Definition for Code SystemGenomicStudyType

@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-type"];
  fhir:Resource.meta [
     fhir:Meta.lastUpdated [ fhir:value "2022-09-09T13:52:37.223-05:00" ];
     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-type"];
  fhir:CanonicalResource.identifier [
     fhir:Identifier.system [ fhir:value "urn:ietf:rfc:3986" ];
     fhir:Identifier.value [ fhir:value "urn:oid:2.16.840.1.113883.4.642.4.1975" ]
  ];
  fhir:CanonicalResource.version [ fhir:value "5.0.0-ballot"];
  fhir:CanonicalResource.name [ fhir:value "GenomicStudyType"];
  fhir:CanonicalResource.title [ fhir:value "GenomicStudyType"];
  fhir:CanonicalResource.status [ fhir:value "draft"];
  fhir:CanonicalResource.experimental [ fhir:value "false"];
  fhir:CanonicalResource.date [ fhir:value "2022-08-17T16:19:24-05:00"];
  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 type relevant to GenomicStudy."];
  fhir:CodeSystem.url [ fhir:value "http://hl7.org/fhir/genomicstudy-type"];
  fhir:CodeSystem.identifier [
     fhir:Identifier.system [ fhir:value "urn:ietf:rfc:3986" ];
     fhir:Identifier.value [ fhir:value "urn:oid:2.16.840.1.113883.4.642.4.1975" ]
  ];
  fhir:CodeSystem.version [ fhir:value "5.0.0-ballot"];
  fhir:CodeSystem.name [ fhir:value "GenomicStudyType"];
  fhir:CodeSystem.title [ fhir:value "GenomicStudyType"];
  fhir:CodeSystem.status [ fhir:value "draft"];
  fhir:CodeSystem.experimental [ fhir:value "false"];
  fhir:CodeSystem.date [ fhir:value "2022-08-17T16:19:24-05:00"];
  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 type relevant to GenomicStudy."];
  fhir:CodeSystem.caseSensitive [ fhir:value "true"];
  fhir:CodeSystem.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/genomicstudy-type"];
  fhir:CodeSystem.content [ fhir:value "complete"];
  fhir:CodeSystem.concept [
     fhir:ConceptDefinitionComponent.code [ fhir:value "alt-splc" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Alternative splicing detection" ];
     fhir:ConceptDefinitionComponent.definition [ fhir:value "Identification of multiple different processed mRNA transcripts from the same DNA template" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "chromatin" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Chromatin conformation" ];
     fhir:ConceptDefinitionComponent.definition [ fhir:value "Analysis of the spacial organization of chromatin within a cell" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "cnv" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "CNV detection" ];
     fhir:ConceptDefinitionComponent.definition [ fhir:value "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:ConceptDefinitionComponent.code [ fhir:value "epi-alt-hist" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Epigenetic Alterations - histone modifications" ];
     fhir:ConceptDefinitionComponent.definition [ fhir:value "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:ConceptDefinitionComponent.code [ fhir:value "epi-alt-dna" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Epigenetic Alterations -DNA methylation" ];
     fhir:ConceptDefinitionComponent.definition [ fhir:value "Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "fam-var-segr" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Familial variant segregation" ];
     fhir:ConceptDefinitionComponent.definition [ fhir:value "Determining if a variant identified in an individual is present in other family members" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "func-var" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Functional variation detection" ];
     fhir:ConceptDefinitionComponent.definition [ fhir:value "Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "gene-expression" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Gene expression profiling" ];
     fhir:ConceptDefinitionComponent.definition [ fhir:value "Measurement and characterization of activity from all gene products" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "post-trans-mod" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Post-translational Modification Identification" ];
     fhir:ConceptDefinitionComponent.definition [ fhir:value "Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "snp" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "SNP Detection" ];
     fhir:ConceptDefinitionComponent.definition [ fhir:value "Determination of which nucleotide is base present at a known variable location of the genomic sequence" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "str" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "STR count" ];
     fhir:ConceptDefinitionComponent.definition [ fhir:value "Quantification of the number of sequential microsatellite units in a repetitive sequence region" ]
  ], [
     fhir:ConceptDefinitionComponent.code [ fhir:value "struc-var" ];
     fhir:ConceptDefinitionComponent.display [ fhir:value "Structural variation detection" ];
     fhir:ConceptDefinitionComponent.definition [ fhir:value "Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence" ]
  ] .

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