This is the initial release of the Molecular Definition Implementation Guide for Molecular Data Types for initial ballot September 2025.
first
true
category
Diagnostics
title
Molecular Definition Implementation Guide for Molecular Data Types
introduction
The Molecular Definition Implementation Guide for Molecular Data Types defines the use of the MolecularDefinition resource to represent genomic data types.
Proposed path for this publication should usually be the canonical with the version or sequence appended and then some kind of label (typically '-snapshot')
Unable to compare with previous version: Unable to find version history at http://hl7.org/fhir/uv/molecular-definition-data-types (Problem #1 with package-list.json at http://hl7.org/fhir/uv/molecular-definition-data-types: Not Found)
IPA Comparison:
n/a
IPS Comparison:
n/a
Validation Flags:
On: autoLoad; Off: hintAboutNonMustSupport, anyExtensionsAllowed, checkAggregation, showReferenceMessages, noExperimentalContent, displayWarnings
This IG is version 6.0.0-ballot3, while the IG 'hl7.fhir.uv.extensions.r5' is from version 5.0.0
warning
The jira specification file appears to be out of date with the versions, artifacts and pages currently defined in the IG. A proposed revised file to be reviewed and, if appropriate, submitted as a pull request against the XML folder in https://github.com/HL7/JIRA-Spec-Artifacts. To see the differences, perform a file compare on 'template/jira-current.xml' (a normalized view of what is in Github) and 'template/jira-new.xml' (reflects current IG content)
The link 'MolecularDefinition-example-variation-cyp2c19-1016-vcf.html' for "Example of Variation of CYP2C19 at Position 1016 as VCF" cannot be resolvedHTML_LINK_CHECK_FAILED
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)CODESYSTEM_THO_CHECK
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)CODESYSTEM_THO_CHECK
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)CODESYSTEM_THO_CHECK
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)CODESYSTEM_THO_CHECK
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)CODESYSTEM_THO_CHECK
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)CODESYSTEM_THO_CHECK
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)CODESYSTEM_THO_CHECK
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)CODESYSTEM_THO_CHECK
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)CODESYSTEM_THO_CHECK
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)CODESYSTEM_THO_CHECK
ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types: ImplementationGuide: Validated against fhir.ImplementationGuide
Path
Severity
Message
ImplementationGuide.dependsOn[1] (l1/c2621)
error
The canonical URL http://hl7.org/fhir/extensions/ImplementationGuide/hl7.fhir.uv.extensions points to the package hl7.fhir.uv.extensions which is inconsistent with the stated packageId of hl7.fhir.uv.extensions.r5IG_DEPENDENCY_CLASH_PACKAGEID
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Constraint failed: eld-31: 'additionalBindings should have a key' (defined in http://hl7.org/fhir/StructureDefinition/ElementDefinition) (Best Practice Recommendation)http://hl7.org/fhir/StructureDefinition/ElementDefinition#eld-31
Suppressing external CodeSystem validation warnings since tx.fhir.org does not yet support these codesystems
A definition for CodeSystem 'http://www.ncbi.nlm.nih.gov/refseq' could not be found, so the code cannot be validated (2 uses)
A definition for CodeSystem 'http://www.pharmvar.org' could not be found, so the code cannot be validated (5 uses)
Suppressing messages about references to Draft CodeSystems that we have defined in this IG (we plan to keep these in the IG for the first release)
Reference to draft CodeSystem http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/encodings|1.0.0-ballot1 (7 uses)
Reference to draft CodeSystem http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus|1.0.0-ballot1 (58 uses)
Reference to draft CodeSystem http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type|1.0.0-ballot1 (53 uses)
Suppressing the warnings about reference to jurisdiction elements (now deprecated) becuase errors in IG Publisher if jurisdiction elements are not present.
Reference to deprecated ValueSet http://hl7.org/fhir/ValueSet/jurisdiction|6.0.0-ballot3 (31 uses)
Suppressing warnings about reference to experimental CodeSystem - the CodeSystem is experimental in R6, perhaps an error to be corrected
Reference to experimental CodeSystem http://hl7.org/fhir/CodeSystem/fhirpath-types|6.0.0-ballot3 (170 uses)
Suppressing warnings about using tooling from version 5.0.0 for a version 6.0.0-ballot3 because version 6.0.0 tooling not available
The ImplementationGuide is based on FHIR version 6.0.0-ballot3 but package hl7.terminology.r5#6.5.0 is based on FHIR version 5.0.0. In general, this version mismatch should be avoided - some tools will try to make this work with variable degrees of success, but others will not even try (1 uses)
This IG is version 6.0.0-ballot3, while the IG 'hl7.fhir.uv.tools.r5' is from version 5.0.0 (1 uses)
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)
Most code systems defined in HL7 IGs will need to move to THO later during the process. Consider giving this code system a THO URL now (See https://confluence.hl7.org/display/TSMG/Terminology+Play+Book, and/or talk to TSMG)
The canonical URL http://hl7.org/fhir/extensions/ImplementationGuide/hl7.fhir.uv.extensions points to the package hl7.fhir.uv.extensions which is inconsistent with the stated packageId of hl7.fhir.uv.extensions.r5