Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions

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: Molecular Definition Representation Focus

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{
  "resourceType" : "CodeSystem",
  "id" : "moleculardefinition-representation-focus",
  "meta" : {
    "lastUpdated" : "2025-01-30T00:00:00Z",
    "profile" : [
      🔗 "http://hl7.org/fhir/StructureDefinition/shareablecodesystem"
    ]
  },
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem moleculardefinition-representation-focus</b></p><a name=\"moleculardefinition-representation-focus\"> </a><a name=\"hcmoleculardefinition-representation-focus\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Last updated: 2025-01-30 00:00:00+0000</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"http://hl7.org/fhir/R5/shareablecodesystem.html\">Shareable CodeSystem</a></p></div><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus</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\">allele-state<a name=\"moleculardefinition-representation-focus-allele-state\"> </a></td><td>Allele State</td><td>The representation defines the state of an allele at a genomic location.</td></tr><tr><td style=\"white-space:nowrap\">context-state<a name=\"moleculardefinition-representation-focus-context-state\"> </a></td><td>Context State</td><td>The representation defines the state of the genomic sequence context or background for the allele.</td></tr><tr><td style=\"white-space:nowrap\">reference-state<a name=\"moleculardefinition-representation-focus-reference-state\"> </a></td><td>Reference State</td><td>The representation defines the reference state of the sequence at a genomic location.</td></tr><tr><td style=\"white-space:nowrap\">alternative-state<a name=\"moleculardefinition-representation-focus-alternative-state\"> </a></td><td>Alternative State</td><td>The representation defines an alternative state of the sequence at a genomic location.</td></tr></table></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode" : "informative"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger" : 1
    }
  ],
  "url" : "http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus",
  "identifier" : [
    {
      "system" : "urn:ietf:rfc:3986",
      "value" : "urn:oid:2.16.840.1.113883.4.642.4.2050"
    }
  ],
  "version" : "0.1.0-ci-build",
  "name" : "MolecularDefinitionRepresentationFocus",
  "title" : "Molecular Definition Representation Focus",
  "status" : "draft",
  "experimental" : true,
  "date" : "2025-01-30",
  "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" : "clingenomics@lists.hl7.org"
        }
      ]
    }
  ],
  "description" : "The domain concept that is the focus of the representation in a MolecularDefinition. This element is used to disambiguate the representations of different alleles or states at a given location.",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "caseSensitive" : true,
  "valueSet" : "http://hl7.org/fhir/uv/cg-incubator/ValueSet/moleculardefinition-representation-focus",
  "content" : "complete",
  "concept" : [
    {
      "code" : "allele-state",
      "display" : "Allele State",
      "definition" : "The representation defines the state of an allele at a genomic location."
    },
    {
      "code" : "context-state",
      "display" : "Context State",
      "definition" : "The representation defines the state of the genomic sequence context or background for the allele."
    },
    {
      "code" : "reference-state",
      "display" : "Reference State",
      "definition" : "The representation defines the reference state of the sequence at a genomic location."
    },
    {
      "code" : "alternative-state",
      "display" : "Alternative State",
      "definition" : "The representation defines an alternative state of the sequence at a genomic location."
    }
  ]
}