Birth Defects Reporting - STU1
0.1.2 - draft

Birth Defects Reporting - STU1, published by HL7 International / Public Health. This guide is not an authorized publication; it is the continuous build for version 0.1.2 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/fhir-birthdefectsreporting-ig/ and changes regularly. See the Directory of published versions

## Example DiagnosticReport: DiagnosticGeneticTestResultExample

Profile: US Core DiagnosticReport Profile for Laboratory Results Reporting

## Chromosome analysis basic associated observations panel - Blood or Tissue by Cytogenetics (Laboratory)

Subject | Gene Austin Wellington (official) Male, DoB: 2020-04-28 ( Medical record number)
When For | 2024-07-05
Reported | 2024-07-06 11:45:33+0000
Performer | XYZ Clinic

Report Details

Code | Value | Flags | When For
Chromosome analysis result in ISCN expression | 46,XY,del(5)(q13q33) | Final | 2024-07-06 11:45:33+0000
Pathology report final diagnosis Narrative | Deletion of the long arm of chromosome 5. | Final | 2024-07-06 11:45:33+0000

Deletion of the long arm of chromosome 5.