Definition for Code SystemGenomicStudyType

@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

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

<http://hl7.org/fhir/CodeSystem/genomicstudy-type> a fhir:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "genomicstudy-type"] ; # 
  fhir:meta [
     fhir:lastUpdated [ fhir:v "2025-10-25T09:00:37.313-05:00"^^xsd:dateTime ] ;
     fhir:profile ( [
       fhir:v "http://hl7.org/fhir/StructureDefinition/shareablecodesystem"^^xsd:anyURI ;
       fhir:link <http://hl7.org/fhir/StructureDefinition/shareablecodesystem>
     ] )
  ] ; # 
  fhir:text [
     fhir:status [ fhir:v "generated" ] ;
     fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem genomicstudy-type</b></p><a name=\"genomicstudy-type\"> </a><a name=\"hcgenomicstudy-type\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Last updated: 2022-08-17T16:18:24.148-05:00</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"shareablecodesystem.html\">Shareable CodeSystem</a></p></div><p>This case-sensitive code system <code>http://hl7.org/fhir/genomicstudy-type</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">alt-splc<a name=\"genomicstudy-type-alt-splc\"> </a></td><td>Alternative splicing detection</td><td>Identification of multiple different processed mRNA transcripts from the same DNA template</td></tr><tr><td style=\"white-space:nowrap\">chromatin<a name=\"genomicstudy-type-chromatin\"> </a></td><td>Chromatin conformation</td><td>Analysis of the spacial organization of chromatin within a cell</td></tr><tr><td style=\"white-space:nowrap\">cnv<a name=\"genomicstudy-type-cnv\"> </a></td><td>CNV detection</td><td>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</td></tr><tr><td style=\"white-space:nowrap\">epi-alt-hist<a name=\"genomicstudy-type-epi-alt-hist\"> </a></td><td>Epigenetic Alterations - histone modifications</td><td>Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression</td></tr><tr><td style=\"white-space:nowrap\">epi-alt-dna<a name=\"genomicstudy-type-epi-alt-dna\"> </a></td><td>Epigenetic Alterations -DNA methylation</td><td>Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription</td></tr><tr><td style=\"white-space:nowrap\">fam-var-segr<a name=\"genomicstudy-type-fam-var-segr\"> </a></td><td>Familial variant segregation</td><td>Determining if a variant identified in an individual is present in other family members</td></tr><tr><td style=\"white-space:nowrap\">func-var<a name=\"genomicstudy-type-func-var\"> </a></td><td>Functional variation detection</td><td>Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence</td></tr><tr><td style=\"white-space:nowrap\">gene-expression<a name=\"genomicstudy-type-gene-expression\"> </a></td><td>Gene expression profiling</td><td>Measurement and characterization of activity from all gene products</td></tr><tr><td style=\"white-space:nowrap\">post-trans-mod<a name=\"genomicstudy-type-post-trans-mod\"> </a></td><td>Post-translational Modification Identification</td><td>Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein</td></tr><tr><td style=\"white-space:nowrap\">snp<a name=\"genomicstudy-type-snp\"> </a></td><td>SNP Detection</td><td>Determination of which nucleotide is base present at a known variable location of the genomic sequence</td></tr><tr><td style=\"white-space:nowrap\">str<a name=\"genomicstudy-type-str\"> </a></td><td>STR count</td><td>Quantification of the number of sequential microsatellite units in a repetitive sequence region</td></tr><tr><td style=\"white-space:nowrap\">struc-var<a name=\"genomicstudy-type-struc-var\"> </a></td><td>Structural variation detection</td><td>Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence</td></tr></table></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:extension ( [
     fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
     fhir:value [
       a fhir:code ;
       fhir:v "cg"
     ]
  ] [
     fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ] ;
     fhir:value [
       a fhir:code ;
       fhir:v "trial-use"
     ]
  ] [
     fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ] ;
     fhir:value [
       a fhir:integer ;
       fhir:v 1
     ]
  ] ) ; # 
  fhir:url [ fhir:v "http://hl7.org/fhir/genomicstudy-type"^^xsd:anyURI] ; # 
  fhir:identifier ( [
     fhir:system [ fhir:v "urn:ietf:rfc:3986"^^xsd:anyURI ] ;
     fhir:value [ fhir:v "urn:oid:2.16.840.1.113883.4.642.4.1975" ]
  ] ) ; # 
  fhir:version [ fhir:v "6.0.0-ballot3"] ; # 
  fhir:name [ fhir:v "GenomicStudyType"] ; # 
  fhir:title [ fhir:v "Genomic Study Type"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v true] ; # 
  fhir:date [ fhir:v "2022-08-17T16:19:24-05:00"^^xsd:dateTime] ; # 
  fhir:publisher [ 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:description [ fhir:v "The type relevant to GenomicStudy."] ; # 
  fhir:jurisdiction ( [
     fhir:coding ( [
       fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
       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"^^xsd:anyURI ;
     fhir:link <http://hl7.org/fhir/ValueSet/genomicstudy-type>
  ] ; # 
  fhir:hierarchyMeaning [] ; # 
  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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