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Add some documentation about the FHIR representation
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dconlan committed Dec 13, 2019
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Expand Up @@ -67,3 +67,30 @@ You can easily comply with this license by:
* including prominent notice of the use of Open Pedigree in your software that uses it
* retaining all copyright notices in the software
* ensuring that any and all changes you make to the software are disclosed and open-sourced under the LGPL


# FHIR export/import

The FHIR import/export does not have an actual specification to follow. There is a specification in development, though
we have deviated from it, choosing to use a Composition so that the family history resources and observations can be
bundled together, rather then the List of family history resources in the current specification. Not all data gathered
by the editor has a mapping in the FHIR representation. This means that any data with no mapping will be lost.
Some other aspects of the mapping also do not translate directly, where possible
naming conventions are used to try and account for these. For example the FHIR FamilyHistory resource has a single
name field which is a string. The pedigree editor has a first name, last name and a last name at birth, this will
be written into the FamilyHistory resource as <first name> <last name> (<last name at birth>). When importing the FHIR
resource everything but the last word is the first name and a trailing name in brackets will be taken as last name at birth.

Heredity options - This can be 'Childless' or 'Infertile' in the editor, but is not currently stored on the fhir resource.
Carrier Status - This can be 'Carrier' or 'Pre-symptomatic' in the editor, but is not currently stored on the fhir resource.
Evaluated - This is a checkbox in the editor, but is not currently stored on the fhir resource.
Lost Contact - This is a checkbox in the editor, but is not currently stored on the fhir resource.
Multiple Sibling Nodes - In the editor you can create a single node to represent multiple siblings, at the moment these
will be saved as a single familiy history resource with no name and the number of siblings will be lost.

Phenotype and Candidate Genes are both stored as Observation Resources associated with a family history resource. The
system uses a naming convention to distinguish the two, otherwise it tries to match the code system to try and determine
if the observation represents a Phenotype or Candidate gene.

Life status - This can be 'unborn', 'stillborn' and 'aborted' with an associated gestation age. This will be written into
the deceasedString field on the family history resource in a form like 'stillborn 34 weeks'.

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