Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: therapuDrug2-interact-smn1-smn2 - JSON Representation

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{
  "resourceType" : "Observation",
  "id" : "therapuDrug2-interact-smn1-smn2",
  "meta" : {
    "profile" : [
      🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"
    ]
  },
  "text" : {
    "status" : "extensions",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation therapuDrug2-interact-smn1-smn2</b></p><a name=\"therapuDrug2-interact-smn1-smn2\"> </a><a name=\"hctherapuDrug2-interact-smn1-smn2\"> </a><a name=\"therapuDrug2-interact-smn1-smn2-en-US\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></p><p><b>subject</b>: A Newborn</p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href=\"Organization-ExampleOrg.html\">Organization some lab</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Observation-obs1-interact-smn1-smn2.html\">Observation Genetic variant assessment</a></li><li><a href=\"Observation-obs2-interact-smn1-smn2.html\">Observation Genetic variant assessment</a></li></ul><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 5262007}\">Spinal muscular atrophy (SMA)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51963-7}\">Medication assessed</span></p><p><b>value</b>: <span title=\"Codes:\">onasemnogene abeparvovec (transgene)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>Related Artifact for Observation component</b>: No display for RelatedArtifact  (type: citation; url: https://pubmed.ncbi.nlm.nih.gov/29614695/)</p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs conclusion-string}\">Conclusion Text</span></p><p><b>value</b>: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). In humans, a nearly identical copy gene, SMN2, is present. Because SMN2 has been shown to decrease disease severity in a dose-dependent manner, SMN2 copy number is predictive of disease severity...The overarching recommendation is that all infants with two or three copies of SMN2 should receive immediate treatment</p></blockquote></div>"
  },
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory"
        }
      ]
    },
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "therapeutic-implication"
      }
    ]
  },
  "subject" : {
    "display" : "A Newborn"
  },
  "effectiveDateTime" : "2019-04-01",
  "performer" : [
    {
      🔗 "reference" : "Organization/ExampleOrg"
    }
  ],
  "derivedFrom" : [
    {
      🔗 "reference" : "Observation/obs1-interact-smn1-smn2"
    },
    {
      🔗 "reference" : "Observation/obs2-interact-smn1-smn2"
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "81259-4"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://snomed.info/sct",
            "code" : "5262007",
            "display" : "Spinal muscular atrophy (disorder)"
          }
        ],
        "text" : "Spinal muscular atrophy (SMA)"
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "51963-7",
            "display" : "Medication assessed"
          }
        ]
      },
      "valueCodeableConcept" : {
        "text" : "onasemnogene abeparvovec (transgene)"
      }
    },
    {
      "extension" : [
        {
          "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent",
          "valueRelatedArtifact" : {
            "type" : "citation",
            "url" : "https://pubmed.ncbi.nlm.nih.gov/29614695/"
          }
        }
      ],
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code" : "conclusion-string"
          }
        ]
      },
      "valueString" : "Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). In humans, a nearly identical copy gene, SMN2, is present. Because SMN2 has been shown to decrease disease severity in a dose-dependent manner, SMN2 copy number is predictive of disease severity...The overarching recommendation is that all infants with two or three copies of SMN2 should receive immediate treatment"
    }
  ]
}