:Extension.valueCanonical [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting> ] ] ] ] ; fhir:CodeSystem.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs"] ; fhir:CodeSystem.version [ fhir:value "4.0.0-cibuild"] ; fhir:CodeSystem.name [ fhir:value "GenomicStudyMethodTypeCS"] ; fhir:CodeSystem.title [ fhir:value "Genomic Study Method Type CodeSystem"] ; fhir:CodeSystem.status [ fhir:value "active"] ; fhir:CodeSystem.experimental [ fhir:value "true"^^xsd:boolean] ; fhir:CodeSystem.date [ fhir:value "2026-09-21T13:24:35+00:00"^^xsd:dateTime] ; fhir:CodeSystem.publisher [ fhir:value "HL7 International / Clinical Genomics"] ; fhir:CodeSystem.contact [ fhir:index 0 ; fhir:ContactDetail.name [ fhir:value "HL7 International / Clinical Genomics" ] ; fhir:ContactDetail.telecom [ fhir:index 0 ; fhir:ContactPoint.system [ fhir:value "url" ] ; fhir:ContactPoint.value [ fhir:value "http://www.hl7.org/Special/committees/clingenomics" ] ], [ fhir:index 1 ; fhir:ContactPoint.system [ fhir:value "email" ] ; fhir:ContactPoint.value [ fhir:value "cg@lists.HL7.org" ] ] ] ; fhir:CodeSystem.description [ fhir:value "Backport of http://hl7.org/fhir/genomicstudy-methodtype"] ; fhir:CodeSystem.jurisdiction [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://unstats.un.org/unsd/methods/m49/m49.htm" ] ; fhir:Coding.code [ fhir:value "001" ] ; fhir:Coding.display [ fhir:value "World" ] ] ] ; fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean] ; fhir:CodeSystem.content [ fhir:value "complete"] ; fhir:CodeSystem.count [ fhir:value "81"^^xsd:nonNegativeInteger] ; fhir:CodeSystem.concept [ fhir:index 0 ; fhir:CodeSystem.concept.code [ fhir:value "biochemical-genetics" ] ; fhir:CodeSystem.concept.display [ fhir:value "Biochemical Genetics" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Biochemical Genetics" ] ], [ fhir:index 1 ; fhir:CodeSystem.concept.code [ fhir:value "cytogenetics" ] ; fhir:CodeSystem.concept.display [ fhir:value "Cytogenetics" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Cytogenetics" ] ], [ fhir:index 2 ; fhir:CodeSystem.concept.code [ fhir:value "molecular-genetics" ] ; fhir:CodeSystem.concept.display [ fhir:value "Molecular Genetics" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Molecular Genetics" ] ], [ fhir:index 3 ; fhir:CodeSystem.concept.code [ fhir:value "analyte" ] ; fhir:CodeSystem.concept.display [ fhir:value "Analyte" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Analyte" ] ], [ fhir:index 4 ; fhir:CodeSystem.concept.code [ fhir:value "chromosome-breakage-studies" ] ; fhir:CodeSystem.concept.display [ fhir:value "Chromosome breakage studies" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Chromosome breakage studies" ] ], [ fhir:index 5 ; fhir:CodeSystem.concept.code [ fhir:value "deletion-duplication-analysis" ] ; fhir:CodeSystem.concept.display [ fhir:value "Deletion/duplication analysis" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Deletion/duplication analysis" ] ], [ fhir:index 6 ; fhir:CodeSystem.concept.code [ fhir:value "detection-of-homozygosity" ] ; fhir:CodeSystem.concept.display [ fhir:value "Detection of homozygosity" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Detection of homozygosity" ] ], [ fhir:index 7 ; fhir:CodeSystem.concept.code [ fhir:value "enzyme-assay" ] ; fhir:CodeSystem.concept.display [ fhir:value "Enzyme assay" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Enzyme assay" ] ], [ fhir:index 8 ; fhir:CodeSystem.concept.code [ fhir:value "fish-interphase" ] ; fhir:CodeSystem.concept.display [ fhir:value "FISH-interphase" ] ; fhir:CodeSystem.concept.definition [ fhir:value "FISH-interphase" ] ], [ fhir:index 9 ; fhir:CodeSystem.concept.code [ fhir:value "fish-metaphase" ] ; fhir:CodeSystem.concept.display [ fhir:value "FISH-metaphase" ] ; fhir:CodeSystem.concept.definition [ fhir:value "FISH-metaphase" ] ], [ fhir:index 10 ; fhir:CodeSystem.concept.code [ fhir:value "flow-cytometry" ] ; fhir:CodeSystem.concept.display [ fhir:value "Flow cytometry" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Flow cytometry" ] ], [ fhir:index 11 ; fhir:CodeSystem.concept.code [ fhir:value "fish" ] ; fhir:CodeSystem.concept.display [ fhir:value "Fluorescence in situ hybridization (FISH)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Fluorescence in situ hybridization (FISH)" ] ], [ fhir:index 12 ; fhir:CodeSystem.concept.code [ fhir:value "immunohistochemistry" ] ; fhir:CodeSystem.concept.display [ fhir:value "Immunohistochemistry" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Immunohistochemistry" ] ], [ fhir:index 13 ; fhir:CodeSystem.concept.code [ fhir:value "karyotyping" ] ; fhir:CodeSystem.concept.display [ fhir:value "Karyotyping" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Karyotyping" ] ], [ fhir:index 14 ; fhir:CodeSystem.concept.code [ fhir:value "linkage-analysis" ] ; fhir:CodeSystem.concept.display [ fhir:value "Linkage analysis" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Linkage analysis" ] ], [ fhir:index 15 ; fhir:CodeSystem.concept.code [ fhir:value "methylation-analysis" ] ; fhir:CodeSystem.concept.display [ fhir:value "Methylation analysis" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Methylation analysis" ] ], [ fhir:index 16 ; fhir:CodeSystem.concept.code [ fhir:value "msi" ] ; fhir:CodeSystem.concept.display [ fhir:value "Microsatellite instability testing (MSI)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Microsatellite instability testing (MSI)" ] ], [ fhir:index 17 ; fhir:CodeSystem.concept.code [ fhir:value "m-fish" ] ; fhir:CodeSystem.concept.display [ fhir:value "Multicolor FISH (M-FISH)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Multicolor FISH (M-FISH)" ] ], [ fhir:index 18 ; fhir:CodeSystem.concept.code [ fhir:value "mutation-scanning-of-select-exons" ] ; fhir:CodeSystem.concept.display [ fhir:value "Mutation scanning of select exons" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Mutation scanning of select exons" ] ], [ fhir:index 19 ; fhir:CodeSystem.concept.code [ fhir:value "mutation-scanning-of-the-entire-coding-region" ] ; fhir:CodeSystem.concept.display [ fhir:value "Mutation scanning of the entire coding region" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Mutation scanning of the entire coding region" ] ], [ fhir:index 20 ; fhir:CodeSystem.concept.code [ fhir:value "protein-analysis" ] ; fhir:CodeSystem.concept.display [ fhir:value "Protein analysis" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Protein analysis" ] ], [ fhir:index 21 ; fhir:CodeSystem.concept.code [ fhir:value "protein-expression" ] ; fhir:CodeSystem.concept.display [ fhir:value "Protein expression" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Protein expression" ] ], [ fhir:index 22 ; fhir:CodeSystem.concept.code [ fhir:value "rna-analysis" ] ; fhir:CodeSystem.concept.display [ fhir:value "RNA analysis" ] ; fhir:CodeSystem.concept.definition [ fhir:value "RNA analysis" ] ], [ fhir:index 23 ; fhir:CodeSystem.concept.code [ fhir:value "sequence-analysis-of-select-exons" ] ; fhir:CodeSystem.concept.display [ fhir:value "Sequence analysis of select exons" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Sequence analysis of select exons" ] ], [ fhir:index 24 ; fhir:CodeSystem.concept.code [ fhir:value "sequence-analysis-of-the-entire-coding-region" ] ; fhir:CodeSystem.concept.display [ fhir:value "Sequence analysis of the entire coding region" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Sequence analysis of the entire coding region" ] ], [ fhir:index 25 ; fhir:CodeSystem.concept.code [ fhir:value "sister-chromatid-exchange" ] ; fhir:CodeSystem.concept.display [ fhir:value "Sister chromatid exchange" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Sister chromatid exchange" ] ], [ fhir:index 26 ; fhir:CodeSystem.concept.code [ fhir:value "targeted-variant-analysis" ] ; fhir:CodeSystem.concept.display [ fhir:value "Targeted variant analysis" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Targeted variant analysis" ] ], [ fhir:index 27 ; fhir:CodeSystem.concept.code [ fhir:value "udp" ] ; fhir:CodeSystem.concept.display [ fhir:value "Uniparental disomy study (UPD)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Uniparental disomy study (UPD)" ] ], [ fhir:index 28 ; fhir:CodeSystem.concept.code [ fhir:value "aspe" ] ; fhir:CodeSystem.concept.display [ fhir:value "Allele-specific primer extension (ASPE)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Allele-specific primer extension (ASPE)" ] ], [ fhir:index 29 ; fhir:CodeSystem.concept.code [ fhir:value "alternative-splicing-detection" ] ; fhir:CodeSystem.concept.display [ fhir:value "Alternative splicing detection" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Alternative splicing detection" ] ], [ fhir:index 30 ; fhir:CodeSystem.concept.code [ fhir:value "bi-directional-sanger-sequence-analysis" ] ; fhir:CodeSystem.concept.display [ fhir:value "Bi-directional Sanger Sequence Analysis" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Bi-directional Sanger Sequence Analysis" ] ], [ fhir:index 31 ; fhir:CodeSystem.concept.code [ fhir:value "c-banding" ] ; fhir:CodeSystem.concept.display [ fhir:value "C-banding" ] ; fhir:CodeSystem.concept.definition [ fhir:value "C-banding" ] ], [ fhir:index 32 ; fhir:CodeSystem.concept.code [ fhir:value "cia" ] ; fhir:CodeSystem.concept.display [ fhir:value "Chemiluminescent Immunoassay (CIA)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Chemiluminescent Immunoassay (CIA)" ] ], [ fhir:index 33 ; fhir:CodeSystem.concept.code [ fhir:value "chromatin-immunoprecipitation-on-chip" ] ; fhir:CodeSystem.concept.display [ fhir:value "Chromatin Immunoprecipitation on ChIP" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Chromatin Immunoprecipitation on ChIP" ] ], [ fhir:index 34 ; fhir:CodeSystem.concept.code [ fhir:value "comparative-genomic-hybridization" ] ; fhir:CodeSystem.concept.display [ fhir:value "Comparative Genomic Hybridization" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Comparative Genomic Hybridization" ] ], [ fhir:index 35 ; fhir:CodeSystem.concept.code [ fhir:value "damid" ] ; fhir:CodeSystem.concept.display [ fhir:value "DamID" ] ; fhir:CodeSystem.concept.definition [ fhir:value "DamID" ] ], [ fhir:index 36 ; fhir:CodeSystem.concept.code [ fhir:value "digital-virtual-karyotyping" ] ; fhir:CodeSystem.concept.display [ fhir:value "Digital / Virtual karyotyping" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Digital / Virtual karyotyping" ] ], [ fhir:index 37 ; fhir:CodeSystem.concept.code [ fhir:value "digital-microfluidic-microspheres" ] ; fhir:CodeSystem.concept.display [ fhir:value "Digital microfluidic microspheres" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Digital microfluidic microspheres" ] ], [ fhir:index 38 ; fhir:CodeSystem.concept.code [ fhir:value "enzymatic-levels" ] ; fhir:CodeSystem.concept.display [ fhir:value "Enzymatic levels" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Enzymatic levels" ] ], [ fhir:index 39 ; fhir:CodeSystem.concept.code [ fhir:value "enzyme-activity" ] ; fhir:CodeSystem.concept.display [ fhir:value "Enzyme activity" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Enzyme activity" ] ], [ fhir:index 40 ; fhir:CodeSystem.concept.code [ fhir:value "elisa" ] ; fhir:CodeSystem.concept.display [ fhir:value "Enzyme-Linked Immunosorbent Assays (ELISA)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Enzyme-Linked Immunosorbent Assays (ELISA)" ] ], [ fhir:index 41 ; fhir:CodeSystem.concept.code [ fhir:value "fluorometry" ] ; fhir:CodeSystem.concept.display [ fhir:value "Fluorometry" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Fluorometry" ] ], [ fhir:index 42 ; fhir:CodeSystem.concept.code [ fhir:value "fusion-genes-microarrays" ] ; fhir:CodeSystem.concept.display [ fhir:value "Fusion genes microarrays" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Fusion genes microarrays" ] ], [ fhir:index 43 ; fhir:CodeSystem.concept.code [ fhir:value "g-banding" ] ; fhir:CodeSystem.concept.display [ fhir:value "G-banding" ] ; fhir:CodeSystem.concept.definition [ fhir:value "G-banding" ] ], [ fhir:index 44 ; fhir:CodeSystem.concept.code [ fhir:value "gc-ms" ] ; fhir:CodeSystem.concept.display [ fhir:value "Gas chromatographymass spectrometry (GC-MS)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Gas chromatographymass spectrometry (GC-MS)" ] ], [ fhir:index 45 ; fhir:CodeSystem.concept.code [ fhir:value "gene-expression-profiling" ] ; fhir:CodeSystem.concept.display [ fhir:value "Gene expression profiling" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Gene expression profiling" ] ], [ fhir:index 46 ; fhir:CodeSystem.concept.code [ fhir:value "gene-id" ] ; fhir:CodeSystem.concept.display [ fhir:value "GeneID" ] ; fhir:CodeSystem.concept.definition [ fhir:value "GeneID" ] ], [ fhir:index 47 ; fhir:CodeSystem.concept.code [ fhir:value "gold-nanoparticle-probe-technology" ] ; fhir:CodeSystem.concept.display [ fhir:value "Gold nanoparticle probe technology" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Gold nanoparticle probe technology" ] ], [ fhir:index 48 ; fhir:CodeSystem.concept.code [ fhir:value "hplc" ] ; fhir:CodeSystem.concept.display [ fhir:value "High-performance liquid chromatography (HPLC)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "High-performance liquid chromatography (HPLC)" ] ], [ fhir:index 49 ; fhir:CodeSystem.concept.code [ fhir:value "lc-ms" ] ; fhir:CodeSystem.concept.display [ fhir:value "Liquid chromatography mass spectrometry (LC-MS)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Liquid chromatography mass spectrometry (LC-MS)" ] ], [ fhir:index 50 ; fhir:CodeSystem.concept.code [ fhir:value "lc-ms-ms" ] ; fhir:CodeSystem.concept.display [ fhir:value "Liquid chromatography-tandem mass spectrometry (LC-MS/MS)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Liquid chromatography-tandem mass spectrometry (LC-MS/MS)" ] ], [ fhir:index 51 ; fhir:CodeSystem.concept.code [ fhir:value "metabolite-levels" ] ; fhir:CodeSystem.concept.display [ fhir:value "Metabolite levels" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Metabolite levels" ] ], [ fhir:index 52 ; fhir:CodeSystem.concept.code [ fhir:value "methylation-specific-pcr" ] ; fhir:CodeSystem.concept.display [ fhir:value "Methylation-specific PCR" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Methylation-specific PCR" ] ], [ fhir:index 53 ; fhir:CodeSystem.concept.code [ fhir:value "microarray" ] ; fhir:CodeSystem.concept.display [ fhir:value "Microarray" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Microarray" ] ], [ fhir:index 54 ; fhir:CodeSystem.concept.code [ fhir:value "mlpa" ] ; fhir:CodeSystem.concept.display [ fhir:value "Multiplex Ligation-dependent Probe Amplification (MLPA)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Multiplex Ligation-dependent Probe Amplification (MLPA)" ] ], [ fhir:index 55 ; fhir:CodeSystem.concept.code [ fhir:value "ngs-mps" ] ; fhir:CodeSystem.concept.display [ fhir:value "Next-Generation (NGS)/Massively parallel sequencing (MPS)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Next-Generation (NGS)/Massively parallel sequencing (MPS)" ] ], [ fhir:index 56 ; fhir:CodeSystem.concept.code [ fhir:value "ola" ] ; fhir:CodeSystem.concept.display [ fhir:value "Oligonucleotide Ligation Assay (OLA)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Oligonucleotide Ligation Assay (OLA)" ] ], [ fhir:index 57 ; fhir:CodeSystem.concept.code [ fhir:value "oligonucleotide-hybridization-based-dna-sequencing" ] ; fhir:CodeSystem.concept.display [ fhir:value "Oligonucleotide hybridization-based DNA sequencing" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Oligonucleotide hybridization-based DNA sequencing" ] ], [ fhir:index 58 ; fhir:CodeSystem.concept.code [ fhir:value "other" ] ; fhir:CodeSystem.concept.display [ fhir:value "Other" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Other" ] ], [ fhir:index 59 ; fhir:CodeSystem.concept.code [ fhir:value "pcr" ] ; fhir:CodeSystem.concept.display [ fhir:value "PCR" ] ; fhir:CodeSystem.concept.definition [ fhir:value "PCR" ] ], [ fhir:index 60 ; fhir:CodeSystem.concept.code [ fhir:value "pcr-with-allele-specific-hybridization" ] ; fhir:CodeSystem.concept.display [ fhir:value "PCR with allele specific hybridization" ] ; fhir:CodeSystem.concept.definition [ fhir:value "PCR with allele specific hybridization" ] ], [ fhir:index 61 ; fhir:CodeSystem.concept.code [ fhir:value "pcr-rflp-with-southern-hybridization" ] ; fhir:CodeSystem.concept.display [ fhir:value "PCR-RFLP with Southern hybridization" ] ; fhir:CodeSystem.concept.definition [ fhir:value "PCR-RFLP with Southern hybridization" ] ], [ fhir:index 62 ; fhir:CodeSystem.concept.code [ fhir:value "protein-truncation-test" ] ; fhir:CodeSystem.concept.display [ fhir:value "Protein truncation test" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Protein truncation test" ] ], [ fhir:index 63 ; fhir:CodeSystem.concept.code [ fhir:value "pyrosequencing" ] ; fhir:CodeSystem.concept.display [ fhir:value "Pyrosequencing" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Pyrosequencing" ] ], [ fhir:index 64 ; fhir:CodeSystem.concept.code [ fhir:value "q-banding" ] ; fhir:CodeSystem.concept.display [ fhir:value "Q-banding" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Q-banding" ] ], [ fhir:index 65 ; fhir:CodeSystem.concept.code [ fhir:value "qpcr" ] ; fhir:CodeSystem.concept.display [ fhir:value "Quantitative PCR (qPCR)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Quantitative PCR (qPCR)" ] ], [ fhir:index 66 ; fhir:CodeSystem.concept.code [ fhir:value "r-banding" ] ; fhir:CodeSystem.concept.display [ fhir:value "R-banding" ] ; fhir:CodeSystem.concept.definition [ fhir:value "R-banding" ] ], [ fhir:index 67 ; fhir:CodeSystem.concept.code [ fhir:value "rflp" ] ; fhir:CodeSystem.concept.display [ fhir:value "RFLP" ] ; fhir:CodeSystem.concept.definition [ fhir:value "RFLP" ] ], [ fhir:index 68 ; fhir:CodeSystem.concept.code [ fhir:value "rt-lamp" ] ; fhir:CodeSystem.concept.display [ fhir:value "RT-LAMP" ] ; fhir:CodeSystem.concept.definition [ fhir:value "RT-LAMP" ] ], [ fhir:index 69 ; fhir:CodeSystem.concept.code [ fhir:value "rt-pcr" ] ; fhir:CodeSystem.concept.display [ fhir:value "RT-PCR" ] ; fhir:CodeSystem.concept.definition [ fhir:value "RT-PCR" ] ], [ fhir:index 70 ; fhir:CodeSystem.concept.code [ fhir:value "rt-pcr-with-gel-analysis" ] ; fhir:CodeSystem.concept.display [ fhir:value "RT-PCR with gel analysis" ] ; fhir:CodeSystem.concept.definition [ fhir:value "RT-PCR with gel analysis" ] ], [ fhir:index 71 ; fhir:CodeSystem.concept.code [ fhir:value "rt-qpcr" ] ; fhir:CodeSystem.concept.display [ fhir:value "RT-qPCR" ] ; fhir:CodeSystem.concept.definition [ fhir:value "RT-qPCR" ] ], [ fhir:index 72 ; fhir:CodeSystem.concept.code [ fhir:value "snp-detection" ] ; fhir:CodeSystem.concept.display [ fhir:value "SNP Detection" ] ; fhir:CodeSystem.concept.definition [ fhir:value "SNP Detection" ] ], [ fhir:index 73 ; fhir:CodeSystem.concept.code [ fhir:value "silver-staining" ] ; fhir:CodeSystem.concept.display [ fhir:value "Silver staining" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Silver staining" ] ], [ fhir:index 74 ; fhir:CodeSystem.concept.code [ fhir:value "sky" ] ; fhir:CodeSystem.concept.display [ fhir:value "Spectral karyotyping (SKY)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Spectral karyotyping (SKY)" ] ], [ fhir:index 75 ; fhir:CodeSystem.concept.code [ fhir:value "t-banding" ] ; fhir:CodeSystem.concept.display [ fhir:value "T-banding" ] ; fhir:CodeSystem.concept.definition [ fhir:value "T-banding" ] ], [ fhir:index 76 ; fhir:CodeSystem.concept.code [ fhir:value "ms-ms" ] ; fhir:CodeSystem.concept.display [ fhir:value "Tandem mass spectrometry (MS/MS)" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Tandem mass spectrometry (MS/MS)" ] ], [ fhir:index 77 ; fhir:CodeSystem.concept.code [ fhir:value "tetra-nucleotide-repeat-by-pcr-or-southern-blot" ] ; fhir:CodeSystem.concept.display [ fhir:value "Tetra-nucleotide repeat by PCR or Southern Blot" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Tetra-nucleotide repeat by PCR or Southern Blot" ] ], [ fhir:index 78 ; fhir:CodeSystem.concept.code [ fhir:value "tiling-arrays" ] ; fhir:CodeSystem.concept.display [ fhir:value "Tiling Arrays" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Tiling Arrays" ] ], [ fhir:index 79 ; fhir:CodeSystem.concept.code [ fhir:value "trinucleotide-repeat-by-pcr-or-southern-blot" ] ; fhir:CodeSystem.concept.display [ fhir:value "Trinucleotide repeat by PCR or Southern Blot" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Trinucleotide repeat by PCR or Southern Blot" ] ], [ fhir:index 80 ; fhir:CodeSystem.concept.code [ fhir:value "uni-directional-sanger-sequencing" ] ; fhir:CodeSystem.concept.display [ fhir:value "Uni-directional Sanger sequencing" ] ; fhir:CodeSystem.concept.definition [ fhir:value "Uni-directional Sanger sequencing" ] ] . # - ontology header ------------------------------------------------------------ <http://hl7.org/fhir/CodeSystem/genomic-study-method-type-cs.ttl> a owl:Ontology ; owl:imports fhir:fhir.ttl ; owl:versionIRI <http://build.fhir.org/CodeSystem/genomic-study-method-type-cs.ttl> .
IG © 2025+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#4.0.0-cibuild based on FHIR 4.0.1. Generated 2026-09-21
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