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Packagehl7.fhir.uv.xver-r5.r4.r4b
Resource TypeCodeSystem
IdCodeSystem-genomicstudy-changetype.json
FHIR VersionR4B

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Narrative

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

This code system http://hl7.org/fhir/genomicstudy-changetype defines the following codes:

Code Display Definition
DNA DNA change Change that involves Deoxyribonucleic acid (DNA) sequences.
RNA RNA change Change that involves Ribonucleic Acid (RNA) sequences.
AA Protein/amino Acids change Change that involves Amino Acid (AA) or protein sequences.
CHR Chromosomal changes Change that involves number or strcture of chromosomes.
CNV Copy number variations Change that involves copy number variations among various genomes.

Source1

{
  "resourceType": "CodeSystem",
  "id": "genomicstudy-changetype",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode": "trial-use"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger": 1
    },
    {
      "extension": [
        {
          "url": "packageId",
          "valueId": "hl7.fhir.uv.xver-r5.r4"
        },
        {
          "url": "version",
          "valueString": "0.0.1-snapshot-2"
        }
      ],
      "url": "http://hl7.org/fhir/StructureDefinition/package-source"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "cg"
    }
  ],
  "url": "http://hl7.org/fhir/genomicstudy-changetype",
  "version": "5.0.0",
  "name": "GenomicStudyChangeType",
  "title": "Genomic Study Change Type",
  "status": "active",
  "experimental": true,
  "date": "2022-08-18T06:48:24+10:00",
  "publisher": "Clinical Genomics",
  "contact": [
    {
      "name": "Clinical Genomics",
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        }
      ]
    }
  ],
  "description": "The change type relevant to GenomicStudy analysis.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code": "001",
          "display": "World"
        }
      ]
    }
  ],
  "caseSensitive": true,
  "valueSet": "http://hl7.org/fhir/ValueSet/genomicstudy-changetype",
  "content": "complete",
  "concept": [
    {
      "code": "DNA",
      "display": "DNA change",
      "definition": "Change that involves Deoxyribonucleic acid (DNA) sequences."
    },
    {
      "code": "RNA",
      "display": "RNA change",
      "definition": "Change that involves Ribonucleic Acid (RNA) sequences."
    },
    {
      "code": "AA",
      "display": "Protein/amino Acids change",
      "definition": "Change that involves Amino Acid (AA) or protein sequences."
    },
    {
      "code": "CHR",
      "display": "Chromosomal changes",
      "definition": "Change that involves number or strcture of chromosomes."
    },
    {
      "code": "CNV",
      "display": "Copy number variations",
      "definition": "Change that involves copy number variations among various genomes."
    }
  ]
}