Name Flags Card. Type Description & Constraints doco
. . Observation 0 .. * Finding
. . . specimen 0..1 Reference(Specimen) Specimen examined
. . . component 0 .. * (Slice Definition) Slice: Unordered, Open by pattern:code
. . . . component:gene-studied 0..* BackboneElement Gene studied ID
. . . . . 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: 48018-6
. . . . . value[x] 1..1 CodeableConcept If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
Binding: HGNC (extensible)
. . . . component:cytogenetic-location 0..* BackboneElement Cytogenetic (chromosome) location
. . . . . 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: 48001-2
. . . . . value[x] 1..1 CodeableConcept Binding: (unbound) (example)
. . . . component:ref-sequence-assembly 0..* BackboneElement Human reference sequence assembly version
. . . . . 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: 62374-4
. . . . . value[x] 1..1 CodeableConcept Binding: LOINC Answer List LL1040-6 (extensible)

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/genomics-base" /> <derivation value="constraint" /> <snapshot /> <differential> <element id="Observation"> <path value="Observation" /> <short value="Finding" /> <definition value="Properties common to genetic findings whose results are expressed as computable discrete elements (e.g. genotypes, haplotypes, variants, etc.)." /> <comment value="Defines those properties that are common for all findings of genetic characteristics - namely genotype, haplotype and any of the types of variants." /> <mustSupport value="false" /> </element> <element id="Observation.specimen"> <path value="Observation.specimen" /> <short value="Specimen examined" /> <definition value="The specimen examined to determine genetic information." /> <min value="0" /> <max value="1" /> <mustSupport value="false" /> </element> <element id="Observation.component"> <path value="Observation.component" /> <slicing> <discriminator> <type value="pattern" /> <path value="code" /> </discriminator> <rules value="open" /> </slicing> <mustSupport value="false" /> </element> <element id="Observation.component:gene-studied"> <path value="Observation.component" /> <sliceName value="gene-studied" /> <short value="Gene studied ID" /> <definition value="HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in multiple gene studied components . The required coding will use the HGNC gene symbol as the display text and HGNC gene ID as the code." /> <min value="0" /> <max value="*" /> <mustSupport value="false" /> </element> <element id="Observation.component:gene-studied.code"> <path value="Observation.component.code" /> <min value="1" /> <max value="1" /> <type> <code value="CodeableConcept" /> </type> <patternCodeableConcept> <coding> <system value="http://loinc.org" /> <code value="48018-6" /> </coding> </patternCodeableConcept> <mustSupport value="false" /> </element> <element id="Observation.component:gene-studied.value[x]"> <path value="Observation.component.value[x]" /> <short value="If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used." /> <min value="1" /> <max value="1" /> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <binding> <strength value="extensible" /> <description value="HGNC: Human Gene Nomenclature Committee" /> <valueSet value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc" /> </binding> <mapping> <identity value="v2-cg-results" /> <map value="A.4" /> </mapping> </element> <element id="Observation.component:cytogenetic-location"> <path value="Observation.component" /> <sliceName value="cytogenetic-location" /> <short value="Cytogenetic (chromosome) location" /> <min value="0" /> <max value="*" /> <mustSupport value="false" /> </element> <element id="Observation.component:cytogenetic-location.code"> <path value="Observation.component.code" /> <min value="1" /> <max value="1" /> <type> <code value="CodeableConcept" /> </type> <patternCodeableConcept> <coding> <system value="http://loinc.org" /> <code value="48001-2" /> </coding> </patternCodeableConcept> <mustSupport value="false" /> </element> <element id="Observation.component:cytogenetic-location.value[x]"> <path value="Observation.component.value[x]" /> <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="B.17" /> </mapping> </element> <element id="Observation.component:ref-sequence-assembly"> <path value="Observation.component" /> <sliceName value="ref-sequence-assembly" /> <short value="Human reference sequence assembly version" /> <min value="0" /> <max value="*" /> <mustSupport value="false" /> </element> <element id="Observation.component:ref-sequence-assembly.code"> <path value="Observation.component.code" /> <min value="1" /> <max value="1" /> <type> <code value="CodeableConcept" /> </type> <patternCodeableConcept> <coding> <system value="http://loinc.org" /> <code value="62374-4" /> </coding> </patternCodeableConcept> <mustSupport value="false" /> </element> <element id="Observation.component:ref-sequence-assembly.value[x]"> <path value="Observation.component.value[x]" /> <min value="1" /> <max value="1" /> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <binding> <strength value="extensible" /> <description value="Human reference sequence NCBI build IDs" /> <valueSet value="http://loinc.org/vs/LL1040-6" /> </binding> </element> </differential> </StructureDefinition>