Definition for Code SystemGenomicStudyType

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

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[] a fhir:CodeSystem ;
  fhir:id [ fhir:v "genomicstudy-type"] ;
  fhir:meta [
     fhir:lastUpdated [ fhir:v "2024-11-22T08:35:32.968-05:00" ] ;
     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-type"], [ fhir:v "http://hl7.org/fhir/genomicstudy-type"] ;
  fhir:identifier ( [
     fhir:system [ fhir:v "urn:ietf:rfc:3986" ] ;
     fhir:value [ fhir:v "urn:oid:2.16.840.1.113883.4.642.4.1975" ]
  ] [
     fhir:system [ fhir:v "urn:ietf:rfc:3986" ] ;
     fhir:value [ fhir:v "urn:oid:2.16.840.1.113883.4.642.4.1975" ]
  ] ) ;
  fhir:version [ fhir:v "6.0.0-ballot2"], [ fhir:v "6.0.0-ballot2"] ;
  fhir:name [ fhir:v "GenomicStudyType"], [ fhir:v "GenomicStudyType"] ;
  fhir:title [ fhir:v "Genomic Study Type"], [ fhir:v "Genomic Study Type"] ;
  fhir:status [ fhir:v "active"], [ fhir:v "active"] ;
  fhir:experimental [ fhir:v "true"], [ fhir:v "true"] ;
  fhir:date [ fhir:v "2022-08-17T16:19:24-05:00"], [ fhir:v "2022-08-17T16:19:24-05:00"] ;
  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 type relevant to GenomicStudy."], [ fhir:v "The type relevant to GenomicStudy."] ;
  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-type"] ;
  fhir:content [ fhir:v "complete"] ;
  fhir:concept ( [
     fhir:code [ fhir:v "alt-splc" ] ;
     fhir:display [ fhir:v "Alternative splicing detection" ] ;
     fhir:definition [ fhir:v "Identification of multiple different processed mRNA transcripts from the same DNA template" ]
  ] [
     fhir:code [ fhir:v "chromatin" ] ;
     fhir:display [ fhir:v "Chromatin conformation" ] ;
     fhir:definition [ fhir:v "Analysis of the spacial organization of chromatin within a cell" ]
  ] [
     fhir:code [ fhir:v "cnv" ] ;
     fhir:display [ fhir:v "CNV detection" ] ;
     fhir:definition [ fhir:v "Detection of a change in the number of copies of a defined region of genomic DNA sequence resulting in structural variation when compared to the reference sequence" ]
  ] [
     fhir:code [ fhir:v "epi-alt-hist" ] ;
     fhir:display [ fhir:v "Epigenetic Alterations - histone modifications" ] ;
     fhir:definition [ fhir:v "Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression" ]
  ] [
     fhir:code [ fhir:v "epi-alt-dna" ] ;
     fhir:display [ fhir:v "Epigenetic Alterations -DNA methylation" ] ;
     fhir:definition [ fhir:v "Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription" ]
  ] [
     fhir:code [ fhir:v "fam-var-segr" ] ;
     fhir:display [ fhir:v "Familial variant segregation" ] ;
     fhir:definition [ fhir:v "Determining if a variant identified in an individual is present in other family members" ]
  ] [
     fhir:code [ fhir:v "func-var" ] ;
     fhir:display [ fhir:v "Functional variation detection" ] ;
     fhir:definition [ fhir:v "Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence" ]
  ] [
     fhir:code [ fhir:v "gene-expression" ] ;
     fhir:display [ fhir:v "Gene expression profiling" ] ;
     fhir:definition [ fhir:v "Measurement and characterization of activity from all gene products" ]
  ] [
     fhir:code [ fhir:v "post-trans-mod" ] ;
     fhir:display [ fhir:v "Post-translational Modification Identification" ] ;
     fhir:definition [ fhir:v "Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein" ]
  ] [
     fhir:code [ fhir:v "snp" ] ;
     fhir:display [ fhir:v "SNP Detection" ] ;
     fhir:definition [ fhir:v "Determination of which nucleotide is base present at a known variable location of the genomic sequence" ]
  ] [
     fhir:code [ fhir:v "str" ] ;
     fhir:display [ fhir:v "STR count" ] ;
     fhir:definition [ fhir:v "Quantification of the number of sequential microsatellite units in a repetitive sequence region" ]
  ] [
     fhir:code [ fhir:v "struc-var" ] ;
     fhir:display [ fhir:v "Structural variation detection" ] ;
     fhir:definition [ fhir:v "Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence" ]
  ] ) .

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