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FHIR IG Statistics: ConceptMap/dna-change-type-map

Packagehl7.fhir.uv.genomics-reporting
TypeConceptMap
Iddna-change-type-map
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/ConceptMap-dna-change-type-map.html
URLhttp://hl7.org/fhir/uv/genomics-reporting/ConceptMap/dna-change-type-map
Version4.0.0-ballot
Statusdraft
Date2025-06-24T17:31:37+00:00
NameDNAChangeType
TitleDNA Change Type Map
Realmuv
Authorityhl7
DescriptionLOINC and SequenceOntology mappings for dna change type
CopyrightThis 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.

Resources that use this resource

No resources found


Resources that this resource uses

CodeSystem
loinc.orgLOINC Code System
www.sequenceontology.orgSequence Ontology
loinc.orgLOINC codes used in this IG
www.sequenceontology.orgSequence Ontology
loinc.orgLogical Observation Identifiers, Names and Codes (LOINC)
ValueSet
dna-change-type-vsDNA Change Type

Narrative

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 CodeRelationshipTarget Code
LA9658-1 (Wild type)is equivalent toSO:0002073 (no_sequence_alteration)
LA6692-3 (Deletion)is equivalent toSO:0000159 (deletion)
LA6686-5 (Duplication)is equivalent toSO:1000035 (duplication)
LA6687-3 (Insertion)is equivalent toSO:0000667 (insertion)
LA6688-1 (Insertion/Deletion)is equivalent toSO:1000032 (delins)
LA6689-9 (Inversion)is equivalent toSO:1000036 (inversion)
LA6690-7 (Substitution)is equivalent toSO:1000002 (substitution)

Source

{
  "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"
            }
          ]
        }
      ]
    }
  ]
}