Snapshot 3: Connectathon 32 Base

This is Snapshot #3 for FHIR R5, released to support Connectathon 32. For a full list of available versions, see the Directory of published versions.

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:Resource.id [ fhir:value "genomicstudy-methodtype"];
  fhir:Resource.meta [
     fhir:Meta.lastUpdated [ fhir:value "2022-12-13T15:12:54-05:00" ];
     fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/StructureDefinition/shareablecodesystem" ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ]
  ];
  fhir:DomainResource.extension [
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg" ];
     fhir:Extension.value [ fhir:value "cg" ]
  ], [
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status" ];
     fhir:Extension.value [ fhir:value "trial-use" ]
  ], [
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm" ];
     fhir:Extension.value [ fhir:value "0" ]
  ];
  fhir:CanonicalResource.url [ fhir:value "http://hl7.org/fhir/genomicstudy-methodtype"];
  fhir:CanonicalResource.identifier [
     fhir:Identifier.system [ fhir:value "urn:ietf:rfc:3986" ];
     fhir:Identifier.value [ fhir:value "urn:oid:2.16.840.1.113883.4.642.4.1979" ]
  ];
  fhir:CanonicalResource.version [ fhir:value "5.0.0-snapshot3"];
  fhir:CanonicalResource.name [ fhir:value "GenomicStudyMethodType"];
  fhir:CanonicalResource.title [ fhir:value "GenomicStudyMethodType"];
  fhir:CanonicalResource.status [ fhir:value "active"];
  fhir:CanonicalResource.experimental [ fhir:value "true"];
  fhir:CanonicalResource.date [ fhir:value "2022-08-16T16:49:24-05:00"];
  fhir:CanonicalResource.publisher [ fhir:value "HL7 (FHIR Project)"];
  fhir:CanonicalResource.contact [
     fhir:ContactDetail.telecom [
       fhir:ContactPoint.system [ fhir:value "url" ];
       fhir:ContactPoint.value [ fhir:value "http://hl7.org/fhir" ]
     ], [
       fhir:ContactPoint.system [ fhir:value "email" ];
       fhir:ContactPoint.value [ fhir:value "fhir@lists.hl7.org" ]
     ]
  ];
  fhir:CanonicalResource.description [ fhir:value "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:CanonicalResource.jurisdiction [
     fhir:CodeableConcept.coding [
       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.url [ fhir:value "http://hl7.org/fhir/genomicstudy-methodtype"];
  fhir:CodeSystem.identifier [
     fhir:Identifier.system [ fhir:value "urn:ietf:rfc:3986" ];
     fhir:Identifier.value [ fhir:value "urn:oid:2.16.840.1.113883.4.642.4.1979" ]
  ];
  fhir:CodeSystem.version [ fhir:value "5.0.0-snapshot3"];
  fhir:CodeSystem.name [ fhir:value "GenomicStudyMethodType"];
  fhir:CodeSystem.title [ fhir:value "GenomicStudyMethodType"];
  fhir:CodeSystem.status [ fhir:value "active"];
  fhir:CodeSystem.experimental [ fhir:value "true"];
  fhir:CodeSystem.date [ fhir:value "2022-08-16T16:49:24-05:00"];
  fhir:CodeSystem.publisher [ fhir:value "HL7 (FHIR Project)"];
  fhir:CodeSystem.contact [
     fhir:ContactDetail.telecom [
       fhir:ContactPoint.system [ fhir:value "url" ];
       fhir:ContactPoint.value [ fhir:value "http://hl7.org/fhir" ]
     ], [
       fhir:ContactPoint.system [ fhir:value "email" ];
       fhir:ContactPoint.value [ fhir:value "fhir@lists.hl7.org" ]
     ]
  ];
  fhir:CodeSystem.description [ fhir:value "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:CodeSystem.jurisdiction [
     fhir:CodeableConcept.coding [
       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"];
  fhir:CodeSystem.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/genomicstudy-methodtype"];
  fhir:CodeSystem.content [ fhir:value "complete"];
  fhir:CodeSystem.concept [
     fhir:ConceptDefinitionComponent.code [ fhir:value "biochemical-genetics" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Biochemical Genetics" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "cytogenetics" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Cytogenetics" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "molecular-genetics" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Molecular Genetics" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "analyte" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Analyte" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "chromosome-breakage-studies" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Chromosome breakage studies" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "deletion-duplication-analysis" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Deletion/duplication analysis" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "detection-of-homozygosity" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Detection of homozygosity" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "enzyme-assay" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Enzyme assay" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "fish-interphase" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "FISH-interphase" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "fish-metaphase" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "FISH-metaphase" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "flow-cytometry" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Flow cytometry" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "fish" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Fluorescence in situ hybridization (FISH)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "immunohistochemistry" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Immunohistochemistry" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "karyotyping" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Karyotyping" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "linkage-analysis" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Linkage analysis" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "methylation-analysis" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Methylation analysis" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "msi" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Microsatellite instability testing (MSI)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "m-fish" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Multicolor FISH (M-FISH)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "mutation-scanning-of-select-exons" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Mutation scanning of select exons" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "mutation-scanning-of-the-entire-coding-region" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Mutation scanning of the entire coding region" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "protein-analysis" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Protein analysis" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "protein-expression" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Protein expression" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "rna-analysis" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "RNA analysis" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "sequence-analysis-of-select-exons" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Sequence analysis of select exons" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "sequence-analysis-of-the-entire-coding-region" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Sequence analysis of the entire coding region" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "sister-chromatid-exchange" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Sister chromatid exchange" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "targeted-variant-analysis" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Targeted variant analysis" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "udp" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Uniparental disomy study (UPD)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "aspe" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Allele-specific primer extension (ASPE)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "alternative-splicing-detection" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Alternative splicing detection" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "bi-directional-sanger-sequence-analysis" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Bi-directional Sanger Sequence Analysis" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "c-banding" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "C-banding" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "cia" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Chemiluminescent Immunoassay (CIA)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "chromatin-immunoprecipitation-on-chip" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Chromatin Immunoprecipitation on ChIP" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "comparative-genomic-hybridization" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Comparative Genomic Hybridization" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "damid" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "DamID" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "digital-virtual-karyotyping" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Digital / Virtual karyotyping" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "digital-microfluidic-microspheres" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Digital microfluidic microspheres" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "enzymatic-levels" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Enzymatic levels" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "enzyme-activity" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Enzyme activity" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "elisa" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Enzyme-Linked Immunosorbent Assays (ELISA)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "fluorometry" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Fluorometry" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "fusion-genes-microarrays" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Fusion genes microarrays" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "g-banding" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "G-banding" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "gc-ms" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Gas chromatography–mass spectrometry (GC-MS)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "gene-expression-profiling" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Gene expression profiling" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "gene-id" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "GeneID" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "gold-nanoparticle-probe-technology" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Gold nanoparticle probe technology" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "hplc" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "High-performance liquid chromatography (HPLC)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "lc-ms" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Liquid chromatography mass spectrometry (LC-MS)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "lc-ms-ms" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Liquid chromatography-tandem mass spectrometry (LC-MS/MS)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "metabolite-levels" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Metabolite levels" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "methylation-specific-pcr" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Methylation-specific PCR" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "microarray" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Microarray" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "mlpa" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Multiplex Ligation-dependent Probe Amplification (MLPA)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "ngs-mps" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Next-Generation (NGS)/Massively parallel sequencing (MPS)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "ola" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Oligonucleotide Ligation Assay (OLA)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "oligonucleotide-hybridization-based-dna-sequencing" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Oligonucleotide hybridization-based DNA sequencing" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "other" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Other" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "pcr" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "PCR" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "pcr-with-allele-specific-hybridization" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "PCR with allele specific hybridization" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "pcr-rflp-with-southern-hybridization" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "PCR-RFLP with Southern hybridization" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "protein-truncation-test" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Protein truncation test" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "pyrosequencing" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Pyrosequencing" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "q-banding" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Q-banding" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "qpcr" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Quantitative PCR (qPCR)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "r-banding" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "R-banding" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "rflp" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "RFLP" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "rt-lamp" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "RT-LAMP" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "rt-pcr" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "RT-PCR" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "rt-pcr-with-gel-analysis" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "RT-PCR with gel analysis" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "rt-qpcr" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "RT-qPCR" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "snp-detection" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "SNP Detection" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "silver-staining" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Silver staining" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "sky" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Spectral karyotyping (SKY)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "t-banding" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "T-banding" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "ms-ms" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Tandem mass spectrometry (MS/MS)" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "tetra-nucleotide-repeat-by-pcr-or-southern-blot" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Tetra-nucleotide repeat by PCR or Southern Blot" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "tiling-arrays" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Tiling Arrays" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "trinucleotide-repeat-by-pcr-or-southern-blot" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Trinucleotide repeat by PCR or Southern Blot" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "uni-directional-sanger-sequencing" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "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.