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Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative |
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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 "2023-03-01T07:03:57-05:00" ] ; 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 "0" ] ] ) ; 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 "5.0.0-draft-final"], [ fhir:v "5.0.0-draft-final"] ; 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.
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