<status value="draft" /> <date value="2019-12-20T18:15:04+00:00" /> <publisher value="Global Alliance for Genomics and Health" /> <contact> <telecom> <system value="other" /> <value value="http://ga4gh.org" /> <rank value="1" /> </telecom> </contact> <description value="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 value="4.0.1" /> <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="Condition" /> <baseDefinition value="http://hl7.org/fhir/StructureDefinition/Condition" /> <derivation value="constraint" /> <snapshot /> <differential> <element id="Condition"> <path value="Condition" /> </element> <element id="Condition.extension"> <path value="Condition.extension" /> <slicing> <discriminator> <type value="value" /> <path value="url" /> </discriminator> <ordered value="false" /> <rules value="open" /> </slicing> </element> <element id="Condition.extension:codedOnset"> <path value="Condition.extension" /> <sliceName value="codedOnset" /> <short value="Describes the onset of the disease." /> <definition value="Describes the onset of the disease using an ontology class." /> <type> <code value="Extension" /> <profile value="http://ga4gh.org/fhir/phenopackets/StructureDefinition/disease-onset" /> </type> <mustSupport value="true" /> </element> <element id="Condition.code"> <path value="Condition.code" /> <mustSupport value="true" /> </element> <element id="Condition.subject"> <path value="Condition.subject" /> <min value="1" /> <type> <code value="Reference" /> <profile value="http://ga4gh.org/fhir/phenopackets/StructureDefinition/Individual" /> </type> <mustSupport value="true" /> </element> <element id="Condition.onset[x]"> <path value="Condition.onset[x]" /> <mustSupport value="true" /> </element> </differential> </StructureDefinition>