<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/finding" /> <derivation value="constraint" /> <snapshot /> <differential> <element id="Observation"> <path value="Observation" /> <short value="Genotype" /> <definition value="A finding that a patient has a specific genotype." /> <mustSupport value="false" /> </element> <element id="Observation.code"> <path value="Observation.code" /> <min value="1" /> <max value="1" /> <type> <code value="CodeableConcept" /> </type> <patternCodeableConcept> <coding> <system value="http://loinc.org" /> <code value="84413-4" /> </coding> </patternCodeableConcept> <mustSupport value="false" /> </element> <element id="Observation.valueCodeableConcept"> <path value="Observation.valueCodeableConcept" /> <short value="Genotype display name/code" /> <min value="1" /> <max value="1" /> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <binding> <strength value="example" /> <description value="Binding not yet defined" /> </binding> <mapping> <identity value="v2-cg-results" /> <map value="F.2" /> </mapping> </element> <element id="Observation.derivedFrom"> <path value="Observation.derivedFrom" /> <slicing> <discriminator> <type value="pattern" /> <path value="resolve().code" /> </discriminator> <rules value="open" /> </slicing> <definition value="variant, haplotype, or MolecularSequence from which this genotype is derived." /> <min value="0" /> <max value="*" /> <mustSupport value="false" /> </element> <element id="Observation.derivedFrom:haplotype"> <path value="Observation.derivedFrom" /> <sliceName value="haplotype" /> <definition value="Haplotype from which this genotype is derived." /> <min value="0" /> <max value="*" /> <type> <code value="Reference" /> <targetProfile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype" /> </type> <mustSupport value="false" /> </element> <element id="Observation.derivedFrom:variant"> <path value="Observation.derivedFrom" /> <sliceName value="variant" /> <definition value="Variant from which this genotype is derived." /> <min value="0" /> <max value="*" /> <type> <code value="Reference" /> <targetProfile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" /> </type> <mustSupport value="false" /> </element> </differential> </StructureDefinition>

Name	Card.	Type	Description & Constraints
Observation	0 .. *		Genotype
code	1..1	CodeableConcept	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: 84413-4
valueCodeableConcept	1..1	CodeableConcept	Genotype display name/code Binding: (unbound) (example)
derivedFrom	0 .. *	(Slice Definition)	Slice: Unordered, Open by pattern:resolve().code
derivedFrom:haplotype	0..*	Reference(Haplotype)
derivedFrom:variant	0..*	Reference(Variant)
Documentation for this format