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FHIR IG Statistics: ValueSet/GermlineMutationVS

Packagehl7.fhir.uv.ichom-breast-cancer
TypeValueSet
IdGermlineMutationVS
FHIR VersionR4
Sourcehttp://hl7.org/fhir/uv/ichom-breast-cancer/https://build.fhir.org/ig/HL7/fhir-ichom-breast-cancer-ig/ValueSet-GermlineMutationVS.html
URLhttp://hl7.org/fhir/uv/ichom-breast-cancer/ValueSet/GermlineMutationVS
Version1.0.0
Statusactive
Date2023-08-21T16:37:24+00:00
NameGermlineMutationVS
TitleGermline Mutation ValueSet
Realmuv
Authorityhl7
DescriptionValueset of the genetic mutation predisposing breast cancer
CopyrightThis value set includes content from SNOMED CT, which is copyright © 2002+ International Health Terminology Standards Development Organisation (IHTSDO), and distributed by agreement between IHTSDO and HL7. Implementer use of SNOMED CT is not covered by this agreement

Resources that use this resource

StructureDefinition
germline-mutationGermline mutation
germline-mutationGermline mutation

Resources that this resource uses

CodeSystem
sctSNOMED CT (all versions)
v3-NullFlavorNullFlavor
sctSNOMED codes used in this IG
sctveri
v3-NullFlavorNullFlavor

Narrative

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

This value set includes codes based on the following rules:

  • Include these codes as defined in http://snomed.info/sct
    CodeDisplay
    445180002Breast cancer genetic marker of susceptibility not detected (finding)
    412734009BRCA1 gene mutation positive (finding)
    412738007BRCA2 gene mutation detected (finding)
    416237000Procedure not done (situation)
  • Include these codes as defined in http://terminology.hl7.org/CodeSystem/v3-NullFlavor
    CodeDisplayDefinition
    OTHother**Description:**The actual value is not a member of the set of permitted data values in the constrained value domain of a variable. (e.g., concept not provided by required code system).

    **Usage Notes**: This flavor and its specializations are most commonly used with the CD datatype and its flavors. However, it may apply to \*any\* datatype where the constraints of the type are tighter than can be conveyed. For example, a PQ that is for a true measured amount whose units are not supported in UCUM, a need to convey a REAL when the type has been constrained to INT, etc.

    With coded datatypes, this null flavor may only be used if the vocabulary binding has a coding strength of CNE. By definition, all local codes and original text are part of the value set if the coding strength is CWE.

Source

{
  "resourceType": "ValueSet",
  "id": "GermlineMutationVS",
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "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/ichom-breast-cancer/ImplementationGuide/hl7.fhir.uv.ichom-breast-cancer"
          }
        ]
      }
    },
    {
      "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/ichom-breast-cancer/ImplementationGuide/hl7.fhir.uv.ichom-breast-cancer"
          }
        ]
      }
    }
  ],
  "url": "http://hl7.org/fhir/uv/ichom-breast-cancer/ValueSet/GermlineMutationVS",
  "version": "1.0.0",
  "name": "GermlineMutationVS",
  "title": "Germline Mutation ValueSet",
  "status": "active",
  "experimental": false,
  "date": "2023-08-21T16:37:24+00:00",
  "publisher": "HL7 International - Clinical Interoperability Council Group",
  "contact": [
    {
      "name": "HL7 International - Clinical Interoperability Council Group",
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/cic"
        }
      ]
    }
  ],
  "description": "Valueset of the genetic mutation predisposing breast cancer",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code": "001",
          "display": "World"
        }
      ]
    }
  ],
  "copyright": "This value set includes content from SNOMED CT, which is copyright © 2002+ International Health Terminology Standards Development Organisation (IHTSDO), and distributed by agreement between IHTSDO and HL7. Implementer use of SNOMED CT is not covered by this agreement",
  "compose": {
    "include": [
      {
        "system": "http://snomed.info/sct",
        "concept": [
          {
            "code": "445180002",
            "display": "Breast cancer genetic marker of susceptibility not detected (finding)"
          },
          {
            "code": "412734009",
            "display": "BRCA1 gene mutation positive (finding)"
          },
          {
            "code": "412738007",
            "display": "BRCA2 gene mutation detected (finding)"
          },
          {
            "code": "416237000",
            "display": "Procedure not done (situation)"
          }
        ]
      },
      {
        "system": "http://terminology.hl7.org/CodeSystem/v3-NullFlavor",
        "concept": [
          {
            "code": "OTH",
            "display": "other"
          }
        ]
      }
    ]
  }
}