Specification of Family History HL7 XML File

The data to be inserted into this XML structure is in colored bold
italics. The significance of the colors is as follows:

***Red*** -- data that is represented by a code authorized by HL7; the
text represents the name of the accompanying file that contains the HL7
authorized codes for the indicated field

***Green*** -- data that is not related to a coding system and is not
constrained to specific values e.g. age, ID

***Blue*** -- data that is constrained to a specific set of values from
an authorized HL7 dataset system e.g. ICD-9

***Orange*** -- the name of the authorized code set e.g. ICD-9

> ***Purple*** -- free text description or label of meaning or origin of
> the code from the authorized code set

# DARK BLUE CAPITALS BOLD -- a specific HL7 code that must always occur at this position

NB: All input data must be surrounded by quotes.

\<FamilyHistory\>

\<classCode = "***OBS***"/\>

\<moodCode = "***EVN***"/\>

\< code code=\"***history of family disease***\"
displayName=\"***display text***\" codeSystemName=\"*systemName*\" /\>

\<Subject\>

> **For the patient**:
>
> \<Patient \>
>
> \<classCode = "***PAT***"/\>
>
> \<id extension="***identifier for patient***"/\>
>
> \<patientPerson\>
>
> \<classCode = "***PSN***"/\>
>
> \<determinerCode = "INSTANCE"/\>
>
> \<name formatted="name"/\>
>
> \<administrativeGenderCode code = **"*gender code"*** /\>
>
> \<ethnicGroupCode code="***race code"/**\>*
>
> \<deceasedInd value= ***"deceased code"/***\>
>
> \<birthTime value = "***date(yyyymmdd)***"/\>
>
> \<deceasedTime value = "***date(yyyymmdd)***"/\>
>
> \<relative\>
>
> \<classCode = "***PRS***"/\>
>
> \<code code="*SUBJ*"/\>
>
> \<relationshipHolder\>
>
> \<classCode = "***PSN***"/\>
>
> \<determinerCode = "INSTANCE"/\>
>
> \<id extension = "***id of subject"***/\>
>
> \</relationshipHolder\>
>
> **\</**relative\>

**Specify bloodline**

> \<relative\>
>
> \<classCode = "***PRS***"/\>
>
> \<code code="*NMTH*"/\>
>
> \<relationshipHolder\>
>
> \<classCode = "***PSN***"/\>
>
> \<determinerCode = "INSTANCE"/\>
>
> \<id extension = "***id of mother"***/\>
>
> \</relationshipHolder\>
>
> **\</**relative\>
>
> \<relative\>
>
> \<classCode = "***PRS***"/\>
>
> \<code code="*NFTH*"/\>
>
> \<relationshipHolder\>
>
> \<classCode = "***PSN***"/\>
>
> \<determinerCode = "INSTANCE"/\>
>
> \<id extension = "***id of father"***/\>
>
> \</relationshipHolder\>
>
> **\</**relative\>
>
> \</patientPerson\>
>
> **Specify age**
>
> \<subjectOf1\>
>
> \<livingEstimatedAge\> or \<deceasedEstimatedAge\>
>
> \<classCode = "***OBS***"/\>
>
> \< moodCode = "***EVN***"/\>
>
> \<code code=\"***age/deceased code***\"
> codeSystemName=\"*systemName*\" /\>
>
> \<value\>
>
> \<low value="***low value***" /\>
>
> \<high value = "***high value***" /\>
>
> \</value\>
>
> \</livingEstimatedAge\> or \</deceasedEstimatedAge\>
>
> \</subjectOf1\>
>
> \<subjectOf2\>
>
> **For each patient diagnosis:**
>
> \<clinicalObservation\>
>
> \<classCode = "***OBS***"/\>
>
> \< moodCode = "***EVN***"/\>
>
> \<code codeSystemName="***System Name*"** code=**"*diagnostic code"***
> displayName=***diagnostic display***" originalText=" ***original
> text"***/*\>*
>
> \<subjectof\>
>
> \<dataEstimatedAge\>
>
> \<classCode = "***OBS***"/\>
>
> \<moodCode = "***EVN***"/\>
>
> \<code codeSystemName="***System Name*"** code=**"*age code"***/*\>*
>
> \<value\>
>
> \<low value="***low value***"/\>
>
> \<high value = "***high value***"/\>
>
> \</value\>
>
> \</dataEstimatedAge\>
>
> \</subjectof\>
>
> \</clinicalObservation\>
>
> \</subjectOf2\>

\<subjectOf2\>

> **For each genetic test result for the patient:**
>
> \<genotypeLocus moodCode="***EVN***"\>
>
> \<component1\>
>
> \<individualAllele moodCode="***EVN***"\>
>
> \<value codeSystemName= ***"System Name"*** code="***gene name
> code"*** displayName="***diagnostic display***" originalText =
> ***"original text"***/\>

\<component1\>

\<sequenceVariation moodCode="***EVN***"\>

\<value code="code"/\>

> \<interpretationCode = ***"interpretation code"***\>
>
> \<pertinentInformation typeCode="code"/\>
>
> \<clinicalPhenotype classCode="code"/\>
>
> \<component2\>
>
> \<knownClinicalPhenotype\>
>
> \<value codeSystemName= ***"System Name"*** code="***gene name
> code"*** displayName="***diagnostic display***"/\>
>
> \</ knownClinicalPhenotype\>
>
> \</component2\>
>
> \</ pertinentInformation\>
>
> \</sequenceVariation\>
>
> \</component1\>
>
> \</individualAllele\>
>
> \</component1\>
>
> \</genotypeLocus\>
>
> \</subjectOf2\>
>
> **Clinical data for relatives (relationships expressed with respect to
> patient)**
>
> \<patientPerson\>
>
> **For each relative:**
>
> \<relative\>
>
> \<classCode = "***PRS***"/\>
>
> \<code code="***relation code"***/\>
>
> \<id extension =" ***id value**"***/\>**

## 

> \<relationshipHolder\>
>
> **Same as \<patientPerson\> data**
>
> \</relationshipHolder\>

##  Specify age

> **Same as for patient**
>
> **For each diagnosis:**
>
> **Same as for patient**
>
> **For each genetic test result:**
>
> **Same as for patient**
>
> \</relative\>
>
> \</patientPerson\>
>
> \</Patient\>

\</Subject\>

\<Informant\>

\<name formatted="name"/\>

\</Informant\>

**Pedigree Analysis Results**

\<risk\>

\<PedigreeAnalysisResults\>

> \<classCode = "***OBS***"/\>
>
> \< moodCode = "***RSK***"/\>

\<id extension = "***id of results"***/\>

\<text\> ***Text*** \</text\>

> \<effectiveTime value = "***date(yyyymmdd)***"/\>
>
> \<methodCode="***method"/\>***

\<inputParameters\>

> \<classCode = "***OBS***"/\>
>
> \< moodCode = "***RSK***"/\>
>
> \<code code="***parameter code"***/\>

\<text text=" ***text "***/\>

> \<value\>
>
> \<value value="***value***" /\>
>
> \</value\>

\</inputParameters\>

\<component\>

\<AnalysisResult\> or \<Probability\> or \<Age\> or \<PercentageRisk\>
or \<RelativeRisk\>

> \<classCode = "***OBS***"/\>
>
> \< moodCode = "***RSK***"/\>
>
> \<code code="***result code"***/\>
>
> \<value\>
>
> \<value value="***value***" /\>
>
> \</value\>

\</AnalysisResult\> or \</Probability\> or \</Age\> or
\</PercentageRisk\> or \</RelativeRisk\>

\</component\>

\</PedigreeAnalysisResults\>

\</risk\>

**Problem in the family not attributable to a specific family member**

\<Component\>

**Same as clinical observation for patient**

\</Component

\</FamilyHistory\>