Scope and Usage
A 'condition' can be either a disease affecting the individual or a set of one or more phenotypes the individual exhibits.
Attributes
| Name | Type | Cardinality | Description | IRI | Defined in |
|---|---|---|---|---|---|
| individual | @id | 0..1 | The person being assessed for the condition | SEPIO:0000280 | IndividualConditionStatement |
| statementOutcome | @id | 0..1 | Whether or not the person has the condition | SEPIO:0000197 | IndividualConditionStatement |
| condition | GeneticCondition | 1..* | The condition that the person may have | SEPIO:0000276 | IndividualConditionStatement |
| label | string | 0..1 | A name given to the resource. | RDFS:label | Entity |
| description | string | 0..1 | Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. | DC:description | Entity |
| userLabelDictionary | UserLabel | 0..* | An optional label defined by the user. Used for custom entities or to clarify the preferred user label on existing entities with non-preferred labels. | SEPIO:0000422 | Statement |
| outcomeQualifier | string | 0..1 | Use “NOT” as the value of this property to assert that the statement is negated. | SEPIO:0000346 | Statement |
| evidenceLine | EvidenceLine | 0..* | supporting evidence | SEPIO:0000006 | Statement |
| contribution | Contribution | 0..* | The contributions (agent, time and role) made to this entity | SEPIO:0000159 | Statement |
| source | string | 0..* | A string indicating the source of a Statement | DC:source | Statement |
Instances
| ID | label | description | userLabelDictionary | outcomeQualifier | evidenceLine | individual | statementOutcome | condition |
|---|---|---|---|---|---|---|---|---|
|
This proband had mild to profound hearing loss with EVA, which is characteristic of Pendred Syndrome. |
(individual #029) | (affected) | ||||||
| (individual #001) | (affected) | |||||||
| (individual #002) | (affected) | |||||||
| (individual #003) | (affected) | |||||||
| (individual #004) | (affected) | |||||||
| (individual #005) | (affected) | |||||||
| (individual #006) | (affected) | |||||||
| (individual #007) | (affected) | |||||||
| (individual #008) | (affected) | |||||||
| (individual #009) | (affected) | |||||||
| (individual #010) | (affected) | |||||||
| (individual #011) | (affected) | |||||||
| (individual #012) | (affected) | |||||||
| (individual #030) | (affected) | |||||||
| (individual #013) | (unaffected) | |||||||
| (individual #014) | (unaffected) | |||||||
| (individual #015) | (unaffected) | |||||||
| (individual #016) | (unaffected) | |||||||
| (individual #017) | (unaffected) | |||||||
| (individual #018) | (unaffected) | |||||||
| (individual #019) | (unaffected) | |||||||
| (individual #020) | (unaffected) | |||||||
| (individual #021) | (affected) | |||||||
| (individual #022) | (affected) | |||||||
| (individual #023) | (affected) | |||||||
| (individual #024) | (affected) | |||||||
| (individual #025) | (affected) | |||||||
| (individual #026) | (affected) | |||||||
| (individual #027) | (affected) | |||||||
| (individual #028) | (affected) |