Phenomics Exchange for Research and Diagnostics
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Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

: GENO Ontology Allelic State Value Set - JSON Representation

Draft as of 2024-06-18

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{
  "resourceType" : "ValueSet",
  "id" : "geno-ontology-allelic-state-vs",
  "meta" : {
    "profile" : [
      🔗 "http://hl7.org/fhir/StructureDefinition/shareablevalueset"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Include codes from<code>http://www.ebi.ac.uk/ols/ontologies/geno</code> where concept  is-a GENO_0000875</li></ul></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cic"
    }
  ],
  "url" : "http://hl7.org/fhir/uv/phenomics-exchange/ValueSet/geno-ontology-allelic-state-vs",
  "version" : "0.1.0",
  "name" : "GenoOntologyAllelicStateVS",
  "title" : "GENO Ontology Allelic State Value Set",
  "status" : "draft",
  "experimental" : false,
  "date" : "2024-06-18T22:11:07+00:00",
  "publisher" : "HL7 International / Clinical Interoperability Council",
  "contact" : [
    {
      "name" : "HL7 International / Clinical Interoperability Council",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/cic"
        },
        {
          "system" : "email",
          "value" : "cic@lists.HL7.org"
        }
      ]
    }
  ],
  "description" : "Descendent terms of GENO_0000875",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "copyright" : "[Global Alliance for Genomics and Health](https://www.ga4gh.org)",
  "compose" : {
    "include" : [
      {
        "system" : "http://www.ebi.ac.uk/ols/ontologies/geno",
        "filter" : [
          {
            "property" : "concept",
            "op" : "is-a",
            "value" : "GENO_0000875"
          }
        ]
      }
    ]
  }
}