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

: A valid phenotypic abnormality Observation example. - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "phenotypic-abnormality-valid-1",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation </b><a name=\"phenotypic-abnormality-valid-1\"> </a><a name=\"hcphenotypic-abnormality-valid-1\"> </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\">ResourceObservation &quot;phenotypic-abnormality-valid-1&quot; </p></div><p><b>status</b>: final</p><p><b>code</b>: Intellectual disability <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0001249)</span></p><p><b>value</b>: true</p><blockquote><p><b>component</b></p><p><b>code</b>: Severity <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0012824)</span></p><p><b>value</b>: Mild <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0012825)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Clinical modifier <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0012823)</span></p><p><b>value</b>: Worse in evening <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0410401)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Onset <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0003674)</span></p><p><b>value</b>: Congenital onset <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0003577)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Onset <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0003674)</span></p><p><b>value</b>: 0 Day<span style=\"background: LightGoldenRodYellow\"> (Details: system  codeDay = 'Day')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Severity <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (OTHER#OTHER)</span></p><p><b>value</b>: Mild <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (OTHER#OTHERTHING)</span></p></blockquote></div>"
  },
  "status" : "final",
  "code" : {
    "coding" : [
      {
        "system" : "http://human-phenotype-ontology.org",
        "code" : "HP:0001249",
        "display" : "Intellectual disability"
      }
    ],
    "text" : "Intellectual disability"
  },
  "valueBoolean" : true,
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://human-phenotype-ontology.org",
            "code" : "HP:0012824",
            "display" : "Severity"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://human-phenotype-ontology.org",
            "code" : "HP:0012825",
            "display" : "Mild"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://human-phenotype-ontology.org",
            "code" : "HP:0012823",
            "display" : "Clinical modifier"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://human-phenotype-ontology.org",
            "code" : "HP:0410401",
            "display" : "Worse in evening"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://human-phenotype-ontology.org",
            "code" : "HP:0003674",
            "display" : "Onset"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://human-phenotype-ontology.org",
            "code" : "HP:0003577",
            "display" : "Congenital onset"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://human-phenotype-ontology.org",
            "code" : "HP:0003674",
            "display" : "Onset"
          }
        ]
      },
      "valueQuantity" : {
        "value" : 0,
        "unit" : "Day",
        "system" : "http://some/unit/system",
        "code" : "Day"
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://github.com/phenopackets/core-ig/CodeSystem/OTHER",
            "code" : "OTHER",
            "display" : "Severity"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://github.com/phenopackets/core-ig/CodeSystem/OTHER",
            "code" : "OTHERTHING",
            "display" : "Mild"
          }
        ]
      }
    }
  ]
}