<status value="draft" /> <description value="Base profile that defines characteristics shared by all gene variant observations." /> <fhirVersion value="4.0.1" /> <kind value="resource" /> <abstract value="false" /> <type value="Observation" /> <baseDefinition value="https://fhir.gsilab.id//StructureDefinition/variant" /> <derivation value="constraint" /> <differential> <element id="Observation.meta.profile"> <path value="Observation.meta.profile" /> <fixedCanonical value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" /> </element> <element id="Observation.category"> <path value="Observation.category" /> <slicing> <discriminator> <type value="pattern" /> <path value="coding" /> </discriminator> <rules value="open" /> </slicing> <min value="2" /> </element> <element id="Observation.category:laboratory"> <path value="Observation.category" /> <sliceName value="laboratory" /> <min value="1" /> <max value="1" /> </element> <element id="Observation.category:laboratory.coding"> <path value="Observation.category.coding" /> <min value="1" /> <patternCoding> <system value="http://terminology.hl7.org/CodeSystem/observation-category" /> <code value="laboratory" /> <display value="Laboratory" /> </patternCoding> </element> <element id="Observation.category:genetics"> <path value="Observation.category" /> <sliceName value="genetics" /> <min value="1" /> <max value="1" /> </element> <element id="Observation.category:genetics.coding"> <path value="Observation.category.coding" /> <min value="1" /> <patternCoding> <system value="http://terminology.hl7.org/CodeSystem/v2-0074" /> <code value="GE" /> <display value="Genetics" /> </patternCoding> </element> <element id="Observation.code"> <path value="Observation.code" /> <patternCodeableConcept> <coding> <system value="http://loinc.org" /> <code value="69548-6" /> <display value="Genetic variant assessment" /> </coding> </patternCodeableConcept> </element> <element id="Observation.component"> <path value="Observation.component" /> </element> <element id="Observation.component.code"> <path value="Observation.component.code" /> <definition value="Description of the genomic (gDNA) sequence change using a valid HGVS-formatted string." /> <patternCodeableConcept> <coding> <system value="http://loinc.org" /> <code value="81290-9" /> <display value="Genomic DNA change (gHGVS)" /> </coding> </patternCodeableConcept> </element> <element id="Observation.component.value[x]"> <path value="Observation.component.value[x]" /> <slicing> <discriminator> <type value="type" /> <path value="$this" /> </discriminator> <ordered value="false" /> <rules value="open" /> </slicing> <type> <code value="Quantity" /> </type> <type> <code value="CodeableConcept" /> </type> <type> <code value="string" /> </type> <type> <code value="Range" /> </type> </element> <element id="Observation.component.value[x]:valueCodeableConcept"> <path value="Observation.component.value[x]" /> <sliceName value="valueCodeableConcept" /> <short value="A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup" /> <min value="0" /> <max value="1" /> <type> <code value="CodeableConcept" /> </type> </element> <element id="Observation.component.value[x]:valueCodeableConcept.coding.system"> <path value="Observation.component.value[x].coding.system" /> <fixedUri value="https://varnomen.hgvs.org" /> </element> <element id="Observation.component.value[x]:valueCodeableConcept.coding.code"> <path value="Observation.component.value[x].coding.code" /> <min value="1" /> </element> <element id="Observation.component.value[x]:valueCodeableConcept.coding.display"> <path value="Observation.component.value[x].coding.display" /> <min value="1" /> </element> </differential> </StructureDefinition>