ICHOM Patient Centered Outcomes Measure Set for Breast Cancer
1.0.0 - trial-use International flag

This page is part of the ICHOM FHIR Implementation Guide: Breast Cancer (v1.0.0: STU 1) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

ValueSet: Germline Mutation ValueSet

Official URL: http://hl7.org/fhir/uv/ichom-breast-cancer/ValueSet/GermlineMutationVS Version: 1.0.0
Standards status: Trial-use Maturity Level: 2 Computable Name: GermlineMutationVS

Copyright/Legal: 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

Valueset of the genetic mutation predisposing breast cancer

References

Logical Definition (CLD)

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.

 

Expansion

This value set contains 5 concepts

Expansion based on:

CodeSystemDisplayDefinition
  445180002http://snomed.info/sctBreast cancer genetic marker of susceptibility not detected (finding)
  412734009http://snomed.info/sctBRCA1 gene mutation positive (finding)
  412738007http://snomed.info/sctBRCA2 gene mutation detected (finding)
  416237000http://snomed.info/sctProcedure not done (situation)
  OTHhttp://terminology.hl7.org/CodeSystem/v3-NullFlavorother

**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.

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code