FHIR IG Statistics: CodeSystem/genomic-study-type-cs

Resources that use this resource

Resources that this resource uses

No resources found

Narrative

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

Source

{
  "resourceType": "CodeSystem",
  "id": "genomic-study-type-cs",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "cg"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode": "informative",
      "_valueCode": {
        "extension": [
          {
            "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
          }
        ]
      }
    }
  ],
  "url": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-type-cs",
  "version": "4.0.0-ballot",
  "name": "GenomicStudyTypeCS",
  "title": "Genomic Study Type CodeSystem",
  "status": "active",
  "experimental": true,
  "date": "2025-06-24T17:31:37+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"
    }
  ]
}