GenomicFinding

Genomic Finding

activeGenomics Reporting3.0.0resourceAbstract4 key elements

Properties common to genetic findings whose results are expressed as computable discrete elements (e.g. genotypes, haplotypes, variants, etc.).

Metadata

hl7.org/fhir
Canonical URL
http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/finding
ID
finding
Type
Base Definition
genomic-base
Derivation
constraint
Mandatory and Must-Support Elements

Elements with cardinality > 0 or marked as Must Support (S)

PathCard.TypeFlagsDescription
component.value[x]
CodeableConcept
1+
The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
component.value[x]
CodeableConcept
1+
Example: 1q21.1
component.value[x]
CodeableConcept
1+
GRCh37 | GRCh38 | ...
component.value[x]
CodeableConcept
1+
Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y