description: This profile defines a phenotype representation package_name: hl7.fhir.uv.phenomics-exchange derivation: constraint name: ObservationPhenotype type: Observation elements: code: {short: A code representing the phenotype, mustSupport: true, index: 0} value: short: An assertion for the presence or absence of the phenotype mustSupport: true choices: [valueCodeableConcept] index: 2 valueCodeableConcept: {type: CodeableConcept, short: An assertion for the presence or absence of the phenotype, mustSupport: true, choiceOf: value, index: 3} component: short: Phenotype components index: 4 slicing: rules: open discriminator: - {path: code, type: value} min: null slices: age-resolution-range: match: code: coding: - {code: AGE_RESOLUTION_RANGE, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} schema: short: The age of resolution since birth, in the form of a range of time index: 35 elements: code: pattern: type: CodeableConcept value: coding: - {code: AGE_RESOLUTION_RANGE, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} index: 36 value: choices: [valueRange] index: 38 valueRange: {type: Range, choiceOf: value, index: 39} required: [valueRange, value] qualifiers: match: code: coding: - {code: QUALIFIER, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} schema: short: Phenotype qualifiers array: true index: 25 elements: code: pattern: type: CodeableConcept value: coding: - {code: QUALIFIER, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} index: 26 value: choices: [valueCodeableConcept] index: 28 valueCodeableConcept: {type: CodeableConcept, choiceOf: value, index: 29} required: [value, valueCodeableConcept] age-onset-range: match: code: coding: - {code: AGE_ONSET_RANGE, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} schema: short: The age of onset since birth, in the form of a range of time index: 10 elements: code: pattern: type: CodeableConcept value: coding: - {code: AGE_ONSET_RANGE, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} index: 11 value: choices: [valueRange] index: 13 valueRange: {type: Range, choiceOf: value, index: 14} required: [valueRange, value] age-resolution-coded: match: code: coding: - {code: AGE_RESOLUTION_CODED, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} schema: short: The age of resolution since birth, in the form of a coded concept index: 40 elements: code: pattern: type: CodeableConcept value: coding: - {code: AGE_RESOLUTION_CODED, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} index: 41 value: choices: [valueCodeableConcept] index: 43 valueCodeableConcept: {type: CodeableConcept, choiceOf: value, index: 44} required: [value, valueCodeableConcept] age-resolution-gestational: match: code: coding: - {code: AGE_RESOLUTION_GESTATIONAL, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} schema: short: The gestational age of resolution, in the form of a quantity of time index: 45 elements: code: pattern: type: CodeableConcept value: coding: - {code: AGE_RESOLUTION_GESTATIONAL, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} index: 46 value: choices: [valueQuantity] index: 48 valueQuantity: {type: Quantity, choiceOf: value, index: 49} required: [value, valueQuantity] age-onset-gestational: match: code: coding: - {code: AGE_ONSET_GESTATIONAL, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} schema: short: The gestational age of onset, in the form of a quantity of time index: 20 elements: code: pattern: type: CodeableConcept value: coding: - {code: AGE_ONSET_GESTATIONAL, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} index: 21 value: choices: [valueQuantity] index: 23 valueQuantity: {type: Quantity, choiceOf: value, index: 24} required: [value, valueQuantity] age-resolution: match: code: coding: - {code: AGE_RESOLUTION, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} schema: short: The age of resolution since birth, in the form of a quantity of time index: 30 elements: code: pattern: type: CodeableConcept value: coding: - {code: AGE_RESOLUTION, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} index: 31 value: choices: [valueQuantity] index: 33 valueQuantity: {type: Quantity, choiceOf: value, index: 34} required: [value, valueQuantity] age-onset-coded: match: code: coding: - {code: AGE_ONSET_CODED, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} schema: short: The age of onset since birth, in the form of a coded concept index: 15 elements: code: pattern: type: CodeableConcept value: coding: - {code: AGE_ONSET_CODED, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} index: 16 value: choices: [valueCodeableConcept] index: 18 valueCodeableConcept: {type: CodeableConcept, choiceOf: value, index: 19} required: [value, valueCodeableConcept] age-onset: match: code: coding: - {code: AGE_ONSET, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} schema: short: The age of onset since birth, in the form of a quantity of time index: 5 elements: code: pattern: type: CodeableConcept value: coding: - {code: AGE_ONSET, system: 'http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/temporary-phenotype-component'} index: 6 value: choices: [valueQuantity] index: 8 valueQuantity: {type: Quantity, choiceOf: value, index: 9} required: [value, valueQuantity] package_version: 1.0.0-ballot class: profile kind: resource url: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/phenotype base: http://hl7.org/fhir/StructureDefinition/Observation version: 1.0.0-ballot required: [value, valueCodeableConcept]