<status value="draft" /> <experimental value="false" /> <date value="2017-05-20T00:00:00+00:00" /> <publisher value="HL7 Clinical Genomics WG" /> <description value="Observation-related profiles" /> <fhirVersion value="4.0.1" /> <mapping> <identity value="v2-cg-results" /> <uri value="http://unknown.org/V2-CG-Results" /> <name value="V2-CG-Results" /> </mapping> <mapping> <identity value="workflow" /> <uri value="http://hl7.org/fhir/workflow" /> <name value="Workflow Pattern" /> </mapping> <mapping> <identity value="sct-concept" /> <uri value="http://snomed.info/conceptdomain" /> <name value="SNOMED CT Concept Domain Binding" /> </mapping> <mapping> <identity value="v2" /> <uri value="http://hl7.org/v2" /> <name value="HL7 v2 Mapping" /> </mapping> <mapping> <identity value="rim" /> <uri value="http://hl7.org/v3" /> <name value="RIM Mapping" /> </mapping> <mapping> <identity value="w5" /> <uri value="http://hl7.org/fhir/fivews" /> <name value="FiveWs Pattern Mapping" /> </mapping> <mapping> <identity value="sct-attr" /> <uri value="http://snomed.org/attributebinding" /> <name value="SNOMED CT Attribute Binding" /> </mapping> <kind value="resource" /> <abstract value="false" /> <type value="Observation" /> <baseDefinition value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-base" /> <derivation value="constraint" /> <snapshot /> <differential> <element id="Observation"> <path value="Observation" /> <short value="Overall Interpretation" /> <definition value="Provides a coarse overall interpretation of the genetic results reported." /> <comment value="Reported when mutation analysis (sequencing or targeted mutations) is done. Equivalent SCT codes are or will be available for LA codes in this guide. More detailed interpretations are also associated with each distinct reported variant." /> <mustSupport value="false" /> </element> <element id="Observation.code"> <path value="Observation.code" /> <short value="Discrete variation analysis overall interpretation" /> <definition value="Interpretation of all identified DNA Markers and/or Individual Alleles along with any known clinical information for the benefit of aiding clinicians in understanding the results overall. This is used for Symptomatic or Asymptomatic testing other than Carrier testing." /> <min value="1" /> <max value="1" /> <type> <code value="CodeableConcept" /> </type> <patternCodeableConcept> <coding> <system value="http://loinc.org" /> <code value="51968-6" /> </coding> </patternCodeableConcept> <mustSupport value="false" /> </element> <element id="Observation.valueCodeableConcept"> <path value="Observation.valueCodeableConcept" /> <short value="Positive | Negative | Inconclusive | Failure" /> <definition value="Discrete variation analysis overall interpretation." /> <min value="1" /> <max value="1" /> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <binding> <strength value="preferred" /> <description value="Overall genetic assessment values" /> <valueSet value="http://loinc.org/vs/LL541-4" /> </binding> <mapping> <identity value="v2-cg-results" /> <map value="A.8" /> </mapping> </element> <element id="Observation.specimen"> <path value="Observation.specimen" /> <short value="Specimen examined" /> <definition value="The specimen examined to determine genetic information." /> <mustSupport value="false" /> </element> </differential> </StructureDefinition>

Name	Card.	Type	Description & Constraints
Observation	0 .. *		Overall Interpretation
code	1..1	CodeableConcept	Discrete variation analysis overall interpretation Required Pattern: At least the following
coding	1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system	1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code	1..1	code	Symbol in syntax defined by the system Fixed Value: 51968-6
valueCodeableConcept	1..1	CodeableConcept	Positive \| Negative \| Inconclusive \| Failure Binding: LOINC Answer List LL541-4 (preferred)
specimen	0 .. 1	Reference(Specimen)	Specimen examined
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