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

Packagehl7.fhir.uv.genomics-reporting
Resource 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
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"
            }
          ]
        }
      ]
    }
  ]
}