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Example CodeSystem/genomicstudy-methodtype (Turtle)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: Informative

Raw Turtle (+ also see Turtle/RDF Format Specification)

Definition for Code SystemGenomicStudyMethodType

@prefix fhir: <http://hl7.org/fhir/> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .

# - resource -------------------------------------------------------------------

[] a fhir:CodeSystem ;
  fhir:id [ fhir:v "genomicstudy-methodtype"] ;
  fhir:meta [
     fhir:lastUpdated [ fhir:v "2024-06-17T13:39:48-05:00" ] ;
     fhir:profile ( [ fhir:v "http://hl7.org/fhir/StructureDefinition/shareablecodesystem" ] )
  ] ;
  fhir:text [
     fhir:status [ fhir:v "generated" ]
  ] ;
  fhir:extension ( [
     fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg" ] ;
     fhir:value [ fhir:v "cg" ]
  ] [
     fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status" ] ;
     fhir:value [ fhir:v "trial-use" ]
  ] [
     fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm" ] ;
     fhir:value [ fhir:v "1" ]
  ] ) ;
  fhir:url [ fhir:v "http://hl7.org/fhir/genomicstudy-methodtype"], [ fhir:v "http://hl7.org/fhir/genomicstudy-methodtype"] ;
  fhir:identifier ( [
     fhir:system [ fhir:v "urn:ietf:rfc:3986" ] ;
     fhir:value [ fhir:v "urn:oid:2.16.840.1.113883.4.642.4.1979" ]
  ] [
     fhir:system [ fhir:v "urn:ietf:rfc:3986" ] ;
     fhir:value [ fhir:v "urn:oid:2.16.840.1.113883.4.642.4.1979" ]
  ] ) ;
  fhir:version [ fhir:v "6.0.0-cibuild"], [ fhir:v "6.0.0-cibuild"] ;
  fhir:name [ fhir:v "GenomicStudyMethodType"], [ fhir:v "GenomicStudyMethodType"] ;
  fhir:title [ fhir:v "Genomic Study Method Type"], [ fhir:v "Genomic Study Method Type"] ;
  fhir:status [ fhir:v "active"], [ fhir:v "active"] ;
  fhir:experimental [ fhir:v "true"], [ fhir:v "true"] ;
  fhir:date [ fhir:v "2022-08-16T16:49:24-05:00"], [ fhir:v "2022-08-16T16:49:24-05:00"] ;
  fhir:publisher [ fhir:v "HL7 (FHIR Project)"], [ fhir:v "HL7 (FHIR Project)"] ;
  fhir:contact ( [
     fhir:telecom ( [
       fhir:system [ fhir:v "url" ] ;
       fhir:value [ fhir:v "http://hl7.org/fhir" ]
     ] [
       fhir:system [ fhir:v "email" ] ;
       fhir:value [ fhir:v "fhir@lists.hl7.org" ]
     ] )
  ] [
     fhir:telecom ( [
       fhir:system [ fhir:v "url" ] ;
       fhir:value [ fhir:v "http://hl7.org/fhir" ]
     ] [
       fhir:system [ fhir:v "email" ] ;
       fhir:value [ fhir:v "fhir@lists.hl7.org" ]
     ] )
  ] ) ;
  fhir:description [ fhir:v "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)"], [ fhir:v "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)"] ;
  fhir:jurisdiction ( [
     fhir:coding ( [
       fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm" ] ;
       fhir:code [ fhir:v "001" ] ;
       fhir:display [ fhir:v "World" ]
     ] )
  ] [
     fhir:coding ( [
       fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm" ] ;
       fhir:code [ fhir:v "001" ] ;
       fhir:display [ fhir:v "World" ]
     ] )
  ] ) ;
  fhir:caseSensitive [ fhir:v "true"] ;
  fhir:valueSet [ fhir:v "http://hl7.org/fhir/ValueSet/genomicstudy-methodtype"] ;
  fhir:content [ fhir:v "complete"] ;
  fhir:concept ( [
     fhir:code [ fhir:v "biochemical-genetics" ] ;
     fhir:display [ fhir:v "Biochemical Genetics" ]
  ] [
     fhir:code [ fhir:v "cytogenetics" ] ;
     fhir:display [ fhir:v "Cytogenetics" ]
  ] [
     fhir:code [ fhir:v "molecular-genetics" ] ;
     fhir:display [ fhir:v "Molecular Genetics" ]
  ] [
     fhir:code [ fhir:v "analyte" ] ;
     fhir:display [ fhir:v "Analyte" ]
  ] [
     fhir:code [ fhir:v "chromosome-breakage-studies" ] ;
     fhir:display [ fhir:v "Chromosome breakage studies" ]
  ] [
     fhir:code [ fhir:v "deletion-duplication-analysis" ] ;
     fhir:display [ fhir:v "Deletion/duplication analysis" ]
  ] [
     fhir:code [ fhir:v "detection-of-homozygosity" ] ;
     fhir:display [ fhir:v "Detection of homozygosity" ]
  ] [
     fhir:code [ fhir:v "enzyme-assay" ] ;
     fhir:display [ fhir:v "Enzyme assay" ]
  ] [
     fhir:code [ fhir:v "fish-interphase" ] ;
     fhir:display [ fhir:v "FISH-interphase" ]
  ] [
     fhir:code [ fhir:v "fish-metaphase" ] ;
     fhir:display [ fhir:v "FISH-metaphase" ]
  ] [
     fhir:code [ fhir:v "flow-cytometry" ] ;
     fhir:display [ fhir:v "Flow cytometry" ]
  ] [
     fhir:code [ fhir:v "fish" ] ;
     fhir:display [ fhir:v "Fluorescence in situ hybridization (FISH)" ]
  ] [
     fhir:code [ fhir:v "immunohistochemistry" ] ;
     fhir:display [ fhir:v "Immunohistochemistry" ]
  ] [
     fhir:code [ fhir:v "karyotyping" ] ;
     fhir:display [ fhir:v "Karyotyping" ]
  ] [
     fhir:code [ fhir:v "linkage-analysis" ] ;
     fhir:display [ fhir:v "Linkage analysis" ]
  ] [
     fhir:code [ fhir:v "methylation-analysis" ] ;
     fhir:display [ fhir:v "Methylation analysis" ]
  ] [
     fhir:code [ fhir:v "msi" ] ;
     fhir:display [ fhir:v "Microsatellite instability testing (MSI)" ]
  ] [
     fhir:code [ fhir:v "m-fish" ] ;
     fhir:display [ fhir:v "Multicolor FISH (M-FISH)" ]
  ] [
     fhir:code [ fhir:v "mutation-scanning-of-select-exons" ] ;
     fhir:display [ fhir:v "Mutation scanning of select exons" ]
  ] [
     fhir:code [ fhir:v "mutation-scanning-of-the-entire-coding-region" ] ;
     fhir:display [ fhir:v "Mutation scanning of the entire coding region" ]
  ] [
     fhir:code [ fhir:v "protein-analysis" ] ;
     fhir:display [ fhir:v "Protein analysis" ]
  ] [
     fhir:code [ fhir:v "protein-expression" ] ;
     fhir:display [ fhir:v "Protein expression" ]
  ] [
     fhir:code [ fhir:v "rna-analysis" ] ;
     fhir:display [ fhir:v "RNA analysis" ]
  ] [
     fhir:code [ fhir:v "sequence-analysis-of-select-exons" ] ;
     fhir:display [ fhir:v "Sequence analysis of select exons" ]
  ] [
     fhir:code [ fhir:v "sequence-analysis-of-the-entire-coding-region" ] ;
     fhir:display [ fhir:v "Sequence analysis of the entire coding region" ]
  ] [
     fhir:code [ fhir:v "sister-chromatid-exchange" ] ;
     fhir:display [ fhir:v "Sister chromatid exchange" ]
  ] [
     fhir:code [ fhir:v "targeted-variant-analysis" ] ;
     fhir:display [ fhir:v "Targeted variant analysis" ]
  ] [
     fhir:code [ fhir:v "udp" ] ;
     fhir:display [ fhir:v "Uniparental disomy study (UPD)" ]
  ] [
     fhir:code [ fhir:v "aspe" ] ;
     fhir:display [ fhir:v "Allele-specific primer extension (ASPE)" ]
  ] [
     fhir:code [ fhir:v "alternative-splicing-detection" ] ;
     fhir:display [ fhir:v "Alternative splicing detection" ]
  ] [
     fhir:code [ fhir:v "bi-directional-sanger-sequence-analysis" ] ;
     fhir:display [ fhir:v "Bi-directional Sanger Sequence Analysis" ]
  ] [
     fhir:code [ fhir:v "c-banding" ] ;
     fhir:display [ fhir:v "C-banding" ]
  ] [
     fhir:code [ fhir:v "cia" ] ;
     fhir:display [ fhir:v "Chemiluminescent Immunoassay (CIA)" ]
  ] [
     fhir:code [ fhir:v "chromatin-immunoprecipitation-on-chip" ] ;
     fhir:display [ fhir:v "Chromatin Immunoprecipitation on ChIP" ]
  ] [
     fhir:code [ fhir:v "comparative-genomic-hybridization" ] ;
     fhir:display [ fhir:v "Comparative Genomic Hybridization" ]
  ] [
     fhir:code [ fhir:v "damid" ] ;
     fhir:display [ fhir:v "DamID" ]
  ] [
     fhir:code [ fhir:v "digital-virtual-karyotyping" ] ;
     fhir:display [ fhir:v "Digital / Virtual karyotyping" ]
  ] [
     fhir:code [ fhir:v "digital-microfluidic-microspheres" ] ;
     fhir:display [ fhir:v "Digital microfluidic microspheres" ]
  ] [
     fhir:code [ fhir:v "enzymatic-levels" ] ;
     fhir:display [ fhir:v "Enzymatic levels" ]
  ] [
     fhir:code [ fhir:v "enzyme-activity" ] ;
     fhir:display [ fhir:v "Enzyme activity" ]
  ] [
     fhir:code [ fhir:v "elisa" ] ;
     fhir:display [ fhir:v "Enzyme-Linked Immunosorbent Assays (ELISA)" ]
  ] [
     fhir:code [ fhir:v "fluorometry" ] ;
     fhir:display [ fhir:v "Fluorometry" ]
  ] [
     fhir:code [ fhir:v "fusion-genes-microarrays" ] ;
     fhir:display [ fhir:v "Fusion genes microarrays" ]
  ] [
     fhir:code [ fhir:v "g-banding" ] ;
     fhir:display [ fhir:v "G-banding" ]
  ] [
     fhir:code [ fhir:v "gc-ms" ] ;
     fhir:display [ fhir:v "Gas chromatography–mass spectrometry (GC-MS)" ]
  ] [
     fhir:code [ fhir:v "gene-expression-profiling" ] ;
     fhir:display [ fhir:v "Gene expression profiling" ]
  ] [
     fhir:code [ fhir:v "gene-id" ] ;
     fhir:display [ fhir:v "GeneID" ]
  ] [
     fhir:code [ fhir:v "gold-nanoparticle-probe-technology" ] ;
     fhir:display [ fhir:v "Gold nanoparticle probe technology" ]
  ] [
     fhir:code [ fhir:v "hplc" ] ;
     fhir:display [ fhir:v "High-performance liquid chromatography (HPLC)" ]
  ] [
     fhir:code [ fhir:v "lc-ms" ] ;
     fhir:display [ fhir:v "Liquid chromatography mass spectrometry (LC-MS)" ]
  ] [
     fhir:code [ fhir:v "lc-ms-ms" ] ;
     fhir:display [ fhir:v "Liquid chromatography-tandem mass spectrometry (LC-MS/MS)" ]
  ] [
     fhir:code [ fhir:v "metabolite-levels" ] ;
     fhir:display [ fhir:v "Metabolite levels" ]
  ] [
     fhir:code [ fhir:v "methylation-specific-pcr" ] ;
     fhir:display [ fhir:v "Methylation-specific PCR" ]
  ] [
     fhir:code [ fhir:v "microarray" ] ;
     fhir:display [ fhir:v "Microarray" ]
  ] [
     fhir:code [ fhir:v "mlpa" ] ;
     fhir:display [ fhir:v "Multiplex Ligation-dependent Probe Amplification (MLPA)" ]
  ] [
     fhir:code [ fhir:v "ngs-mps" ] ;
     fhir:display [ fhir:v "Next-Generation (NGS)/Massively parallel sequencing (MPS)" ]
  ] [
     fhir:code [ fhir:v "ola" ] ;
     fhir:display [ fhir:v "Oligonucleotide Ligation Assay (OLA)" ]
  ] [
     fhir:code [ fhir:v "oligonucleotide-hybridization-based-dna-sequencing" ] ;
     fhir:display [ fhir:v "Oligonucleotide hybridization-based DNA sequencing" ]
  ] [
     fhir:code [ fhir:v "other" ] ;
     fhir:display [ fhir:v "Other" ]
  ] [
     fhir:code [ fhir:v "pcr" ] ;
     fhir:display [ fhir:v "PCR" ]
  ] [
     fhir:code [ fhir:v "pcr-with-allele-specific-hybridization" ] ;
     fhir:display [ fhir:v "PCR with allele specific hybridization" ]
  ] [
     fhir:code [ fhir:v "pcr-rflp-with-southern-hybridization" ] ;
     fhir:display [ fhir:v "PCR-RFLP with Southern hybridization" ]
  ] [
     fhir:code [ fhir:v "protein-truncation-test" ] ;
     fhir:display [ fhir:v "Protein truncation test" ]
  ] [
     fhir:code [ fhir:v "pyrosequencing" ] ;
     fhir:display [ fhir:v "Pyrosequencing" ]
  ] [
     fhir:code [ fhir:v "q-banding" ] ;
     fhir:display [ fhir:v "Q-banding" ]
  ] [
     fhir:code [ fhir:v "qpcr" ] ;
     fhir:display [ fhir:v "Quantitative PCR (qPCR)" ]
  ] [
     fhir:code [ fhir:v "r-banding" ] ;
     fhir:display [ fhir:v "R-banding" ]
  ] [
     fhir:code [ fhir:v "rflp" ] ;
     fhir:display [ fhir:v "RFLP" ]
  ] [
     fhir:code [ fhir:v "rt-lamp" ] ;
     fhir:display [ fhir:v "RT-LAMP" ]
  ] [
     fhir:code [ fhir:v "rt-pcr" ] ;
     fhir:display [ fhir:v "RT-PCR" ]
  ] [
     fhir:code [ fhir:v "rt-pcr-with-gel-analysis" ] ;
     fhir:display [ fhir:v "RT-PCR with gel analysis" ]
  ] [
     fhir:code [ fhir:v "rt-qpcr" ] ;
     fhir:display [ fhir:v "RT-qPCR" ]
  ] [
     fhir:code [ fhir:v "snp-detection" ] ;
     fhir:display [ fhir:v "SNP Detection" ]
  ] [
     fhir:code [ fhir:v "silver-staining" ] ;
     fhir:display [ fhir:v "Silver staining" ]
  ] [
     fhir:code [ fhir:v "sky" ] ;
     fhir:display [ fhir:v "Spectral karyotyping (SKY)" ]
  ] [
     fhir:code [ fhir:v "t-banding" ] ;
     fhir:display [ fhir:v "T-banding" ]
  ] [
     fhir:code [ fhir:v "ms-ms" ] ;
     fhir:display [ fhir:v "Tandem mass spectrometry (MS/MS)" ]
  ] [
     fhir:code [ fhir:v "tetra-nucleotide-repeat-by-pcr-or-southern-blot" ] ;
     fhir:display [ fhir:v "Tetra-nucleotide repeat by PCR or Southern Blot" ]
  ] [
     fhir:code [ fhir:v "tiling-arrays" ] ;
     fhir:display [ fhir:v "Tiling Arrays" ]
  ] [
     fhir:code [ fhir:v "trinucleotide-repeat-by-pcr-or-southern-blot" ] ;
     fhir:display [ fhir:v "Trinucleotide repeat by PCR or Southern Blot" ]
  ] [
     fhir:code [ fhir:v "uni-directional-sanger-sequencing" ] ;
     fhir:display [ fhir:v "Uni-directional Sanger sequencing" ]
  ] ) .

# -------------------------------------------------------------------------------------


Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.