Genomics Reporting Implementation Guide
3.0.0 - release International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: therapuDrug1-interact-smn1-smn2 - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="therapuDrug1-interact-smn1-smn2"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"/>
  </meta>
  <text>
    <status value="extensions"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation therapuDrug1-interact-smn1-smn2</b></p><a name="therapuDrug1-interact-smn1-smn2"> </a><a name="hctherapuDrug1-interact-smn1-smn2"> </a><a name="therapuDrug1-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:">nusinersen (antisense oligonucleotide)</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>
  </text>
  <status value="final"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
    </coding>
  </category>
  <code>
    <coding>
      <system
              value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
      <code value="therapeutic-implication"/>
    </coding>
  </code>
  <subject>
    <display value="A Newborn"/>
  </subject>
  <effectiveDateTime value="2019-04-01"/>
  <performer>🔗 
    <reference value="Organization/ExampleOrg"/>
  </performer>
  <derivedFrom>🔗 
    <reference value="Observation/obs1-interact-smn1-smn2"/>
  </derivedFrom>
  <derivedFrom>🔗 
    <reference value="Observation/obs2-interact-smn1-smn2"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81259-4"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://snomed.info/sct"/>
        <code value="5262007"/>
        <display value="Spinal muscular atrophy (disorder)"/>
      </coding>
      <text value="Spinal muscular atrophy (SMA)"/>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="51963-7"/>
        <display value="Medication assessed"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <text value="nusinersen (antisense oligonucleotide)"/>
    </valueCodeableConcept>
  </component>
  <component>
    <extension
               url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent">
      <valueRelatedArtifact>
        <type value="citation"/>
        <url value="https://pubmed.ncbi.nlm.nih.gov/29614695/"/>
      </valueRelatedArtifact>
    </extension>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
        <code value="conclusion-string"/>
      </coding>
    </code>
    <valueString
                 value="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"/>
  </component>
</Observation>