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Packagehl7.fhir.uv.cg-incubator
Resource TypeCodeSystem
IdCodeSystem-moleculardefinition-representation-focus.json
FHIR VersionR6
Sourcehttps://build.fhir.org/ig/HL7/cg-incubator/CodeSystem-moleculardefinition-representation-focus.html
URLhttp://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus
Version0.1.0-ci-build
Statusdraft
Date2025-01-30
NameMolecularDefinitionRepresentationFocus
TitleMolecular Definition Representation Focus
Realmuv
Authorityhl7
DescriptionThe domain concept that is the focus of the representation in a MolecularDefinition. This element is used to disambiguate the representations of different alleles or states at a given location.
Contentcomplete

Resources that use this resource

ValueSet
hl7.fhir.uv.cg-incubator#currentmoleculardefinition-representation-focusMolecular Definition Representation Focus VS

Resources that this resource uses

No resources found


Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: CodeSystem moleculardefinition-representation-focus

Last updated: 2025-01-30 00:00:00+0000

Profile: Shareable CodeSystem

This case-sensitive code system http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus defines the following codes:

CodeDisplayDefinition
allele-state Allele StateThe representation defines the state of an allele at a genomic location.
context-state Context StateThe representation defines the state of the genomic sequence context or background for the allele.
reference-state Reference StateThe representation defines the reference state of the sequence at a genomic location.
alternative-state Alternative StateThe representation defines an alternative state of the sequence at a genomic location.

Source1

{
  "resourceType": "CodeSystem",
  "id": "moleculardefinition-representation-focus",
  "meta": {
    "lastUpdated": "2025-01-30T00:00:00Z",
    "profile": [
      "http://hl7.org/fhir/StructureDefinition/shareablecodesystem"
    ]
  },
  "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-standards-status",
      "valueCode": "informative"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger": 1
    }
  ],
  "url": "http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus",
  "identifier": [
    {
      "system": "urn:ietf:rfc:3986",
      "value": "urn:oid:2.16.840.1.113883.4.642.4.2050"
    }
  ],
  "version": "0.1.0-ci-build",
  "name": "MolecularDefinitionRepresentationFocus",
  "title": "Molecular Definition Representation Focus",
  "status": "draft",
  "experimental": true,
  "date": "2025-01-30",
  "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": "clingenomics@lists.hl7.org"
        }
      ]
    }
  ],
  "description": "The domain concept that is the focus of the representation in a MolecularDefinition. This element is used to disambiguate the representations of different alleles or states at a given location.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code": "001",
          "display": "World"
        }
      ]
    }
  ],
  "caseSensitive": true,
  "valueSet": "http://hl7.org/fhir/uv/cg-incubator/ValueSet/moleculardefinition-representation-focus",
  "content": "complete",
  "concept": [
    {
      "code": "allele-state",
      "display": "Allele State",
      "definition": "The representation defines the state of an allele at a genomic location."
    },
    {
      "code": "context-state",
      "display": "Context State",
      "definition": "The representation defines the state of the genomic sequence context or background for the allele."
    },
    {
      "code": "reference-state",
      "display": "Reference State",
      "definition": "The representation defines the reference state of the sequence at a genomic location."
    },
    {
      "code": "alternative-state",
      "display": "Alternative State",
      "definition": "The representation defines an alternative state of the sequence at a genomic location."
    }
  ]
}