This page is part of the FHIR Specification (v5.0.0-ballot: FHIR R5 Ballot Preview). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions
Clinical Genomics Work Group | Maturity Level: N/A | Standards 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 "2022-09-06T19:58:29-05:00" ]; 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-ballot"]; fhir:CanonicalResource.name [ fhir:value "GenomicStudyMethodType"]; fhir:CanonicalResource.title [ fhir:value "GenomicStudyMethodType"]; fhir:CanonicalResource.status [ fhir:value "draft"]; fhir:CanonicalResource.experimental [ fhir:value "false"]; 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: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-ballot"]; fhir:CodeSystem.name [ fhir:value "GenomicStudyMethodType"]; fhir:CodeSystem.title [ fhir:value "GenomicStudyMethodType"]; fhir:CodeSystem.status [ fhir:value "draft"]; fhir:CodeSystem.experimental [ fhir:value "false"]; 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.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.