Genomic Study Type

• Official URL: http://hl7.org/fhir/genomicstudy-type
• Version: 6.0.0
• Status: draft
• Name: GenomicStudyType
• Title: Genomic Study Type
• Publisher: HL7 (FHIR Project)
• Description: The type relevant to GenomicStudy.
• Case Sensitive: true
• Content: complete

Concepts

CodeSystem XML

<?xml version="1.0" encoding="UTF-8"?>

<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="genomicstudy-type"/>
  <meta>
    <lastUpdated value="2022-08-17T16:18:24.148-05:00"/>

  </meta>
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cg"/>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
    <valueCode value="normative"/>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
    <valueInteger value="1"/>
  </extension>
  <url value="http://hl7.org/fhir/genomicstudy-type"/>
  <identifier>
    <system value="urn:ietf:rfc:3986"/>
    <value value="urn:oid:2.16.840.1.113883.4.642.4.1975"/>
  </identifier>
  <version value="6.0.0"/>
  <name value="GenomicStudyType"/>
  <title value="Genomic Study Type"/>
  <status value="draft"/>
  <experimental value="true"/>
  <date value="2022-08-17T16:19:24-05:00"/>
  <publisher value="HL7 (FHIR Project)"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="http://hl7.org/fhir"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="fhir@lists.hl7.org"/>
    </telecom>
  </contact>
  <description value="The type relevant to GenomicStudy."/>
  <caseSensitive value="true"/>
  <valueSet value="http://hl7.org/fhir/ValueSet/genomicstudy-type"/>
  <content value="complete"/>
  <concept>
    <code value="alt-splc"/>
    <display value="Alternative splicing detection"/>
    <definition value="Identification of multiple different processed mRNA transcripts from the same DNA template"/>
  </concept>
  <concept>
    <code value="chromatin"/>
    <display value="Chromatin conformation"/>
    <definition value="Analysis of the spacial organization of chromatin within a cell"/>
  </concept>
  <concept>
    <code value="cnv"/>
    <display value="CNV detection"/>
    <definition 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"/>
  </concept>
  <concept>
    <code value="epi-alt-hist"/>
    <display value="Epigenetic Alterations - histone modifications"/>
    <definition 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"/>
  </concept>
  <concept>
    <code value="epi-alt-dna"/>
    <display value="Epigenetic Alterations -DNA methylation"/>
    <definition value="Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription"/>
  </concept>
  <concept>
    <code value="fam-var-segr"/>
    <display value="Familial variant segregation"/>
    <definition value="Determining if a variant identified in an individual is present in other family members"/>
  </concept>
  <concept>
    <code value="func-var"/>
    <display value="Functional variation detection"/>
    <definition value="Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence"/>
  </concept>
  <concept>
    <code value="gene-expression"/>
    <display value="Gene expression profiling"/>
    <definition value="Measurement and characterization of activity from all gene products"/>
  </concept>
  <concept>
    <code value="post-trans-mod"/>
    <display value="Post-translational Modification Identification"/>
    <definition value="Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein"/>
  </concept>
  <concept>
    <code value="snp"/>
    <display value="SNP Detection"/>
    <definition value="Determination of which nucleotide is base present at a known variable location of the genomic sequence"/>
  </concept>
  <concept>
    <code value="str"/>
    <display value="STR count"/>
    <definition value="Quantification of the number of sequential microsatellite units in a repetitive sequence region"/>
  </concept>
  <concept>
    <code value="struc-var"/>
    <display value="Structural variation detection"/>
    <definition value="Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence"/>
  </concept>
</CodeSystem>