This page is part of the FHIR Specification (v1.2.0: STU 3 Draft). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4 R3 R2
StructureDefinition for Adds additional information to a family member history supporting both the capture of mother/father relationships as well as additional observations necessary to enable genetics-based risk analysis for patients
{ "resourceType": "StructureDefinition", "id": "familymemberhistory-genetic", "text": { "status": "generated", "div": "<div>!-- Snipped for Brevity --></div>" }, "url": "http://hl7.org/fhir/StructureDefinition/familymemberhistory-genetic", "name": "Family member history for genetics analysis", "status": "draft", "publisher": "Health Level Seven International (Clinical Genomics)", "contact": [ { "telecom": [ { "system": "other", "value": "http://www.hl7.org/Special/committees/clingenomics" } ] } ], "date": "2013-10-02", "description": "Adds additional information to a family member history supporting both the capture of mother/father relationships as well as additional observations necessary to enable genetics-based risk analysis for patients", "fhirVersion": "1.2.0", "kind": "resource", "constrainedType": "FamilyMemberHistory", "abstract": false, "base": "http://hl7.org/fhir/StructureDefinition/FamilyMemberHistory", "snapshot": { "element": [ { "path": "FamilyMemberHistory", "name": "FamilyMemberHistory-Genetic", "short": "Information about patient's relatives, relevant for patient", "definition": "Significant health events and conditions for a person related to the patient relevant in the context of care for the patient.", "min": 0, "max": "*", "base": { "path": "FamilyMemberHistory", "min": 0, "max": "*" }, "type": [ { "code": "FamilyMemberHistory" } ], "constraint": [ { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-expression", "valueString": "age[x].empty() or born[x].empty()" } ], "key": "fhs-1", "severity": "error", "human": "Can have age[x] or born[x], but not both", "xpath": "not (*[starts-with(local-name(.), 'age')] and *[starts-with(local-name(.), 'birth')])" } ], "mapping": [ { "identity": "v2", "map": "Not in scope for v2" }, { "identity": "rim", "map": "Observation[classCode=OBS, moodCode=EVN]" }, { "identity": "w5", "map": "clinical.general" } ] }, { "path": "FamilyMemberHistory.id", "short": "Logical id of this artifact", "definition": "The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.", "comments": "The only time that a resource does not have an id is when it is being submitted to the server using a create operation. Bundles always have an id, though it is usually a generated UUID.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.id", "min": 0, "max": "1" }, "type": [ { "code": "id" } ], "isSummary": true }, { "path": "FamilyMemberHistory.meta", "short": "Metadata about the resource", "definition": "The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content may not always be associated with version changes to the resource.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.meta", "min": 0, "max": "1" }, "type": [ { "code": "Meta" } ], "isSummary": true }, { "path": "FamilyMemberHistory.implicitRules", "short": "A set of rules under which this content was created", "definition": "A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content.", "comments": "Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element as much as possible.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.implicitRules", "min": 0, "max": "1" }, "type": [ { "code": "uri" } ], "isModifier": true, "isSummary": true }, { "path": "FamilyMemberHistory.language", "short": "Language of the resource content", "definition": "The base language in which the resource is written.", "comments": "Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute).", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.language", "min": 0, "max": "1" }, "type": [ { "code": "code" } ], "binding": { "strength": "required", "description": "A human language.", "valueSetUri": "http://tools.ietf.org/html/bcp47" } }, { "path": "FamilyMemberHistory.text", "short": "Text summary of the resource, for human interpretation", "definition": "A human-readable narrative that contains a summary of the resource, and may be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it \"clinically safe\" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety.", "comments": "Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative.", "alias": [ "narrative", "html", "xhtml", "display" ], "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.text", "min": 0, "max": "1" }, "type": [ { "code": "Narrative" } ], "condition": [ "dom-1" ], "mapping": [ { "identity": "rim", "map": "Act.text?" } ] }, { "path": "FamilyMemberHistory.contained", "short": "Contained, inline Resources", "definition": "These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope.", "comments": "This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again.", "alias": [ "inline resources", "anonymous resources", "contained resources" ], "min": 0, "max": "*", "base": { "path": "FamilyMemberHistory.contained", "min": 0, "max": "*" }, "type": [ { "code": "Resource" } ], "mapping": [ { "identity": "rim", "map": "N/A" } ] }, { "path": "FamilyMemberHistory.extension", "slicing": { "discriminator": [ "url" ], "ordered": false, "rules": "open" }, "short": "Extension", "definition": "An Extension", "min": 0, "max": "*", "base": { "path": "FamilyMemberHistory.extension", "min": 0, "max": "*" }, "type": [ { "code": "Extension" } ] }, { "path": "FamilyMemberHistory.extension", "name": "Parent", "short": "Extension", "definition": "An Extension", "min": 0, "max": "*", "base": { "path": "FamilyMemberHistory.extension", "min": 0, "max": "*" }, "type": [ { "code": "Extension", "profile": [ "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent" ] } ], "mustSupport": true }, { "path": "FamilyMemberHistory.extension", "name": "Observation", "short": "Extension", "definition": "An Extension", "min": 0, "max": "*", "base": { "path": "FamilyMemberHistory.extension", "min": 0, "max": "*" }, "type": [ { "code": "Extension", "profile": [ "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation" ] } ] }, { "path": "FamilyMemberHistory.modifierExtension", "short": "Extensions that cannot be ignored", "definition": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.", "alias": [ "extensions", "user content" ], "min": 0, "max": "*", "base": { "path": "FamilyMemberHistory.modifierExtension", "min": 0, "max": "*" }, "type": [ { "code": "Extension" } ], "isModifier": true, "mapping": [ { "identity": "rim", "map": "N/A" } ] }, { "path": "FamilyMemberHistory.identifier", "short": "External Id(s) for this record", "definition": "This records identifiers associated with this family member history record that are defined by business processes and/ or used to refer to it when a direct URL reference to the resource itself is not appropriate (e.g. in CDA documents, or in written / printed documentation).", "requirements": "Need to allow connection to a wider workflow.", "min": 0, "max": "*", "base": { "path": "FamilyMemberHistory.identifier", "min": 0, "max": "*" }, "type": [ { "code": "Identifier" } ], "mapping": [ { "identity": "rim", "map": "id" }, { "identity": "w5", "map": "id" } ] }, { "path": "FamilyMemberHistory.patient", "short": "Patient history is about", "definition": "The person who this history concerns.", "alias": [ "Proband" ], "min": 1, "max": "1", "base": { "path": "FamilyMemberHistory.patient", "min": 1, "max": "1" }, "type": [ { "code": "Reference", "profile": [ "http://hl7.org/fhir/StructureDefinition/Patient" ] } ], "isSummary": true, "mapping": [ { "identity": "rim", "map": "participation[typeCode=SBJ].role" }, { "identity": "w5", "map": "who.focus" } ] }, { "path": "FamilyMemberHistory.date", "short": "When history was captured/updated", "definition": "The date (and possibly time) when the family member history was taken.", "comments": "This should be captured even if the same as the date on the List aggregating the full family history.", "requirements": "Allows determination of how current the summary is.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.date", "min": 0, "max": "1" }, "type": [ { "code": "dateTime" } ], "isSummary": true, "mapping": [ { "identity": "rim", "map": "participation[typeCode=AUT].time" }, { "identity": "w5", "map": "when.recorded" } ] }, { "path": "FamilyMemberHistory.status", "short": "partial | completed | entered-in-error | health-unknown", "definition": "A code specifying a state of a Family Member History record.", "min": 1, "max": "1", "base": { "path": "FamilyMemberHistory.status", "min": 1, "max": "1" }, "type": [ { "code": "code" } ], "isModifier": true, "isSummary": true, "binding": { "strength": "required", "description": "A code that identifies the status of the family history record.", "valueSetReference": { "reference": "http://hl7.org/fhir/ValueSet/history-status" } }, "mapping": [ { "identity": "w5", "map": "status" } ] }, { "path": "FamilyMemberHistory.name", "short": "The family member described", "definition": "This will either be a name or a description; e.g. \"Aunt Susan\", \"my cousin with the red hair\".", "requirements": "Allows greater ease in ensuring the same person is being talked about.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.name", "min": 0, "max": "1" }, "type": [ { "code": "string" } ], "isSummary": true, "mapping": [ { "identity": "rim", "map": "name" } ] }, { "path": "FamilyMemberHistory.relationship", "short": "Relationship to the subject", "definition": "The type of relationship this person has to the patient (father, mother, brother etc.).", "min": 1, "max": "1", "base": { "path": "FamilyMemberHistory.relationship", "min": 1, "max": "1" }, "type": [ { "code": "CodeableConcept" } ], "isSummary": true, "binding": { "strength": "example", "description": "The nature of the relationship between the patient and the related person being described in the family member history.", "valueSetReference": { "reference": "http://hl7.org/fhir/ValueSet/v3-FamilyMember" } }, "mapping": [ { "identity": "rim", "map": "code" } ] }, { "path": "FamilyMemberHistory.gender", "short": "male | female | other | unknown", "definition": "Administrative Gender - the gender that the relative is considered to have for administration and record keeping purposes.", "requirements": "Not all relationship codes imply gender and the relative's gender can be relevant for risk assessments.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.gender", "min": 0, "max": "1" }, "type": [ { "code": "code" } ], "isSummary": true, "binding": { "strength": "required", "description": "The gender of a person used for administrative purposes.", "valueSetReference": { "reference": "http://hl7.org/fhir/ValueSet/administrative-gender" } } }, { "path": "FamilyMemberHistory.born[x]", "short": "(approximate) date of birth", "definition": "The actual or approximate date of birth of the relative.", "requirements": "Allows calculation of the relative's age.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.born[x]", "min": 0, "max": "1" }, "type": [ { "code": "Period" }, { "code": "date" }, { "code": "string" } ], "condition": [ "fhs-1" ], "mapping": [ { "identity": "rim", "map": "player[classCode=LIV, determinerCode=INSTANCE]. birthDate (could be URG)" } ] }, { "path": "FamilyMemberHistory.age[x]", "short": "(approximate) age", "definition": "The actual or approximate age of the relative at the time the family member history is recorded.", "requirements": "While age can be calculated from date of birth, sometimes recording age directly is more natureal for clinicians.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.age[x]", "min": 0, "max": "1" }, "type": [ { "code": "Quantity", "profile": [ "http://hl7.org/fhir/StructureDefinition/Age" ] }, { "code": "Range" }, { "code": "string" } ], "condition": [ "fhs-1" ], "mapping": [ { "identity": "rim", "map": "participation[typeCode=SBJ].act[classCode=OBS,moodCode=EVN, code=\"age\"].value" } ] }, { "path": "FamilyMemberHistory.deceased[x]", "short": "Dead? How old/when?", "definition": "Deceased flag or the actual or approximate age of the relative at the time of death for the family member history record.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.deceased[x]", "min": 0, "max": "1" }, "type": [ { "code": "boolean" }, { "code": "Quantity", "profile": [ "http://hl7.org/fhir/StructureDefinition/Age" ] }, { "code": "Range" }, { "code": "date" }, { "code": "string" } ], "mapping": [ { "identity": "rim", "map": "player[classCode=LIV, determinerCode=INSTANCE].deceasedInd, deceasedDate (could be URG) For age, you'd hang an observation off the role" } ] }, { "path": "FamilyMemberHistory.note", "short": "General note about related person", "definition": "This property allows a non condition-specific note to the made about the related person. Ideally, the note would be in the condition property, but this is not always possible.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.note", "min": 0, "max": "1" }, "type": [ { "code": "Annotation" } ], "mapping": [ { "identity": "rim", "map": "inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code=ActCode#ANNGEN].value" } ] }, { "path": "FamilyMemberHistory.condition", "short": "Condition that the related person had", "definition": "The significant Conditions (or condition) that the family member had. This is a repeating section to allow a system to represent more than one condition per resource, though there is nothing stopping multiple resources - one per condition.", "comments": "If none of the conditions listed have an outcome of \"death\" specified, that indicates that none of the specified conditions are known to have been the primary cause of death.", "min": 0, "max": "*", "base": { "path": "FamilyMemberHistory.condition", "min": 0, "max": "*" }, "type": [ { "code": "BackboneElement" } ], "mapping": [ { "identity": "rim", "map": "inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code=ActCode#ASSERTION, value<Diagnosis]" } ] }, { "path": "FamilyMemberHistory.condition.id", "representation": [ "xmlAttr" ], "short": "xml:id (or equivalent in JSON)", "definition": "unique id for the element within a resource (for internal references).", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.condition.id", "min": 0, "max": "1" }, "type": [ { "code": "id" } ], "mapping": [ { "identity": "rim", "map": "n/a" } ] }, { "path": "FamilyMemberHistory.condition.extension", "short": "Additional Content defined by implementations", "definition": "May be used to represent additional information that is not part of the basic definition of the element. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comments": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.", "alias": [ "extensions", "user content" ], "min": 0, "max": "*", "base": { "path": "FamilyMemberHistory.condition.extension", "min": 0, "max": "*" }, "type": [ { "code": "Extension" } ], "mapping": [ { "identity": "rim", "map": "n/a" } ] }, { "path": "FamilyMemberHistory.condition.modifierExtension", "short": "Extensions that cannot be ignored", "definition": "May be used to represent additional information that is not part of the basic definition of the element, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.", "alias": [ "extensions", "user content", "modifiers" ], "min": 0, "max": "*", "base": { "path": "FamilyMemberHistory.condition.modifierExtension", "min": 0, "max": "*" }, "type": [ { "code": "Extension" } ], "isModifier": true, "mapping": [ { "identity": "rim", "map": "N/A" } ] }, { "path": "FamilyMemberHistory.condition.code", "short": "Condition suffered by relation", "definition": "The actual condition specified. Could be a coded condition (like MI or Diabetes) or a less specific string like 'cancer' depending on how much is known about the condition and the capabilities of the creating system.", "min": 1, "max": "1", "base": { "path": "FamilyMemberHistory.condition.code", "min": 1, "max": "1" }, "type": [ { "code": "CodeableConcept" } ], "binding": { "strength": "example", "description": "Identification of the Condition or diagnosis.", "valueSetReference": { "reference": "http://hl7.org/fhir/ValueSet/condition-code" } }, "mapping": [ { "identity": "rim", "map": ".value" } ] }, { "path": "FamilyMemberHistory.condition.outcome", "short": "deceased | permanent disability | etc.", "definition": "Indicates what happened as a result of this condition. If the condition resulted in death, deceased date is captured on the relation.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.condition.outcome", "min": 0, "max": "1" }, "type": [ { "code": "CodeableConcept" } ], "binding": { "strength": "example", "description": "The result of the condition for the patient; e.g. death, permanent disability, temporary disability, etc.", "valueSetReference": { "reference": "http://hl7.org/fhir/ValueSet/condition-outcome" } }, "mapping": [ { "identity": "rim", "map": "outboundRelationship[typeCode=OUTC)].target[classCode=OBS, moodCode=EVN, code=ActCode#ASSERTION].value" } ] }, { "path": "FamilyMemberHistory.condition.onset[x]", "short": "When condition first manifested", "definition": "Either the age of onset, range of approximate age or descriptive string can be recorded. For conditions with multiple occurrences, this describes the first known occurrence.", "requirements": "Age of onset of a condition in relatives is predictive of risk for the patient.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.condition.onset[x]", "min": 0, "max": "1" }, "type": [ { "code": "Quantity", "profile": [ "http://hl7.org/fhir/StructureDefinition/Age" ] }, { "code": "Range" }, { "code": "Period" }, { "code": "string" } ], "mapping": [ { "identity": "rim", "map": "inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code=\"Subject Age at measurement\", value<Diagnosis].value[@xsi:typeCode='TS' or 'IVL_TS'] Use originalText for string" } ] }, { "path": "FamilyMemberHistory.condition.note", "short": "Extra information about condition", "definition": "An area where general notes can be placed about this specific condition.", "min": 0, "max": "1", "base": { "path": "FamilyMemberHistory.condition.note", "min": 0, "max": "1" }, "type": [ { "code": "Annotation" } ], "mapping": [ { "identity": "rim", "map": "inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code=ActCode#ANNGEN].value" } ] } ] }, "differential": { "element": [ { "path": "FamilyMemberHistory", "name": "FamilyMemberHistory-Genetic", "min": 0, "max": "*", "type": [ { "code": "FamilyMemberHistory" } ] }, { "path": "FamilyMemberHistory.extension", "name": "Parent", "min": 0, "max": "*", "type": [ { "code": "Extension", "profile": [ "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent" ] } ], "mustSupport": true }, { "path": "FamilyMemberHistory.extension", "name": "Observation", "min": 0, "max": "*", "type": [ { "code": "Extension", "profile": [ "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation" ] } ] } ] } }