Type: object
Description: Message to indicate a disease (diagnosis) and its recorded onset.

Properties

ageOfOnset

• type: https://schemablocks.org/schemas/sb-phenopackets/v1.0.0/Age.json [LINK]

The onset of the disease. The values of this will come from the HPO onset hierarchy i.e. subclasses of HP:0003674 FHIR mapping: Condition.onset

ageOfOnset Value Example

{
   "age" : "P35Y"
}

ageRangeOfOnset

• type: https://schemablocks.org/schemas/sb-phenopackets/v1.0.0/AgeRange.json [LINK]

The onset of the disease. The values of this will come from the HPO onset hierarchy i.e. subclasses of HP:0003674 FHIR mapping: Condition.onset

ageRangeOfOnset Value Example

{
   "start" : {
      "age" : "P35Y"
   }
}

classOfOnset

• type: https://schemablocks.org/schemas/sb-phenopackets/v1.0.0/OntologyClass.json [LINK]

The onset of the disease. The values of this will come from the HPO onset hierarchy i.e. subclasses of HP:0003674 FHIR mapping: Condition.onset

classOfOnset Value Example

{
   "id" : "HP:0003596",
   "label" : "Middle age onset"
}

diseaseStage

• type: array of “https://schemablocks.org/schemas/sb-phenopackets/v1.0.0/OntologyClass.json [LINK]”

Disease staging, the extent to which a disease has developed. For cancers, see https://www.cancer.gov/about-cancer/diagnosis-staging/staging Valid values include child terms of NCIT:C28108 (Disease Stage Qualifier)

diseaseStage Value Example

[
   {
      "id" : "NCIT:C90529",
      "label" : "AJCC v6 Stage"
   }
]

term

• type: https://schemablocks.org/schemas/sb-phenopackets/v1.0.0/OntologyClass.json [LINK]

The identifier of this disease e.g. MONDO:0007043, OMIM:101600, Orphanet:710, DOID:14705 (note these are all equivalent)

term Value Example

{
   "id" : "MONDO:0007043"
}

tnmFinding

• type: array of “https://schemablocks.org/schemas/sb-phenopackets/v1.0.0/OntologyClass.json [LINK]”

Cancer findings in the TNM system that is relevant to the diagnosis of cancer. See https://www.cancer.gov/about-cancer/diagnosis-staging/staging Valid values include child terms of NCIT:C48232 (Cancer TNM Finding)

tnmFinding Value Example

[
   {
      "id" : "NCIT:C48232",
      "label" : "Cancer TNM Finding"
   }
]

Disease Value Example

{
   "classOfOnset" : {
      "id" : "HP:0003596",
      "label" : "Middle age onset"
   },
   "term" : {
      "id" : "MONDO:0007043",
      "label" : "Pfeiffer syndrome"
   }
}