{ "resourceType": "StructureDefinition", "id": "Disease", "meta": { "lastUpdated": "2019-12-20T21:24:43.457+00:00" }, "text": { "status": "generated", "div": "
NameFlagsCard.TypeDescription & Constraints\"doco\"
\".\"\".\"Condition0..*Condition
\".\"\".\"\".\"extension0..*ExtensionSlice: Unordered, Open by value:url
\".\"\".\"\".\"disease-onsetS0..1CodeableConceptDescribes the onset of the disease.
URL: http://ga4gh.org/fhir/phenopackets/StructureDefinition/disease-onset
\".\"\".\"\".\"codeS0..1CodeableConcept
\".\"\".\"\".\"subjectS1..1Reference()
\".\"\".\"\".\"onset[x]S0..1dateTime, Age, Period, Range, string

\"doco\" Documentation for this format
" }, "url": "http://ga4gh.org/fhir/phenopackets/StructureDefinition/Disease", "version": "0.1.0", "name": "Disease", "title": "Disease", "status": "draft", "date": "2019-12-20T18:15:04+00:00", "publisher": "Global Alliance for Genomics and Health", "contact": [ { "telecom": [ { "system": "other", "value": "http://ga4gh.org", "rank": 1 } ] } ], "description": "The word phenotype is used with many different meanings, including 'the observable traits of an organism'. In medicine, the word can be used with at least two different meanings. It is used to refer to some observed deviation from normal morphology, physiology, or behavior. In contrast, the disease is a diagnosis, i.e., and inference or hypothesis about the cause underlying the observed phenotypic abnormalities. Occasionally, physicians use the word phenotype to refer to a disease, but we do not use this meaning here.", "fhirVersion": "4.0.1", "mapping": [ { "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": "Condition", "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Condition", "derivation": "constraint", "snapshot": {}, "differential": { "element": [ { "id": "Condition", "path": "Condition" }, { "id": "Condition.extension", "path": "Condition.extension", "slicing": { "discriminator": [ { "type": "value", "path": "url" } ], "ordered": false, "rules": "open" } }, { "id": "Condition.extension:codedOnset", "path": "Condition.extension", "sliceName": "codedOnset", "short": "Describes the onset of the disease.", "definition": "Describes the onset of the disease using an ontology class.", "type": [ { "code": "Extension", "profile": [ "http://ga4gh.org/fhir/phenopackets/StructureDefinition/disease-onset" ] } ], "mustSupport": true }, { "id": "Condition.code", "path": "Condition.code", "mustSupport": true }, { "id": "Condition.subject", "path": "Condition.subject", "min": 1, "type": [ { "code": "Reference", "profile": [ "http://ga4gh.org/fhir/phenopackets/StructureDefinition/Individual" ] } ], "mustSupport": true }, { "id": "Condition.onset[x]", "path": "Condition.onset[x]", "mustSupport": true } ] } }