Extension-family-member-history-genetics-observation.json

Genetic markers, ethnicity, etc.

{
  "resourceType": "StructureDefinition",
  "id": "family-member-history-genetics-observation",
  "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation",
  "name": "Genetic markers, ethnicity, etc.",
  "status": "draft",
  "publisher": "Health Level Seven International (Clinical Genomics)",
  "contact": [
    {
      "telecom": [
        {
          "system": "other",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        }
      ]
    }
  ],
  "date": "2013-10-02",
  "description": "Allows capturing risk-relevant observations about the relative that aren't themselves a specific health condition; e.g. Certain ethnic ancestries that are disease-relevant, presence of particular genetic markers, etc.",
  "fhirVersion": "1.6.0",
  "mapping": [
    {
      "identity": "rim",
      "uri": "http://hl7.org/v3",
      "name": "RIM Mapping"
    }
  ],
  "kind": "complex-type",
  "abstract": false,
  "contextType": "resource",
  "context": [
    "FamilyMemberHistory"
  ],
  "type": "Extension",
  "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension",
  "derivation": "constraint",
  "snapshot": {
    "element": [
      {
        "id": "Extension:geneticmarkers,ethnicity,etc",
        "path": "Extension",
        "short": "Genetic markers, ethnicity, etc.",
        "definition": "Allows capturing risk-relevant observations about the relative that aren't themselves a specific health condition; e.g. Certain ethnic ancestries that are disease-relevant, presence of particular genetic markers, etc.",
        "comments": "This may be extended with additional genomics-specific resources when they are ready.",
        "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": "children().count() > id.count()",
            "xpath": "@value|f:*|h:div"
          },
          {
            "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')])"
          }
        ],
        "isModifier": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "inboundRelationship[typeCode=SUBJ].source"
          }
        ]
      },
      {
        "id": "Extension:geneticmarkers,ethnicity,etc.id",
        "path": "Extension.id",
        "representation": [
          "xmlAttr"
        ],
        "short": "xml:id (or equivalent in JSON)",
        "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": "*"
        },
        "type": [
          {
            "code": "string"
          }
        ],
        "mapping": [
          {
            "identity": "rim",
            "map": "n/a"
          }
        ]
      },
      {
        "id": "Extension:geneticmarkers,ethnicity,etc.extension:extension",
        "path": "Extension.extension",
        "name": "extension",
        "short": "Extension",
        "definition": "An Extension",
        "min": 0,
        "max": "0",
        "base": {
          "path": "Element.extension",
          "min": 0,
          "max": "*"
        },
        "type": [
          {
            "code": "Extension"
          }
        ]
      },
      {
        "id": "Extension:geneticmarkers,ethnicity,etc.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.",
        "comments": "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": [
          {
            "code": "uri"
          }
        ],
        "fixedUri": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation",
        "mapping": [
          {
            "identity": "rim",
            "map": "N/A"
          }
        ]
      },
      {
        "id": "Extension:geneticmarkers,ethnicity,etc.valueReference",
        "path": "Extension.valueReference",
        "short": "Measurements and simple assertions",
        "definition": "Measurements and simple assertions made about a patient, device or other subject.",
        "comments": "Used for simple observations such as device measurements, laboratory atomic results, vital signs, height, weight, smoking status, comments, etc.  Other resources are used to provide context for observations such as lab reports, etc.",
        "alias": [
          "Vital Signs",
          "Measurement",
          "Results",
          "Tests"
        ],
        "min": 1,
        "max": "1",
        "base": {
          "path": "Extension.value[x]",
          "min": 0,
          "max": "1"
        },
        "type": [
          {
            "code": "Reference",
            "profile": "http://hl7.org/fhir/StructureDefinition/Observation"
          }
        ],
        "mapping": [
          {
            "identity": "rim",
            "map": "Entity. Role, or Act"
          },
          {
            "identity": "v2",
            "map": "OBX"
          },
          {
            "identity": "rim",
            "map": "Observation[classCode=OBS, moodCode=EVN]"
          },
          {
            "identity": "w5",
            "map": "clinical.diagnostics"
          }
        ]
      }
    ]
  },
  "differential": {
    "element": [
      {
        "id": "Extension:geneticmarkers,ethnicity,etc",
        "path": "Extension",
        "short": "Genetic markers, ethnicity, etc.",
        "definition": "Allows capturing risk-relevant observations about the relative that aren't themselves a specific health condition; e.g. Certain ethnic ancestries that are disease-relevant, presence of particular genetic markers, etc.",
        "comments": "This may be extended with additional genomics-specific resources when they are ready.",
        "min": 0,
        "max": "*",
        "isModifier": false,
        "mapping": [
          {
            "identity": "rim",
            "map": "inboundRelationship[typeCode=SUBJ].source"
          }
        ]
      },
      {
        "id": "Extension:geneticmarkers,ethnicity,etc.extension:extension",
        "path": "Extension.extension",
        "name": "extension",
        "max": "0"
      },
      {
        "id": "Extension:geneticmarkers,ethnicity,etc.url",
        "path": "Extension.url",
        "type": [
          {
            "code": "uri"
          }
        ],
        "fixedUri": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation"
      },
      {
        "id": "Extension:geneticmarkers,ethnicity,etc.value[x]",
        "path": "Extension.value[x]",
        "min": 1,
        "type": [
          {
            "code": "Reference",
            "profile": "http://hl7.org/fhir/StructureDefinition/Observation"
          }
        ]
      }
    ]
  }
}