FHIR IG Statistics: ValueSet/acmgPathogenicityClassification-vs
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Narrative
Note: links and images are rebased to the (stated) source
- Include these codes as defined in
http://phenopacket-schema.readthedocs.io/en/v2/variant-interpretation.html#acmgpathogenicityclassification
Code | Display |
0 | NOT_PROVIDED |
1 | BENIGN |
2 | LIKELY_BENIGN |
3 | UNCERTAIN_SIGNIFICANCE |
4 | LIKELY_PATHOGENIC |
5 | PATHOGENIC |
Source
{
"resourceType": "ValueSet",
"id": "acmgPathogenicityClassification-vs",
"meta": {
"profile": [
"http://hl7.org/fhir/StructureDefinition/shareablevalueset"
]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
"valueCode": "cic"
}
],
"url": "http://hl7.org/fhir/uv/phenomics-exchange/ValueSet/acmgPathogenicityClassification-vs",
"version": "0.1.0",
"name": "AcmgPathogenicityClassificationVS",
"title": "ACMG Pathogenicity Classification Value Set",
"status": "draft",
"experimental": false,
"date": "2024-06-18T22:11:07+00:00",
"publisher": "HL7 International / Clinical Interoperability Council",
"contact": [
{
"name": "HL7 International / Clinical Interoperability Council",
"telecom": [
{
"system": "url",
"value": "http://www.hl7.org/Special/committees/cic"
},
{
"system": "email",
"value": "cic@lists.HL7.org"
}
]
}
],
"description": "Describes the ACMG five-tier pathogenicity classification system (Richards et al., 2015, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/).",
"jurisdiction": [
{
"coding": [
{
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code": "001",
"display": "World"
}
]
}
],
"copyright": "This value set includes content from Phenopackets, which is copyright © 2016+ Global Alliance for Genomics and Health (GA4GH)",
"compose": {
"include": [
{
"system": "http://phenopacket-schema.readthedocs.io/en/v2/variant-interpretation.html#acmgpathogenicityclassification",
"concept": [
{
"code": "0",
"display": "NOT_PROVIDED"
},
{
"code": "1",
"display": "BENIGN"
},
{
"code": "2",
"display": "LIKELY_BENIGN"
},
{
"code": "3",
"display": "UNCERTAIN_SIGNIFICANCE"
},
{
"code": "4",
"display": "LIKELY_PATHOGENIC"
},
{
"code": "5",
"display": "PATHOGENIC"
}
]
}
]
}
}