FHIR IG analytics| Package | hl7.fhir.uv.molecular-definition-data-types |
| Resource Type | MolecularDefinition |
| Id | MolecularDefinition-example-variation-tri-allelic-ABCB1.json |
| FHIR Version | R6 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: MolecularDefinition example-variation-tri-allelic-ABCB1
Language: en
Profile: Variation
moleculeType: DNA Sequence
type: DNA Sequence
location
sequenceLocation
sequenceContext: Homo sapiens chromosome 7, GRCh38.p14 Primary Assembly, NC_000007.14
coordinateInterval
CoordinateSystems
System 0-based interval counting start: 87531302
representation
focus: Reference State
Literals
Value A
representation
focus: Alternative State
Literals
Value C
representation
focus: Context State
Literals
Value T
{
"resourceType": "MolecularDefinition",
"id": "example-variation-tri-allelic-ABCB1",
"meta": {
"profile": [
"http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/variation"
]
},
"language": "en",
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"moleculeType": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type",
"code": "dna",
"display": "DNA Sequence"
}
]
},
"type": [
{
"coding": [
{
"system": "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type",
"code": "dna",
"display": "DNA Sequence"
}
]
}
],
"location": [
{
"sequenceLocation": {
"sequenceContext": {
"reference": "MolecularDefinition/example-sequence-nc00000714-url",
"type": "MolecularDefinition",
"display": "Homo sapiens chromosome 7, GRCh38.p14 Primary Assembly, NC_000007.14"
},
"coordinateInterval": {
"coordinateSystem": {
"system": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA30100-4",
"display": "0-based interval counting"
}
]
}
},
"startQuantity": {
"value": 87531302
}
}
}
}
],
"representation": [
{
"focus": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus",
"code": "reference-state",
"display": "Reference State"
}
]
},
"literal": {
"value": "A"
}
},
{
"focus": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus",
"code": "alternative-state",
"display": "Alternative State"
}
]
},
"literal": {
"value": "C"
}
},
{
"focus": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus",
"code": "context-state",
"display": "Context State"
}
]
},
"literal": {
"value": "T"
}
}
]
}