ARCHETYPE ID | openEHR-EHR-EVALUATION.family_history.v1 |
Concept | Family History |
Description | Summary information about the problems and/or diagnoses found in genetic relatives. |
Use | Use to record a summary of information about problems or diagnoses found in genetic relatives. This information may be used as the basis for assessment of risk to the individual from potentially inheritable conditions or initiation of preventive health activities. Additional detail about a genetic relative's specific problem or diagnosis can be captured using the EVALUATION.problem_diagnosis archetype and specifying the 'Subject of Care' as the relative. Use this archetype as the basis for a Family Pedigree chart of health problems/diagnoses. It may be necessary to identify each Genetic Relative specifically and not just by the relationship to the patient. For example, while there will be only one maternal grandmother, there may be many female maternal cousins. This will ensure that a pedigree chart is accurate and allow for additional problems/diagnoses to be added, or existing records to be updated, for each identified genetic relative. If the record is private and will not be shared, for reasons of clarity it may be preferable to record the relative's name. If the record is to be shared, the genetic relative should be identified by a unique label or alias. |
Misuse | Not to be used to record family health or social factors which may impart risk to the individual, but are not heritable or genetically based, for example, parental tobacco use. This information will be recorded using other archetypes. Not to be used to record information about the risk of developing a condition due to a family history of a condition - use the EVALUATION.risk family of archetypes. |
Purpose | To record information about the problems or diagnoses (as defined in the Problem/Diagnosis archetype) found in genetic relatives. |
References | HL7 Version 3 Standard: Clinical Genomics; Pedigree, Release 1. ANSI/HL7 V3 CGPED, R1-2007. Published 2007 May 07. |
Copyright | © National E-Health Transition Authority |
Authors | Author name: Sam Heard Organisation: Ocean Informatics Email: sam.heard@oceaninformatics.com Date originally authored: 2010-12-15 |
Other Details Language | Author name: Sam Heard Organisation: Ocean Informatics Email: sam.heard@oceaninformatics.com Date originally authored: 2010-12-15 |
OtherDetails Language Independent | {references=HL7 Version 3 Standard: Clinical Genomics; Pedigree, Release 1. ANSI/HL7 V3 CGPED, R1-2007. Published 2007 May 07., MD5-CAM-1.0.1=0074A03F125EAEFA8BEE39CBAF7EE3A0} |
Keywords | family, history, health, condition, problem, diagnosis, genetic, pedigree |
Lifecycle | AuthorDraft |
Language used | en |
Citeable Identifier | 1051.32.229 |
All | Archetype [runtimeNameConstraintForConceptName=null, archetypeConceptBinding=null, archetypeConceptDescription=Summary information about the problems and/or diagnoses found in genetic relatives., archetypeConceptComment=null, otherContributors=Rita Apelt, Department of Health,NT, Australia John Bennett, NEHTA, Australia Stephen Chu, NEHTA, Australia David Evans, Queensland Health, Australia Tim Garden, NTG Department of Health, Australia Jacquie Garton-Smith, Royal Perth Hospital and DoHWA, Australia Andrew Goodchild, NEHTA, Australia Sam Heard, Ocean Informatics, Australia (Editor) Mary Kelaher, NEHTA, Australia Robert L'egan, NEHTA, Australia Heather Leslie, Ocean Informatics, Australia (Editor) Hugh Leslie, Ocean Informatics, Australia Mike Martyn, The Hobart Anaesthetic Group, Australia Ian McNicoll, Ocean Informatics UK, United Kingdom Chris Mitchell, RACGP, Australia Stewart Morrison, NEHTA, Australia Jeremy Oats, NT Health, Australia Lynne Parsons, Primary and Community Health Services, Australia Jodie Pycroft, Adelaide Northern Division of General Practice Ltd, Australia Robyn Richards, NEHTA - Clinical Terminology, Australia Elizabeth Stanick, Hobart Anaesthetic Group, Australia John Taylor, NEHTA, Australia Gordon Tomes, Australian Institute of Health and Welfare, Australia Richard Townley-O'Neill, NEHTA, Australia Donna Truran, ACCTI-UoW, Australia Jo Wright, NT Dept of Health, Australia (Editor), originalLanguage=en, translators=, subjectOfData=unconstrained, archetypeTranslationTree=null, topLevelToAshis={content=[], description=[], details=[], source=[], capabilities=[], other_participations=[], protocol=[ResourceSimplifiedHierarchyItem [path=/protocol[at0025]/items[at0026], code=at0026, itemType=ELEMENT, level=2, text=Last updated, description=Date that thisFamily History Summary was last updated., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null]], provider=[], activities=[], state=[], events=[], ism_transition=[], data=[ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0002], code=at0002, itemType=ELEMENT, level=2, text=Summary, description=Textual description about the problems, diagnoses, and genetic markers found in genetic relatives. This field may be used to capture unstructured family history information recorded in clinical records., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003], code=at0003, itemType=CLUSTER, level=2, text=Genetic relative, description=Details about a specific genetic relative., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=1..*, cardinalityText= , subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0004], code=at0004, itemType=ELEMENT, level=3, text=Name, description=Name of genetic relative., comment=For privacy reasons this may not be appropriate for sharing or public display and in this situation the 'label' should be used., uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0020], code=at0020, itemType=ELEMENT, level=3, text=Alias, description=An alias or label to uniquely identify a genetic relative, without using a personal name., comment=To be used to assist in distinguishing one individual from multiple genetic relatives with identical relationships. For example, the label to distinguish one specific sister from three known sisters might be 'eldest sister' or 'sister #1'., uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0016], code=at0016, itemType=ELEMENT, level=3, text=Relationship, description=The relationship of the genetic relative to the individual., comment=Coding of the relationship with a terminology is preferred, where possible and including specification of maternal and paternal as required., uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0005], code=at0005, itemType=ELEMENT, level=3, text=Date of Birth, description=Date of birth of the genetic relative., comment=At least a partial date will be useful to calculate an age. For example, current age of relative in a pedigree chart., uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_DATE_TIME, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0023], code=at0023, itemType=ELEMENT, level=3, text=Deceased?, description=Is the genetic relative is deceased?, comment=Record as 'True' if genetic relative is deceased., uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_BOOLEAN, bindings=null, values=Allowed values: {true}, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0011], code=at0011, itemType=ELEMENT, level=3, text=Age at Death, description=Age of the genetic relative at death., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_DURATION, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0008], code=at0008, itemType=CLUSTER, level=3, text=Medical History, description=Detail about problems or diagnoses for the genetic relative., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=1..*, cardinalityText= , subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0008]/items[at0009], code=at0009, itemType=ELEMENT, level=4, text=Problem/Diagnosis, description=Identification of the genetic relative's problem or diagnosis., comment=Coding of the problem or diagnosis with a terminology is preferred, where possible. May link from this data element to a detailed record of a Problem/Diagnosis using the EVALUATION.problem_diagnosis archetype with the Subject of Care set to the genetic relative, not to the patient., uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0008]/items[at0012], code=at0012, itemType=ELEMENT, level=4, text=Clinical Description, description=Narrative description or comments about clinical aspects of the genetic relative's problem/diagnosis., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0008]/items[at0010], code=at0010, itemType=ELEMENT, level=4, text=Age at Onset, description=Estimated or actual age of the genetic relative when the problem/diagnosis was clinically recognised., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_DURATION, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0008]/items[at0014], code=at0014, itemType=ELEMENT, level=4, text=Cause of Death?, description=True if the problem/diagnosis was a direct cause of death in this genetic relative., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_BOOLEAN, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0024], code=at0024, itemType=CLUSTER, level=3, text=Genetic Markers, description=Detailed genetic marker information for the genetic relative., comment=Note: More data elements will be needed in future to record detailed genetic marker information., uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=1..*, cardinalityText= , subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0024]/items[at0022], code=at0022, itemType=ELEMENT, level=4, text=Marker Description, description=Description of risk-related genetic markers identified in this genetic relative., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/data[at0001]/items[at0003]/items[at0024]/items[at0027], code=at0027, itemType=SLOT, level=4, text=Genetic Marker Details, description=Details about the relative's genetic markers., comment=null, uncommonOntologyItems=null, occurencesFormal=0..*, occurencesText=Optional, repeating, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER and ELEMENT, bindings=null, values=Include: All not explicitly excluded archetypes, extendedValues=null]], target=[], identities=[], items=[], relationships=[], credentials=[], context=[], contacts=[]}, topLevelItems={data=ResourceSimplifiedHierarchyItem [path=ROOT_/data[at0001], code=at0001, itemType=ITEM_TREE, level=0, text=null, description=null, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=0..1, cardinalityText=optional, subCardinalityFormal=0..*, subCardinalityText=Minimum of 0 items , dataType=ITEM_TREE, bindings=null, values=null, extendedValues=null], protocol=ResourceSimplifiedHierarchyItem [path=ROOT_/protocol[at0025], code=at0025, itemType=ITEM_TREE, level=0, text=null, description=null, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=0..1, cardinalityText=optional, subCardinalityFormal=0..*, subCardinalityText=Minimum of 0 items , dataType=ITEM_TREE, bindings=null, values=null, extendedValues=null]}, addHierarchyItemsTo=protocol, currentHierarchyItemsForAdding=[ResourceSimplifiedHierarchyItem [path=/protocol[at0025]/items[at0026], code=at0026, itemType=ELEMENT, level=2, text=Last updated, description=Date that thisFamily History Summary was last updated., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null]], minIndents={}, termBindingRetrievalErrorMessage=null] |