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Family History

Reference:2.2.2.18
Definition:Within a CDA document, the following information maps to the HITSP/C154 Data Dictionary. See the HL7 Continuity of Care Document Section 3.6 for constraints applicable to these data elements. The text for the HL7 CDA Release 2 - Continuity of Care Document (CCD), Section 3.6 Family History, p.33 begins here: This section contains data defining the patient's genetic relatives in terms of possible or relevant health risk factors that have a potential impact on the patient's healthcare risk profile. The text for the HL7 CDA Release 2 - Continuity of Care Document (CCD), Section 3.6 Family History, p.33 ends here. While blood relatives are the focus of family history, this specification recognizes that it is necessary also to communicate information about spouses, partners, and adopted or foster children, in order to clarify the consanguinity of relationships between family members. For family histories recorded in a clinical document the individual who is the focus of the family history is the patient, and represents the index case for the family history. The current concept can be stated as follows: Quoted Material from MedicineNet.com - MedTerms Dictionary starts here: Family: 1. A group of individuals related by blood or marriage or by a feeling of closeness. Family history: The family structure and relationships within the family, including information about diseases in family members. Quoted Material from MedicineNet.com - MedTerms Dictionary ends here.
OID:2.16.840.1.113883.3.88.11.83.18.1
CDA Data Location HITSP Data Element Identifier and Name O/R Additional Specification
cda:section[cda:templateId/@root = '2.16.840.1.113883.10.20.1.23'] Family History Section See Note26
cda:entry/cda:observationMedia 18.01 - Pedigree O/N 2.2.2.18.2
cda:entry/cda:organizer[ cda:templateId/@root = '2.16.840.1.113883.3.88.11.83.18'] 18.02 - Family Member Information R/Y
cda:subject/cda:relatedSubject 18.03 - Family Member Demographics R/N
cda:code/@code 18.04 - Family Member Relationship (to Patient) R2/N 2.2.2.18.3
cda:code/cda:originalText 18.05 - Family Member Relationship Free Text O/N
cda:subject Family Member Person Information R/N
sdtc:id 18.06 - Family Member Identifier R/Y
cda:name 18.07 - Family Member Name R2/Y
cda:birthTime 18.08 - Family Member Date of Birth R2/N
cda:administrativeGenderCode/ @code 18.24 Family Member Administrative Gender O/N
sdtc:raceCode/@code 18.09 - Family Member Race R2/Y
sdtc:ethnicGroupCode/@code 18.10 - Family Member Ethnicity R2/N
cda:participant/cda:participantRole/ cda:playingEntity/sdtc:id 18.04 - Family Member Relationship (to other Family Member) R2/Y
cda:component 18.11 - Family Member Medical History R2/Y
cda:observation[cda:templateId/@root = '1.3.6.1.4.1.19376.1.5.3.1.4.13.3'] 18.12 - Family Member Condition R2/N
cda:entryRelationship/cda:observation [cda:templateId/@root = '2.16.840.1.113883.10.20.1.38'] 18.13 - Family Member Age (at Onset) R2/N
cda:entryRelationship[ @typeCode='CAUS'] cda:observation 18.14 - Family Member Cause of Death R2/N
cda:entryRelationship/ cda:observation [cda:templateId/@root = '2.16.840.1.113883.10.20.1.38'] 18.15 - Family Member Age (at Death) R2/N
cda:entryRelationship/cda:observation [cda:templateId/@root = '2.16.840.1.113883.10.20.1.50']/ value/@code 18.25 - Family Member Problem Status O/N
cda:observation[cda:templateId/@root = ' 1.3.6.1.4.1.19376.1.5.3.1.4.13.3'] 18.16 - Family Member Biological Sex O/N
cda:observation[cda:templateId/@root = ' 1.3.6.1.4.1.19376.1.5.3.1.4.13.3'] 18.17 - Family Member Multiple Birth Status - OR - O/N
cda:observation[cda:templateId/@root = ' 1.3.6.1.4.1.19376.1.5.3.1.4.13.3'] 1.13 Multiple Birth Indicator O/N
cda: observation[cda:templateId/@root = ' 1.3.6.1.4.1.19376.1.5.3.1.4.13.3'] 18.26 - Family Member Multiple Birth Order - OR - O/N
cda: observation[cda:templateId/@root = ' 1.3.6.1.4.1.19376.1.5.3.1.4.13.3'] 1.14 - Birth Order O/N
cda:observation [cda:templateId/@root = '2.16.840.1.113883.10.20.1.38'] 18.23 - Family Member Age - OR - R2/N
cda:observation [cda:templateId/@root = '2.16.840.1.113883.10.20.1.38'] 1.15 - Age R2/N
cda:observation[cda:templateId/@root = ' 1.3.6.1.4.1.19376.1.5.3.1.4.13.3'] 18.18 - Family Member Genetic Test Information R2/Y
cda:code/@code 18.19 - Family Member Genetic Test Code R2/N
cda:code/cda:originalText 18.20 - Family Member Genetic Test Name R/N
cda:value 18.21 - Family Member Genetic Test Result R2/N
cda:effectiveTime 18.22 - Family Member Genetic Test Date R2/N

Optionality Legend: “R” for Required, “R2” for Required if known, “O” for Optional and Repeat = “Y” for Yes or “N” for No


Section ID Constraint ID Definition
2.2.2.18.1 Family History Constraints Not Provided
C83-[DE-18-CDA-1] A CDA Document SHALL declare conformance for the Family History module by including a <templateID> element with the root attribute set to the value 2.16.840.1.113883.3.88.11.83.18
C83-[DE-18-CDA-2] Family History data elements SHALL declare conformance to the IHE Family History Organizer entry by including a <templateID> element with the root attribute set to the value 1.3.6.1.4.1.19376.1.5.3.1.4.15

Family History Constraints Example:

<section>
<templateId root=''2.16.840.1.113883.10.20.1.23'/>
...
<entry>
<organizer classCode='CLUSTER' moodCode='EVN'>
<templateId root='2.16.840.1.113883.3.88.11.83.18'/>
<templateId root='1.3.6.1.4.1.19376.1.5.3.1.4.15'/>
<subject typeCode='SUBJ'>
<relatedSubject classCode='PRS'>
<code code='' displayName=''
codeSystem='2.16.840.1.113883.5.111' codeSystemName='RoleCode'/>
<subject>
<sdtc:id root='' extension=''/>
<administrativeGenderCode code='' displayName=''
codeSystem='' codeSystemName=''/>
</subject>
</relatedSubject>
</subject>
<!-- zero or more participants linking to other relations -->
<participant typeCode='PART'>
<participantRole classCode='PRS'>
<code code='' displayName=''
codeSystem='2.16.840.1.113883.5.111' codeSystemName='RoleCode'/>
<playingEntity classCode='PSN'>
<sdtc:id root='' extension=''/>
</playingEntity>
</participantRole>
</participant>
<!-- one or more entry relationships for family history observations -->
<entryRelationship typeCode='COMP'>
<observation classCode='OBS' moodCode='EVN'>
<templateId root='2.16.840.1.113883.10.20.1.22'/>
</observation>
< /entryRelationship>
</organizer>
</entry>
</section>
2.2.2.18.2 Pedigree The pedigree graph may be included within the Family History section. This is a graphic image that would appear in the document to represents the pedigree of the patient, and can highlight key family history information. The example given below shows how a Family History section can include a pedigree graph.
C83-[DE-18.01-CDA-1] A pedigree image MAY be included in an observationMedia element in an entry under the Family History section
C83-[DE-18.01-CDA-2] The mediaType of the observationMedia element SHALL be application/pdf, image/jpeg or image/png
C83-[DE-18.01-CDA-3] The representation of the observationMedia element SHALL be B64, and the data for the image SHALL be included within the value element

Pedigree Example:

<section>
<templateId root='1.3.6.1.4.1.19376.1.5.3.1.3.15'/>
<templateId root='1.3.6.1.4.1.19376.1.5.3.1.3.14'/>
<templateId root='2.16.840.1.113883.10.20.1.4'/>
<code code="10157-6" displayName="HISTORY OF FAMILY MEMBER DISEASES" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC"/>
<title>Family History</title>
<text><renderMultiMedia referencedObject="MM1"/></text>
<entry>
<observationMedia classCode="OBS" moodCode="EVN" ID="MM1">
<id root="2.16.840.1.113883.19.2.1"/>
<value xsi:type="ED" mediaType="image/jpeg" representation="B64">
Based 64 encoded data for the image
</value>
</observationMedia>
</entry>
:
.
</section>
2.2.2.18.3 Family Member Relationship (to Patient) The family member relationship to the patient is recorded by expressing that relationship in the code element.
C154-[DE-18.04-1] The Family Member Relationship (to Patient) SHALL be coded as specified in HITSP/C80 Section 2.2.1.2.5 Family Relationship Type
2.2.2.18.4 Family Member Identifier Each family member in a family history must be identified to allow for reconciliation of updated family histories when exchanged between providers.
C83-[DE-18.06-CDA-1] An sdtc:id element SHALL be present on family members
2.2.2.18.5 Family Member Name The family member name need not be the actual name of the family member. It may be a string (such as aunt1 or aunt2) to help the patient and providers distinguish between different family members with the same relationship to the patient.
2.2.2.18.6 Family Member Administrative Gender Constraints Not Provided
C154-[DE-18.24-1] Gender SHALL be coded as specified in HITSP/C80 Section 2.2.1.2.1.2 V3 Administrative Gender
2.2.2.18.7 Family Member Race The race of the family member should be included to help in the assessment of risk for genetic disease. This information is recorded using an extension to the HL7 CDA specification.
C154-[DE-18.09-1] Race SHALL be coded as specified in HITSP/C80 Section 2.2.1.2.7 Race
C83-[DE-18.09-CDA-1] The race of the family member, when recorded, SHALL appear in an sdtc:race element
2.2.2.18.8 Family Member Ethnicity The ethnicity of the family member should be included to help in the assessment of risk for genetic disease. This information is recorded using an extension to the HL7 CDA specification.
C154-[DE-18.10-1] Ethnicity SHALL be coded as specified in HITSP/C80 Section 2.2.1.2.2 Ethnicity
C83-[DE-18.10-CDA-1] The ethnicity of the family member, when recorded, SHALL appear in an sdtc:ethnicGroupCode element
2.2.2.18.9 Family Member Relationship (to other Family Member) Not Provided
2.2.2.18.10 Family Member Condition Family member conditions are recorded using the IHE Family History Observation, and otherwise have the same constraints on the subfields as are found in the Condition Module described earlier with respect to vocabulary.
C154-[DE-18.12-1] The data element 7.02 Problem Type SHALL be coded as specified in HITSP/C80 Section 2.2.3.1.2 Problem Type.
C154-[DE-18.12-2] The problem SHALL be coded as specified in HITSP/C80 Section 2.2.3.1.1 Problem
C83-[DE-18.12-CDA-1] Family History Condition data elements SHALL declare conformance to the IHE Family History Observation entry by including a <templateID> element with the root attribute set to the value 1.3.6.1.4.1.19376.1.5.3.1.4.13.3
2.2.2.18.11 Family Member Age at Onset or at Death The age of onset of disease or age at death of a family member should be computable from the family member date of birth and the effective time of the observation of the disease or the death. When that data are not available, the age of the patient at the time of the observation shall be recorded within a condition or test result observation using the Age Observation described in CCD 3.6.2.4.
C83-[DE-18.13-CDA-1] Family History Condition data elements SHALL declare conformance to the IHE Family History Observation entry by including a <templateID> element with the root attribute set to the value 1.3.6.1.4.1.19376.1.5.3.1.4.13.3

Family Member Age at Onset or at Death Example:

<entryRelationship typeCode='SUBJ' inversionInd='true'>
<observation classCode='OBS' moodCode='EVN'>
<templateId root='2.16.840.1.113883.10.20.1.38'/>
<code code='397659008' displayName='age' codeSystem='2.16.840.1.113883.6.96' codeSystemName='SNOMED CT'/>
<value value='55' unit='a' xsi:type='PQ'/>
</observation>
</entryRelationship>
2.2.2.18.12 Family Member Cause of Death When a condition is one of the causes of death for the patient, that fact is related using the Cause of Death Observation described in CCD 3.6.2.1.1.

Family Member Cause of Death Example:

<entryRelationship typeCode='CAUS'>
<observation classCode='OBS' moodCode='EVN'>
<templateId root='2.16.840.1.113883.10.20.1.42'/>
<code code='419620001' displayName='death' codeSystem='2.16.840.1.113883.6.96' codeSystemName='SNOMED CT'/>
<effectiveTime value='20090510063913'/>
</observation>
</entryRelationship>
2.2.2.18.13 Family Member Biological Sex The biological sex may be recorded as a Family History observation to identify the biological sex of the subject where it differs from the administrative gender.
2.2.2.18.14 Family Member Multiple Birth Status Multiple birth status is may be recorded as a Family History observation on the subject when it is relevant for a family member (18.17 Family Member Multiple Birth Status) or the patient (1.13 Multiple Birth Indicator).
C154-[DE-18.18-1] Components of a Genetic Laboratory Test SHALL be coded as specified in HITSP/C80 Section 2.2.3.11 Genetic Testing
2.2.2.18.15 Family Member Multiple Birth Order Multiple birth order is may be recorded as a Family History observation on the subject when it is relevant for a family member (18.26 - Family Member Multiple Birth Order) or the patient (1.14 - Birth Order). Family Member Age. The age may be recorded as a Family History observation on the subject when it is relevant for a family member (18.23 - Family Member Age) or the patient (1.14 - Age).
2.2.2.18.16 Family Member Genetic Test Information Genetic test results may be recorded as Family History observations on the subject.
2.2.2.18.17 Family Member Problem Status The problem status records whether the indicated problem is active, inactive, or resolved for the family member.
C154-[DE-18.23-1] The problem SHALL be coded as specified in HITSP/C80 Section 2.2.3.1.1 Problem Status
C83-[DE-18.25-CDA-1] A problem status observation SHALL conform to the CCD Templates 2.16.840.1.113883.10.20.1.50 and 2.16.840.1.113883.10.20.1.57.
C83-[DE-18.25-CDA-2] A problem status observation SHALL conform to the IHE Template 1.3.6.1.4.1.19376.1.5.3.1.4.1.1 for problem status.

Family Member Problem Status Example:

<entryRelationship typeCode='REFR'>
<observation classCode='OBS' moodCode='EVN'>
<templateId root='2.16.840.1.113883.10.20.1.50'/>
<templateId root='2.16.840.1.113883.10.20.1.57'/>
<templateId root='1.3.6.1.4.1.19376.1.5.3.1.4.1.1'/>
<code code='33999-4' displayName='Status' codeSystem='2.16.840.1.113883.6.1' codeSystemName='LOINC'/>
<statusCode code='completed'/> <value xsi:type='CD' code='55561003' displayName='Active' codeSystem='2.16.840.1.113883.6.96' codeSystemName='SNOMED CT'/>
<text><reference value='#cstatus-2'/></text>
</observation>
</entryRelationship>
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