| Package | hl7.fhir.uv.genomics-reporting |
| Resource Type | ConceptMap |
| Id | dna-change-type-map |
| FHIR Version | R4 |
| Source | http://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/ConceptMap-dna-change-type-map.html |
| URL | http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map |
| Version | 4.0.0-ballot |
| Status | draft |
| Date | 2025-06-24T17:31:37+00:00 |
| Name | DNAChangeType |
| Title | DNA Change Type Map |
| Realm | uv |
| Authority | hl7 |
| Description | LOINC and SequenceOntology mappings for dna change type |
| Copyright | This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc. |
No resources found
| CodeSystem | |
| loinc.org | LOINC Code System |
| www.sequenceontology.org | Sequence Ontology |
| ValueSet | |
| dna-change-type-vs | DNA Change Type |
Note: links and images are rebased to the (stated) source
Generated Narrative: ConceptMap dna-change-type-map
Mapping from LOINCAnswerListLL379_9 to DNA Change Type
Group 1 Mapping from Logical Observation Identifiers, Names and Codes (LOINC) to Sequence Ontology
| Source Code | Relationship | Target Code |
| LA9658-1 (Wild type) | is equivalent to | SO:0002073 (no_sequence_alteration) |
| LA6692-3 (Deletion) | is equivalent to | SO:0000159 (deletion) |
| LA6686-5 (Duplication) | is equivalent to | SO:1000035 (duplication) |
| LA6687-3 (Insertion) | is equivalent to | SO:0000667 (insertion) |
| LA6688-1 (Insertion/Deletion) | is equivalent to | SO:1000032 (delins) |
| LA6689-9 (Inversion) | is equivalent to | SO:1000036 (inversion) |
| LA6690-7 (Substitution) | is equivalent to | SO:1000002 (substitution) |
FHIR{
"resourceType": "ConceptMap",
"id": "dna-change-type-map",
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
"valueCode": "cg"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
"valueInteger": 2,
"_valueInteger": {
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
"valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
"valueCode": "trial-use",
"_valueCode": {
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
"valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
}
]
}
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map",
"version": "4.0.0-ballot",
"name": "DNAChangeType",
"title": "DNA Change Type Map",
"status": "draft",
"experimental": false,
"date": "2025-06-24T17:31:37+00:00",
"publisher": "HL7 International / Clinical Genomics",
"contact": [
{
"name": "HL7 International / Clinical Genomics",
"telecom": [
{
"system": "url",
"value": "http://www.hl7.org/Special/committees/clingenomics"
},
{
"system": "email",
"value": "cg@lists.HL7.org"
}
]
}
],
"description": "LOINC and SequenceOntology mappings for dna change type",
"jurisdiction": [
{
"coding": [
{
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code": "001",
"display": "World"
}
]
}
],
"copyright": "This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc.",
"sourceCanonical": "http://loinc.org/vs/LL379-9",
"targetCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs",
"group": [
{
"source": "http://loinc.org",
"target": "http://www.sequenceontology.org",
"element": [
{
"code": "LA9658-1",
"display": "Wild type",
"target": [
{
"code": "SO:0002073",
"display": "no_sequence_alteration",
"equivalence": "equivalent"
}
]
},
{
"code": "LA6692-3",
"display": "Deletion",
"target": [
{
"code": "SO:0000159",
"display": "deletion",
"equivalence": "equivalent"
}
]
},
{
"code": "LA6686-5",
"display": "Duplication",
"target": [
{
"code": "SO:1000035",
"display": "duplication",
"equivalence": "equivalent"
}
]
},
{
"code": "LA6687-3",
"display": "Insertion",
"target": [
{
"code": "SO:0000667",
"display": "insertion",
"equivalence": "equivalent"
}
]
},
{
"code": "LA6688-1",
"display": "Insertion/Deletion",
"target": [
{
"code": "SO:1000032",
"display": "delins",
"equivalence": "equivalent"
}
]
},
{
"code": "LA6689-9",
"display": "Inversion",
"target": [
{
"code": "SO:1000036",
"display": "inversion",
"equivalence": "equivalent"
}
]
},
{
"code": "LA6690-7",
"display": "Substitution",
"target": [
{
"code": "SO:1000002",
"display": "substitution",
"equivalence": "equivalent"
}
]
}
]
}
]
}