{ "resourceType": "StructureDefinition", "id": "sequence-phase-relationship", "meta": { "lastUpdated": "2019-12-20T21:26:27.683+00:00" }, "text": { "status": "generated", "div": "
NameFlagsCard.TypeDescription & Constraints\"doco\"
\".\"\".\"Observation0..*Sequence Phase Reltionship
\".\"\".\"\".\"code1..1CodeableConceptRequired Pattern: At least the following
\".\"\".\"\".\"\".\"coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
\".\"\".\"\".\"\".\"\".\"system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
\".\"\".\"\".\"\".\"\".\"code1..1codeSymbol in syntax defined by the system
Fixed Value: 82120-7
\".\"\".\"\".\"valueCodeableConcept1..1CodeableConceptCis | Trans | Unknown
Binding: seq-phase-relationship (required)
\".\"\".\"\".\"method0..1CodeableConceptPhase determination method
Binding: LOINC Answer List LL4050-2 (extensible)
\".\"\".\"\".\"derivedFrom1..*(Slice Definition)Slice: Unordered, Open by pattern:resolve().code
\".\"\".\"\".\"\".\"derivedFrom:haplotype0..*Reference(Haplotype)
\".\"\".\"\".\"\".\"derivedFrom:variant0..*Reference(Variant)

\"doco\" Documentation for this format
" }, "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/sequence-phase-relationship", "version": "1.0.0", "name": "SequencePhaseRelationship", "title": "Sequence Phase Reltionship", "status": "draft", "experimental": false, "date": "2017-05-20T00:00:00+00:00", "publisher": "HL7 Clinical Genomics WG", "description": "Observation-related profiles", "fhirVersion": "4.0.1", "mapping": [ { "identity": "v2-cg-results", "uri": "http://unknown.org/V2-CG-Results", "name": "V2-CG-Results" }, { "identity": "workflow", "uri": "http://hl7.org/fhir/workflow", "name": "Workflow Pattern" }, { "identity": "sct-concept", "uri": "http://snomed.info/conceptdomain", "name": "SNOMED CT Concept Domain Binding" }, { "identity": "v2", "uri": "http://hl7.org/v2", "name": "HL7 v2 Mapping" }, { "identity": "rim", "uri": "http://hl7.org/v3", "name": "RIM Mapping" }, { "identity": "w5", "uri": "http://hl7.org/fhir/fivews", "name": "FiveWs Pattern Mapping" }, { "identity": "sct-attr", "uri": "http://snomed.org/attributebinding", "name": "SNOMED CT Attribute Binding" } ], "kind": "resource", "abstract": false, "type": "Observation", "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/finding", "derivation": "constraint", "snapshot": {}, "differential": { "element": [ { "id": "Observation", "path": "Observation", "short": "Sequence Phase Reltionship", "definition": "Indicates whether entities are in Cis (same strand) or Trans (opposite strand) relationship to each other.", "mustSupport": false }, { "id": "Observation.code", "path": "Observation.code", "min": 1, "max": "1", "type": [ { "code": "CodeableConcept" } ], "patternCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "82120-7" } ] }, "mustSupport": false }, { "id": "Observation.valueCodeableConcept", "path": "Observation.valueCodeableConcept", "short": "Cis | Trans | Unknown", "min": 1, "max": "1", "type": [ { "code": "CodeableConcept" } ], "mustSupport": false, "binding": { "strength": "required", "description": "Sequence Phase Relationship Types", "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/seq-phase-relationship" }, "mapping": [ { "identity": "v2-cg-results", "map": "A.11" } ] }, { "id": "Observation.method", "path": "Observation.method", "short": "Phase determination method", "definition": "Indicates the method used to determine the phase.", "min": 0, "max": "1", "mustSupport": false, "binding": { "strength": "extensible", "description": "Allelic phase basis values", "valueSet": "http://loinc.org/vs/LL4050-2" } }, { "id": "Observation.derivedFrom", "path": "Observation.derivedFrom", "slicing": { "discriminator": [ { "type": "pattern", "path": "resolve().code" } ], "rules": "open" }, "definition": "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": 1, "max": "*", "mustSupport": false }, { "id": "Observation.derivedFrom:haplotype", "path": "Observation.derivedFrom", "sliceName": "haplotype", "definition": "Haplotype from which this phase relationship is derived.", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype" ] } ], "mustSupport": false }, { "id": "Observation.derivedFrom:variant", "path": "Observation.derivedFrom", "sliceName": "variant", "definition": "Variant from which this phase relationship is derived.", "min": 0, "max": "*", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ] } ], "mustSupport": false } ] } }