Connectathon 11 Snapshot

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

Obs-genetics-example3-bcr1 and bcr2 sequencing with FamilyHistory -2

This is the narrative for the resource. See also the XML or JSON format. This example conforms to the profile Observation for Genetics (FHIR Specification Core)).

Generated Narrative with Details

id: ob-genetics-3-2

status: final

code: BRCA2 gene mutation analysis (Details : {LOINC code '38530-2' = 'BCRA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal', given as 'BRCA2 gene mutation analysis'})

subject: Marry Chalmers(MRN: 12345)

effective: 26/05/2015 3:30:10 PM

value: Positive (Details : {SNOMED CT code '10828004' = '10828004', given as 'Positive'})

method: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc (Details : {http://www.ncbi.nlm.nih.gov/gtr/ code 'GTR000521311.1' = '??', given as 'BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc'})

Components

-CodeValue[x]
*Genetic disease sequence variation interpretation (Details : {LOINC code '53037-8' = 'Genetic disease sequence variation interpretation [interpretation] in Blood or Tissue by Molecular genetics method', given as 'Genetic disease sequence variation interpretation'})Pathogenic (Details : {[not stated] code 'LA6668-3' = '??', given as 'Pathogenic'})

 

 

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.