| Package | hl7.fhir.uv.phenomics-exchange |
| Resource Type | StructureDefinition |
| Id | acmg-pathogenicity-classification |
| FHIR Version | R4 |
| Source | http://hl7.org/fhir/uv/phenomics-exchange/https://build.fhir.org/ig/HL7/phenomics-exchange-ig/StructureDefinition-acmg-pathogenicity-classification.html |
| URL | http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/acmg-pathogenicity-classification |
| Version | 0.1.0 |
| Status | draft |
| Date | 2024-06-18T22:11:07+00:00 |
| Name | AcmgPathogenicityClassification |
| Title | ACMG Pathogenicity Classification |
| Realm | uv |
| Authority | hl7 |
| Description | One of the five ACMG pathogenicity categories, default is UNCERTAIN_SIGNIFICANCE. |
| Copyright | [Global Alliance for Genomics and Health](https://www.ga4gh.org) |
| Type | Extension |
| Kind | complex-type |
No resources found
| ValueSet | |
| acmgPathogenicityClassification-vs | ACMG Pathogenicity Classification Value Set |
No extension usage examples found
Note: links and images are rebased to the (stated) source
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
  Extension | 0..* | Extension | ACMG Pathogenicity Classification | |
  extension | 0..0 | |||
| url | 1..1 | uri | "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/acmg-pathogenicity-classification" | |
  value[x] | 1..1 | CodeableConcept | Value of extension Binding: ACMG Pathogenicity Classification Value Set (required) | |
| Documentation for this format | ||||
FHIR{
"resourceType": "StructureDefinition",
"id": "acmg-pathogenicity-classification",
"text": {
"status": "extensions",
"div": "<!-- snip (see above) -->"
},
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
"valueCode": "cic"
}
],
"url": "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/acmg-pathogenicity-classification",
"version": "0.1.0",
"name": "AcmgPathogenicityClassification",
"title": "ACMG Pathogenicity Classification",
"status": "draft",
"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": "One of the five ACMG pathogenicity categories, default is UNCERTAIN_SIGNIFICANCE.",
"jurisdiction": [
{
"coding": [
{
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code": "001",
"display": "World"
}
]
}
],
"copyright": "[Global Alliance for Genomics and Health](https://www.ga4gh.org)",
"fhirVersion": "4.0.1",
"mapping": [
{
"identity": "rim",
"uri": "http://hl7.org/v3",
"name": "RIM Mapping"
}
],
"kind": "complex-type",
"abstract": false,
"context": [
{
"type": "element",
"expression": "Element"
}
],
"type": "Extension",
"baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension",
"derivation": "constraint",
"snapshot": {
"element": [
{
"id": "Extension",
"path": "Extension",
"short": "ACMG Pathogenicity Classification",
"definition": "One of the five ACMG pathogenicity categories, default is UNCERTAIN_SIGNIFICANCE.",
"min": 0,
"max": "*",
"base": {
"path": "Extension",
"min": 0,
"max": "*"
},
"condition": [
"ele-1"
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false
},
{
"id": "Extension.id",
"path": "Extension.id",
"representation": [
"xmlAttr"
],
"short": "Unique id for inter-element referencing",
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min": 0,
"max": "1",
"base": {
"path": "Element.id",
"min": 0,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "string"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "Extension.extension",
"path": "Extension.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Extension",
"definition": "An Extension",
"min": 0,
"max": "0",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false
},
{
"id": "Extension.url",
"path": "Extension.url",
"representation": [
"xmlAttr"
],
"short": "identifies the meaning of the extension",
"definition": "Source of the definition for the extension code - a logical name or a URL.",
"comment": "The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.",
"min": 1,
"max": "1",
"base": {
"path": "Extension.url",
"min": 1,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "uri"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"fixedUri": "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/acmg-pathogenicity-classification",
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.value[x]",
"path": "Extension.value[x]",
"short": "Value of extension",
"definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R4/extensibility.html) for a list).",
"min": 1,
"max": "1",
"base": {
"path": "Extension.value[x]",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier": false,
"isSummary": false,
"binding": {
"strength": "required",
"valueSet": "http://hl7.org/fhir/uv/phenomics-exchange/ValueSet/acmgPathogenicityClassification-vs"
},
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
}
]
},
"differential": {
"element": [
{
"id": "Extension",
"path": "Extension",
"short": "ACMG Pathogenicity Classification",
"definition": "One of the five ACMG pathogenicity categories, default is UNCERTAIN_SIGNIFICANCE."
},
{
"id": "Extension.extension",
"path": "Extension.extension",
"max": "0"
},
{
"id": "Extension.url",
"path": "Extension.url",
"fixedUri": "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/acmg-pathogenicity-classification"
},
{
"id": "Extension.value[x]",
"path": "Extension.value[x]",
"min": 1,
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "required",
"valueSet": "http://hl7.org/fhir/uv/phenomics-exchange/ValueSet/acmgPathogenicityClassification-vs"
}
}
]
}
}