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

: This is an example of a composition resource that represents some of the Phenopackets data elements - JSON Representation

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{
  "resourceType" : "Composition",
  "id" : "PhenopacketCompositionExample01",
  "meta" : {
    "profile" : [
      🔗 "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/Phenopacket"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Composition </b><a name=\"PhenopacketCompositionExample01\"> </a><a name=\"hcPhenopacketCompositionExample01\"> </a></p><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\">ResourceComposition &quot;PhenopacketCompositionExample01&quot; </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Phenopacket.html\">Phenopacket profile</a></p></div><p><b>identifier</b>: <a href=\"http://terminology.hl7.org/5.5.0/NamingSystem-uri.html\" title=\"As defined by RFC 3986 (http://www.ietf.org/rfc/rfc3986.txt)(with many schemes defined in many RFCs). For OIDs and UUIDs, use the URN form (urn:oid:(note: lowercase) and urn:uuid:). See http://www.ietf.org/rfc/rfc3001.txt and http://www.ietf.org/rfc/rfc4122.txt \r\n\r\nThis oid is used as an identifier II.root to indicate the the extension is an absolute URI (technically, an IRI). Typically, this is used for OIDs and GUIDs. Note that when this OID is used with OIDs and GUIDs, the II.extension should start with urn:oid or urn:uuid: \r\n\r\nNote that this OID is created to aid with interconversion between CDA and FHIR - FHIR uses urn:ietf:rfc:3986 as equivalent to this OID. URIs as identifiers appear more commonly in FHIR.\r\n\r\nThis OID may also be used in CD.codeSystem.\">Uniform Resource Identifier (URI)</a>/urn:uuid:1111-1111-1111-1112</p><p><b>status</b>: preliminary</p><p><b>type</b>: Medical records <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#11503-0)</span></p><p><b>date</b>: 2022-02-02</p><p><b>author</b>: <a href=\"Practitioner-PhenopacketPractitionerExample01.html\">Practitioner/PhenopacketPractitionerExample01: John T. Practitioner</a> &quot;&quot;</p><p><b>title</b>: This is an example of a composition resource that represents some of the Phenopackets data elements</p></div>"
  },
  "identifier" : {
    "system" : "urn:ietf:rfc:3986",
    "value" : "urn:uuid:1111-1111-1111-1112"
  },
  "status" : "preliminary",
  "type" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "11503-0",
        "display" : "Medical records"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/example-patient",
    "display" : "Anyname A. Anyperson"
  },
  "date" : "2022-02-02",
  "author" : [
    {
      🔗 "reference" : "Practitioner/PhenopacketPractitionerExample01",
      "display" : "John T. Practitioner"
    }
  ],
  "title" : "This is an example of a composition resource that represents some of the Phenopackets data elements",
  "section" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type",
            "code" : "phenotypic_features"
          }
        ]
      },
      "entry" : [
        {
          🔗 "reference" : "Observation/CHF-with-severity",
          "display" : "Congestive heart failure"
        }
      ]
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type",
            "code" : "measurements"
          }
        ]
      },
      "entry" : [
        {
          🔗 "reference" : "Observation/thrombocytopenia",
          "display" : "Thrombocytopenia"
        }
      ]
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type",
            "code" : "biosamples"
          }
        ]
      },
      "entry" : [
        {
          🔗 "reference" : "Specimen/bladderCarcinoma",
          "display" : "Bladder Carcinoma"
        }
      ]
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type",
            "code" : "interpretations"
          }
        ]
      },
      "entry" : [
        {
          🔗 "reference" : "DiagnosticReport/PhenopacketsGenomicInterpretationExample02",
          "display" : "Obesity due to centrosomal protein 19 deficiency (disorder)"
        }
      ]
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type",
            "code" : "diseases"
          }
        ]
      },
      "entry" : [
        {
          🔗 "reference" : "Condition/CHF-stageIII",
          "display" : "CHF-stageIII"
        }
      ]
    }
  ]
}