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

: Phenopacket (static snapshot of clinical findings to support differential diagnosis of a child with developmental delay). - JSON Representation

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{
  "resourceType" : "Composition",
  "id" : "DevelopmentalDelay",
  "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=\"DevelopmentalDelay\"> </a><a name=\"hcDevelopmentalDelay\"> </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;DevelopmentalDelay&quot; </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Phenopacket.html\">Phenopacket profile</a></p></div><p><b>identifier</b>: id.treatment.1</p><p><b>status</b>: preliminary</p><p><b>type</b>: Physician Episode of care medical records <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#11516-2)</span></p><p><b>date</b>: 2018-03-16</p><p><b>author</b>: <a href=\"Practitioner-PeterGeneticist.html\">Practitioner/PeterGeneticist</a> &quot; GENETICIST&quot;</p><p><b>title</b>: Phenopacket (static snapshot of clinical findings to support differential diagnosis of a child with developmental delay).</p></div>"
  },
  "identifier" : {
    "value" : "id.treatment.1"
  },
  "status" : "preliminary",
  "type" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "11516-2",
        "display" : "Physician Episode of care medical records"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/Proband1"
  },
  "date" : "2018-03-16",
  "author" : [
    {
      🔗 "reference" : "Practitioner/PeterGeneticist"
    }
  ],
  "title" : "Phenopacket (static snapshot of clinical findings to support differential diagnosis of a child with developmental delay).",
  "section" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type",
            "code" : "phenotypic_features"
          }
        ]
      },
      "entry" : [
        {
          🔗 "reference" : "Observation/longPhiltrum"
        },
        {
          🔗 "reference" : "Observation/microphthalmia"
        },
        {
          🔗 "reference" : "Observation/retinalDetachment"
        },
        {
          🔗 "reference" : "Observation/tga"
        },
        {
          🔗 "reference" : "Observation/reducedVisualAcuity"
        },
        {
          🔗 "reference" : "Observation/lowSetEars"
        },
        {
          🔗 "reference" : "Observation/globalDevelopmentalDelay"
        },
        {
          🔗 "reference" : "Observation/muscleWeakness"
        },
        {
          🔗 "reference" : "Observation/hypotonia"
        },
        {
          🔗 "reference" : "Observation/amyotrophy"
        },
        {
          🔗 "reference" : "Observation/hp.0003557"
        }
      ]
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type",
            "code" : "biosamples"
          }
        ]
      },
      "entry" : [
        {
          🔗 "reference" : "Specimen/biosample.specimen.id.2"
        }
      ]
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/section-type",
            "code" : "diseases"
          }
        ]
      },
      "entry" : [
        {
          🔗 "reference" : "Condition/intellectualDisabilityDisease"
        }
      ]
    }
  ]
}