{ "resourceType": "StructureDefinition", "id": "finding", "meta": { "lastUpdated": "2019-12-20T21:26:32.672+00:00" }, "text": { "status": "generated", "div": "
NameFlagsCard.TypeDescription & Constraints\"doco\"
\".\"\".\"Observation0..*Finding
\".\"\".\"\".\"specimen0..1Reference(Specimen)Specimen examined
\".\"\".\"\".\"component0..*(Slice Definition)Slice: Unordered, Open by pattern:code
\".\"\".\"\".\"\".\"component:gene-studied0..*BackboneElementGene studied ID
\".\"\".\"\".\"\".\"\".\"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: 48018-6
\".\"\".\"\".\"\".\"\".\"value[x]1..1CodeableConceptIf no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
Binding: HGNC (extensible)
\".\"\".\"\".\"\".\"component:cytogenetic-location0..*BackboneElementCytogenetic (chromosome) location
\".\"\".\"\".\"\".\"\".\"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: 48001-2
\".\"\".\"\".\"\".\"\".\"value[x]1..1CodeableConceptBinding: (unbound) (example)
\".\"\".\"\".\"\".\"component:ref-sequence-assembly0..*BackboneElementHuman reference sequence assembly version
\".\"\".\"\".\"\".\"\".\"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: 62374-4
\".\"\".\"\".\"\".\"\".\"value[x]1..1CodeableConceptBinding: LOINC Answer List LL1040-6 (extensible)

\"doco\" Documentation for this format
" }, "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/finding", "version": "1.0.0", "name": "Finding", "title": "Finding", "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/genomics-base", "derivation": "constraint", "snapshot": {}, "differential": { "element": [ { "id": "Observation", "path": "Observation", "short": "Finding", "definition": "Properties common to genetic findings whose results are expressed as computable discrete elements (e.g. genotypes, haplotypes, variants, etc.).", "comment": "Defines those properties that are common for all findings of genetic characteristics - namely genotype, haplotype and any of the types of variants.", "mustSupport": false }, { "id": "Observation.specimen", "path": "Observation.specimen", "short": "Specimen examined", "definition": "The specimen examined to determine genetic information.", "min": 0, "max": "1", "mustSupport": false }, { "id": "Observation.component", "path": "Observation.component", "slicing": { "discriminator": [ { "type": "pattern", "path": "code" } ], "rules": "open" }, "mustSupport": false }, { "id": "Observation.component:gene-studied", "path": "Observation.component", "sliceName": "gene-studied", "short": "Gene studied ID", "definition": "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": 0, "max": "*", "mustSupport": false }, { "id": "Observation.component:gene-studied.code", "path": "Observation.component.code", "min": 1, "max": "1", "type": [ { "code": "CodeableConcept" } ], "patternCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "48018-6" } ] }, "mustSupport": false }, { "id": "Observation.component:gene-studied.value[x]", "path": "Observation.component.value[x]", "short": "If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.", "min": 1, "max": "1", "type": [ { "code": "CodeableConcept" } ], "mustSupport": false, "binding": { "strength": "extensible", "description": "HGNC: Human Gene Nomenclature Committee", "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc" }, "mapping": [ { "identity": "v2-cg-results", "map": "A.4" } ] }, { "id": "Observation.component:cytogenetic-location", "path": "Observation.component", "sliceName": "cytogenetic-location", "short": "Cytogenetic (chromosome) location", "min": 0, "max": "*", "mustSupport": false }, { "id": "Observation.component:cytogenetic-location.code", "path": "Observation.component.code", "min": 1, "max": "1", "type": [ { "code": "CodeableConcept" } ], "patternCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "48001-2" } ] }, "mustSupport": false }, { "id": "Observation.component:cytogenetic-location.value[x]", "path": "Observation.component.value[x]", "min": 1, "max": "1", "type": [ { "code": "CodeableConcept" } ], "mustSupport": false, "binding": { "strength": "example", "description": "Binding not yet defined" }, "mapping": [ { "identity": "v2-cg-results", "map": "B.17" } ] }, { "id": "Observation.component:ref-sequence-assembly", "path": "Observation.component", "sliceName": "ref-sequence-assembly", "short": "Human reference sequence assembly version", "min": 0, "max": "*", "mustSupport": false }, { "id": "Observation.component:ref-sequence-assembly.code", "path": "Observation.component.code", "min": 1, "max": "1", "type": [ { "code": "CodeableConcept" } ], "patternCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "62374-4" } ] }, "mustSupport": false }, { "id": "Observation.component:ref-sequence-assembly.value[x]", "path": "Observation.component.value[x]", "min": 1, "max": "1", "type": [ { "code": "CodeableConcept" } ], "mustSupport": false, "binding": { "strength": "extensible", "description": "Human reference sequence NCBI build IDs", "valueSet": "http://loinc.org/vs/LL1040-6" } } ] } }