Name Flags Card. Type Description & Constraints doco
. . Observation 0 .. * Sequence Phase Reltionship
. . . 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: 82120-7
. . . valueCodeableConcept 1..1 CodeableConcept Cis | Trans | Unknown
Binding: seq-phase-relationship (required)
. . . method 0..1 CodeableConcept Phase determination method
Binding: LOINC Answer List LL4050-2 (extensible)
. . . derivedFrom 1 .. * (Slice Definition) Slice: Unordered, Open by pattern:resolve().code
. . . . derivedFrom:haplotype 0..* Reference(Haplotype)
. . . . derivedFrom:variant 0..* Reference(Variant)

doco Documentation for this format
<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="Sequence Phase Reltionship" /> <definition value="Indicates whether entities are in Cis (same strand) or Trans (opposite strand) relationship to each other." /> <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="82120-7" /> </coding> </patternCodeableConcept> <mustSupport value="false" /> </element> <element id="Observation.valueCodeableConcept"> <path value="Observation.valueCodeableConcept" /> <short value="Cis | Trans | Unknown" /> <min value="1" /> <max value="1" /> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <binding> <strength value="required" /> <description value="Sequence Phase Relationship Types" /> <valueSet value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/seq-phase-relationship" /> </binding> <mapping> <identity value="v2-cg-results" /> <map value="A.11" /> </mapping> </element> <element id="Observation.method"> <path value="Observation.method" /> <short value="Phase determination method" /> <definition value="Indicates the method used to determine the phase." /> <min value="0" /> <max value="1" /> <mustSupport value="false" /> <binding> <strength value="extensible" /> <description value="Allelic phase basis values" /> <valueSet value="http://loinc.org/vs/LL4050-2" /> </binding> </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="The haplotypes and/or variants whose configuration is being described - NOTE, implementors must be careful to not describe more observations as in-trans than are appropriate. In a typical diploid, this would be at most two expressed as in-trans with each other. This 0..* relationship allows for any number of items to be expressed as in-cis." /> <min value="1" /> <max value="*" /> <mustSupport value="false" /> </element> <element id="Observation.derivedFrom:haplotype"> <path value="Observation.derivedFrom" /> <sliceName value="haplotype" /> <definition value="Haplotype from which this phase relationship 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 phase relationship 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>