FHIR © HL7.org  |  Server Home  |  XIG Home  |  XIG Stats  |  Server Source  |  FHIR  

FHIR IG Statistics: ValueSet/deep-6-ai-dna-change-type

Packagefhir.deep6.ai
Resource TypeValueSet
Iddeep-6-ai-dna-change-type
FHIR VersionR4
Sourcehttp://deep6.ai/fhir/https://simplifier.net/resolve?scope=fhir.deep6.ai@2.4.0&canonical=http://deep6.ai/fhir/ValueSet/deep-6-ai-dna-change-type
URLhttp://deep6.ai/fhir/ValueSet/deep-6-ai-dna-change-type
Version2.4.0
Statusactive
Date2025-06-06
NameDeep6AIDNAChangeTypeValueSet
TitleDeep 6 AI DNA Change Type Value Set
Realmus
Authorityhl7
DescriptionThis value set extends the Genomic Reporting DNA Change Types with several additional codes relevant to Genomic Reports processed at D6

Resources that use this resource

StructureDefinition
deep-6-ai-variant-2.2.0Deep 6 AI Variant

Resources that this resource uses

CodeSystem
www.sequenceontology.orgSequence Ontology
v3-NullFlavorNullFlavor
ValueSet
dna-change-type-vsDNA Change Type

Narrative

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

Generated Narrative: ValueSet deep-6-ai-dna-change-type

This value set includes codes based on the following rules:

  • Import all the codes that are contained in DNA Change Type
  • Include these codes as defined in http://www.sequenceontology.org
    CodeDisplay
    SO:0000817wild_type
    SO:0001583missense_variant
    SO:0002054loss_of_function_variant
    SO:0001565gene_fusion
  • Include these codes as defined in http://terminology.hl7.org/CodeSystem/v3-NullFlavor
    CodeDisplayDefinition
    UNCun-encoded**Description:** The actual value has not yet been encoded within the approved value domain.

    **Example**: Original text or a local code has been specified but translation or encoding to the approved value set has not yet occurred due to limitations of the sending system. Original text has been captured for a PQ, but not attempt has been made to split the value and unit or to encode the unit in UCUM.

    **Usage Notes**: If it is known that it is not possible to encode the concept, OTH should be used instead. However, use of UNC does not necessarily guarantee the concept will be encodable, only that encoding has not been attempted.

    Data type properties such as original text and translations may be present when this null flavor is included.

Source

{
  "resourceType": "ValueSet",
  "id": "deep-6-ai-dna-change-type",
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "url": "http://deep6.ai/fhir/ValueSet/deep-6-ai-dna-change-type",
  "version": "2.4.0",
  "name": "Deep6AIDNAChangeTypeValueSet",
  "title": "Deep 6 AI DNA Change Type Value Set",
  "status": "active",
  "experimental": true,
  "date": "2025-06-06",
  "publisher": "Deep 6 AI",
  "contact": [
    {
      "name": "Deep 6 AI",
      "telecom": [
        {
          "system": "url",
          "value": "http://deep6.ai/"
        }
      ]
    }
  ],
  "description": "This value set extends the Genomic Reporting DNA Change Types with several additional codes relevant to Genomic Reports processed at D6",
  "compose": {
    "include": [
      {
        "valueSet": [
          "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs"
        ]
      },
      {
        "system": "http://www.sequenceontology.org",
        "concept": [
          {
            "code": "SO:0000817",
            "display": "wild_type"
          },
          {
            "code": "SO:0001583",
            "display": "missense_variant"
          },
          {
            "code": "SO:0002054",
            "display": "loss_of_function_variant"
          },
          {
            "code": "SO:0001565",
            "display": "gene_fusion"
          }
        ]
      },
      {
        "system": "http://terminology.hl7.org/CodeSystem/v3-NullFlavor",
        "concept": [
          {
            "code": "UNC",
            "display": "un-encoded"
          }
        ]
      }
    ]
  }
}