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Resource CodeSystem/FHIR Server from package hl7.fhir.uv.genomics-reporting#current (78 ms)

Package hl7.fhir.uv.genomics-reporting
Type CodeSystem
Id Id
FHIR Version R4
Source http://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/CodeSystem-genomic-study-type-cs.html
Url http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs
Version 3.0.1-SNAPSHOT
Status active
Date 2024-10-08T22:32:57+00:00
Name GenomicStudyTypeCS
Title Genomic Study Type CodeSystem
Experimental True
Realm uv
Authority hl7
Description Backport of http://hl7.org/fhir/genomicstudy-type
Content complete

Resources that use this resource

ValueSet
genomic-study-type-vs Genomic Study Type ValueSet

Resources that this resource uses

No resources found



Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: CodeSystem genomic-study-type-cs

This case-sensitive code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs defines the following codes:

CodeDisplayDefinition
alt-splc Alternative splicing detectionIdentification of multiple different processed mRNA transcripts from the same DNA template
chromatin Chromatin conformationAnalysis of the spacial organization of chromatin within a cell
cnv CNV detectionDetection 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
epi-alt-hist Epigenetic Alterations - histone modificationsDetection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression
epi-alt-dna Epigenetic Alterations -DNA methylationDetection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription
fam-var-segr Familial variant segregationDetermining if a variant identified in an individual is present in other family members
func-var Functional variation detectionDetection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence
gene-expression Gene expression profilingMeasurement and characterization of activity from all gene products
post-trans-mod Post-translational Modification IdentificationDetection of biochemical modifications covalently bound to the amino acid monomers of a processed protein
snp SNP DetectionDetermination of which nucleotide is base present at a known variable location of the genomic sequence
str STR countQuantification of the number of sequential microsatellite units in a repetitive sequence region
struc-var Structural variation detectionDetection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence

Source

{
  "resourceType" : "CodeSystem",
  "id" : "genomic-study-type-cs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem genomic-study-type-cs</b></p><a name=\"genomic-study-type-cs\"> </a><a name=\"hcgenomic-study-type-cs\"> </a><a name=\"genomic-study-type-cs-en-US\"> </a><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs</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=\"genomic-study-type-cs-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=\"genomic-study-type-cs-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=\"genomic-study-type-cs-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=\"genomic-study-type-cs-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=\"genomic-study-type-cs-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=\"genomic-study-type-cs-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=\"genomic-study-type-cs-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=\"genomic-study-type-cs-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=\"genomic-study-type-cs-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=\"genomic-study-type-cs-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=\"genomic-study-type-cs-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=\"genomic-study-type-cs-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>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    }
  ],
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs",
  "version" : "3.0.1-SNAPSHOT",
  "name" : "GenomicStudyTypeCS",
  "title" : "Genomic Study Type CodeSystem",
  "status" : "active",
  "experimental" : true,
  "date" : "2024-10-08T22:32:57+00:00",
  "publisher" : "HL7 International / Clinical Genomics",
  "contact" : [
    {
      "name" : "HL7 International / Clinical Genomics",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/clingenomics"
        },
        {
          "system" : "email",
          "value" : "cg@lists.HL7.org"
        }
      ]
    }
  ],
  "description" : "Backport of http://hl7.org/fhir/genomicstudy-type",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "caseSensitive" : true,
  "content" : "complete",
  "count" : 12,
  "concept" : [
    {
      "code" : "alt-splc",
      "display" : "Alternative splicing detection",
      "definition" : "Identification of multiple different processed mRNA transcripts from the same DNA template"
    },
    {
      "code" : "chromatin",
      "display" : "Chromatin conformation",
      "definition" : "Analysis of the spacial organization of chromatin within a cell"
    },
    {
      "code" : "cnv",
      "display" : "CNV detection",
      "definition" : "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"
    },
    {
      "code" : "epi-alt-hist",
      "display" : "Epigenetic Alterations - histone modifications",
      "definition" : "Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression"
    },
    {
      "code" : "epi-alt-dna",
      "display" : "Epigenetic Alterations -DNA methylation",
      "definition" : "Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription"
    },
    {
      "code" : "fam-var-segr",
      "display" : "Familial variant segregation",
      "definition" : "Determining if a variant identified in an individual is present in other family members"
    },
    {
      "code" : "func-var",
      "display" : "Functional variation detection",
      "definition" : "Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence"
    },
    {
      "code" : "gene-expression",
      "display" : "Gene expression profiling",
      "definition" : "Measurement and characterization of activity from all gene products"
    },
    {
      "code" : "post-trans-mod",
      "display" : "Post-translational Modification Identification",
      "definition" : "Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein"
    },
    {
      "code" : "snp",
      "display" : "SNP Detection",
      "definition" : "Determination of which nucleotide is base present at a known variable location of the genomic sequence"
    },
    {
      "code" : "str",
      "display" : "STR count",
      "definition" : "Quantification of the number of sequential microsatellite units in a repetitive sequence region"
    },
    {
      "code" : "struc-var",
      "display" : "Structural variation detection",
      "definition" : "Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence"
    }
  ]
}

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