Birth And Fetal Death (BFDR) FHIR Implementation Guide
2.0.0 - STU2
Birth And Fetal Death (BFDR) FHIR Implementation Guide
2.0.0 - STU2
Birth And Fetal Death (BFDR) FHIR Implementation Guide, published by HL7 International / Public Health. This guide is not an authorized publication; it is the continuous build for version 2.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/fhir-bfdr/ and changes regularly. See the Directory of published versions
| Official URL: http://hl7.org/fhir/us/bfdr/StructureDefinition/Condition-congenital-anomaly-of-newborn | Version: 2.0.0 | |||
| Standards status: Draft | Computable Name: ConditionCongenitalAnomalyOfNewborn | |||
| Other Identifiers: OID:2.16.840.1.113883.4.642.40.13.42.14 | ||||
This Condition profile represents information on whether the infant suffered from one or more of a list of known malformations diagnosed prenatally or after delivery.
In the case the infant suffers from a chromosomal disorder or Down syndrome, a Karyotype status of confirmed or pending can be provided. If neither is provided the status is unknown.
| Use Case | # | Description | IJE Name | Field | Type | Value Set/Comments |
|---|---|---|---|---|---|---|
| Natality | 219 | Congenital Anomalies of the Newborn--Anencephaly | ANEN | code=89369001 (Anencephalus (disorder)) | na | See note on missing congenital anomaly data |
| Natality | 220 | Congenital Anomalies of the Newborn--Meningomyelocele/Spina Bifida | MNSB | code=67531005 (Spina bifida (disorder)) | na | See note on missing congenital anomaly data |
| Natality | 221 | Congenital Anomalies of the Newborn--Cyanotic congenital heart disease | CCHD | code=12770006 (Cyanotic congenital heart disease (disorder)) | na | See note on missing congenital anomaly data |
| Natality | 222 | Congenital Anomalies of the Newborn--Congenital diaphragmatic hernia | CDH | code=17190001 (Congenital diaphragmatic hernia (disorder)) | na | See note on missing congenital anomaly data |
| Natality | 223 | Congenital Anomalies of the Newborn--Omphalocele | OMPH | code=18735004 (Congenital omphalocele (disorder)) | na | See note on missing congenital anomaly data |
| Natality | 224 | Congenital Anomalies of the Newborn--Gastroschisis | GAST | code=72951007 (Gastroschisis (disorder)) | na | See note on missing congenital anomaly data |
| Natality | 225 | Congenital Anomalies of the Newborn--Limb Reduction Defect | LIMB | code=67341007 (Longitudinal deficiency of limb (disorder)) | na | See note on missing congenital anomaly data |
| Natality | 226 | Congenital Anomalies of the Newborn--Cleft Lip with or without Cleft Palate | CL | code=80281008 (Cleft lip (disorder)) | na | See note on missing congenital anomaly data |
| Natality | 227 | Congenital Anomalies of the Newborn--Cleft Palate Alone | CP | code=87979003 (Cleft palate (disorder)) | na | See note on missing congenital anomaly data |
| Natality | 228 | Congenital Anomalies of the Newborn--Down Syndrome | DOWT | code=70156005 (Anomaly of chromosome pair 21 (disorder)) | na | See note on missing congenital anomaly data |
| Natality | 229 | Congenital Anomalies of the Newborn--Suspected Chromosomal disorder | CDIT | code=409709004 (Chromosomal disorder (disorder)) | na | See note on missing congenital anomaly data |
| Natality | 230 | Congenital Anomalies of the Newborn--Hypospadias | HYPO | code=416010008 (Hypospadias (disorder)) | na | See note on missing congenital anomaly data |
| Item # | Form Field | FHIR Profile Field | Reference |
|---|---|---|---|
| 55 | Congenital Anomalies of the Newborn | - | Certificate of Live Birth |
| 37 | Congenital anomalies of the newborn | - | Facility Worksheet for the Live Birth Certificate |
| 37 | Congenital anomalies of the newborn | - | Attachment to the Facility Worksheet for the Live Birth Certificate for Multiple Births |
Usages:
You can also check for usages in the FHIR IG Statistics
Description of Profiles, Differentials, Snapshots and how the different presentations work.
| Name | Flags | Card. | Type | Description & Constraints Filter:   |
|---|---|---|---|---|
  Condition |
C | 0..* | USCoreConditionProblemsHealthConcernsProfile | Information on whether the infant suffered from one or more of a list of known malformations diagnosed prenatally or after delivery. Constraints: con-3, con-4, con-5 |
  implicitRules |
?!Σ | 0..1 | uri | A set of rules under which this content was created |
  Slices for extension |
Content/Rules for all slices | |||
   extension:assertedDate |
S | 0..1 | dateTime | Date the condition was first asserted URL: http://hl7.org/fhir/StructureDefinition/condition-assertedDate |
 modifierExtension |
?! | 0..* | Extension | Extensions that cannot be ignored |
 clinicalStatus |
?!SΣC | 0..1 | CodeableConcept | active | recurrence | relapse | inactive | remission | resolved Binding: ConditionClinicalStatusCodes (required) |
| verificationStatus |
?!SΣC | 0..1 | CodeableConcept | unconfirmed | provisional | differential | confirmed | refuted | entered-in-error Binding: ConditionVerificationStatus (required) |
| Slices for category |
S | 2..* | CodeableConcept | category codes Slice: Unordered, Open by pattern:$this Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. |
 category:us-core |
S | 1..* | CodeableConcept | problem-list-item | health-concern Binding: US Core Problem or Health Concern (required) |
 category:sdoh |
S | 0..1 | CodeableConcept | problem-list-item | encounter-diagnosis Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. Required Pattern: At least the following |
  id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
  coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
 id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/us/core/CodeSystem/us-core-tags | |
| version |
0..1 | string | Version of the system - if relevant | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: sdoh | |
| display |
0..1 | string | Representation defined by the system | |
 userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |
 text |
0..1 | string | Plain text representation of the concept | |
 category:requiredCategory |
S | 1..1 | CodeableConcept | Congenital anomalies of the newborn [US Standard Certificate of Live Birth] Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. Required Pattern: At least the following |
 id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version |
0..1 | string | Version of the system - if relevant | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 73780-9 | |
| display |
0..1 | string | Representation defined by the system | |
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |
| text |
0..1 | string | Plain text representation of the concept | |
| code |
SΣ | 1..1 | CodeableConcept | The value set contain the list of values use to specify malformations of the newborn diagnosed prenatally or after delivery. Binding: Newborn Congenital Anomalies (required): Newborn Congenital Anomalies (NCHS) |
 subject |
SΣ | 1..1 | Reference(Patient - Child Vital Records) | Who has the condition? |
 onset[x] |
SΣ | 0..1 | Estimated or actual date, date-time, or age | |
| onsetDateTime |
dateTime S | |||
| onsetAge |
Age | |||
| onsetPeriod |
Period | |||
| onsetRange |
Range | |||
| onsetString |
string | |||
| abatement[x] |
SC | 0..1 | When in resolution/remission | |
| abatementDateTime |
dateTime S | |||
| abatementAge |
Age | |||
| abatementPeriod |
Period | |||
| abatementRange |
Range | |||
| abatementString |
string | |||
| recordedDate |
SΣ | 0..1 | dateTime | Date record was first recorded |
 Slices for evidence |
C | 0..1 | BackboneElement | In the case there is a diagnosis of syspected chromosomal disorder or Down syndrome, a Karyotype status of confirmed or pending can be provided. Lack of karyotype status signifies status is unknown. Slice: Unordered, Open by value:code Constraints: con-2 |
 evidence:All Slices |
Content/Rules for all slices | |||
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| evidence:karyotypePending |
C | 0..1 | BackboneElement | Karyotype pending if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21. Constraints: con-2 |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
 code |
ΣC | 1..1 | CodeableConcept | Suspected chromosomal disorder or Down Syndrome: Karyotype pending Binding: ManifestationAndSymptomCodes (example): Codes that describe the manifestation or symptoms of a condition. Required Pattern: At least the following |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://snomed.info/sct | |
| version |
0..1 | string | Version of the system - if relevant | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 312948004 | |
| display |
0..1 | string | Representation defined by the system | |
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |
| text |
0..1 | string | Plain text representation of the concept | |
| evidence:karyotypeConfirmedAbmormal |
C | 0..1 | BackboneElement | Karyotype confirmed if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21. Constraints: con-2 |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code |
ΣC | 1..1 | CodeableConcept | Suspected chromosomal disorder or Down Syndrome: Karyotype confirmed Binding: ManifestationAndSymptomCodes (example): Codes that describe the manifestation or symptoms of a condition. Required Pattern: At least the following |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://snomed.info/sct | |
| version |
0..1 | string | Version of the system - if relevant | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 442124003 | |
| display |
0..1 | string | Representation defined by the system | |
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |
| text |
0..1 | string | Plain text representation of the concept | |
| Documentation for this format | ||||
| Path | Conformance | ValueSet / Code | URI |
| Condition.clinicalStatus | required | ConditionClinicalStatusCodeshttp://hl7.org/fhir/ValueSet/condition-clinicalFrom the FHIR Standard | |
| Condition.verificationStatus | required | ConditionVerificationStatushttp://hl7.org/fhir/ValueSet/condition-ver-statusFrom the FHIR Standard | |
| Condition.category | extensible | ConditionCategoryCodeshttp://hl7.org/fhir/ValueSet/condition-categoryFrom the FHIR Standard | |
| Condition.category:us-core | required | USCoreProblemOrHealthConcernhttp://hl7.org/fhir/us/core/ValueSet/us-core-problem-or-health-concern | |
| Condition.category:sdoh | extensible | Pattern Value: sdohhttp://hl7.org/fhir/ValueSet/condition-categoryFrom the FHIR Standard | |
| Condition.category:requiredCategory | extensible | Pattern Value: LOINC Code 73780-9http://hl7.org/fhir/ValueSet/condition-categoryFrom the FHIR Standard | |
| Condition.code | required | NewbornCongenitalAnomaliesVShttp://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomaliesFrom this IG | |
| Condition.evidence:karyotypePending.code | example | Pattern Value: SNOMED-CT Code 312948004http://hl7.org/fhir/ValueSet/manifestation-or-symptomFrom the FHIR Standard | |
| Condition.evidence:karyotypeConfirmedAbmormal.code | example | Pattern Value: SNOMED-CT Code 442124003http://hl7.org/fhir/ValueSet/manifestation-or-symptomFrom the FHIR Standard |
| Id | Grade | Path(s) | Details | Requirements |
| con-2 | error | Condition.evidence, Condition.evidence:karyotypePending, Condition.evidence:karyotypeConfirmedAbmormal | evidence SHALL have code or details : code.exists() or detail.exists() | |
| con-3 | best practice | Condition | Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item : clinicalStatus.exists() or verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code = 'entered-in-error').exists() or category.select($this='problem-list-item').empty() | |
| con-4 | error | Condition | If condition is abated, then clinicalStatus must be either inactive, resolved, or remission : abatement.empty() or clinicalStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-clinical' and (code='resolved' or code='remission' or code='inactive')).exists() | |
| con-5 | error | Condition | Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error : verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code='entered-in-error').empty() or clinicalStatus.empty() | |
| dom-2 | error | Condition | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
| dom-3 | error | Condition | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
| dom-4 | error | Condition | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
| dom-5 | error | Condition | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
| dom-6 | best practice | Condition | A resource should have narrative for robust management : text.`div`.exists() | |
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() |
This structure is derived from USCoreConditionProblemsHealthConcernsProfile
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Condition |
0..* | USCoreConditionProblemsHealthConcernsProfile | Information on whether the infant suffered from one or more of a list of known malformations diagnosed prenatally or after delivery. | |
| Slices for category |
2..* | CodeableConcept | category codes Slice: Unordered, Open by pattern:$this | |
| category:requiredCategory |
1..1 | CodeableConcept | Congenital anomalies of the newborn [US Standard Certificate of Live Birth] Required Pattern: At least the following | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 73780-9 | |
| code |
1..1 | CodeableConcept | The value set contain the list of values use to specify malformations of the newborn diagnosed prenatally or after delivery. Binding: Newborn Congenital Anomalies (required): Newborn Congenital Anomalies (NCHS) | |
| subject |
1..1 | Reference(Patient - Child Vital Records) | Who has the condition? | |
| Slices for evidence |
0..1 | BackboneElement | In the case there is a diagnosis of syspected chromosomal disorder or Down syndrome, a Karyotype status of confirmed or pending can be provided. Lack of karyotype status signifies status is unknown. Slice: Unordered, Open by value:code | |
| evidence:karyotypePending |
0..1 | BackboneElement | Karyotype pending if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21. | |
| code |
1..1 | CodeableConcept | Suspected chromosomal disorder or Down Syndrome: Karyotype pending Required Pattern: At least the following | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://snomed.info/sct | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 312948004 | |
| evidence:karyotypeConfirmedAbmormal |
0..1 | BackboneElement | Karyotype confirmed if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21. | |
| code |
1..1 | CodeableConcept | Suspected chromosomal disorder or Down Syndrome: Karyotype confirmed Required Pattern: At least the following | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://snomed.info/sct | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 442124003 | |
| Documentation for this format | ||||
| Path | Conformance | ValueSet | URI |
| Condition.code | required | NewbornCongenitalAnomaliesVShttp://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomaliesFrom this IG |
| Name | Flags | Card. | Type | Description & Constraints Filter: | ||||
|---|---|---|---|---|---|---|---|---|
| Condition |
C | 0..* | USCoreConditionProblemsHealthConcernsProfile | Information on whether the infant suffered from one or more of a list of known malformations diagnosed prenatally or after delivery. Constraints: con-3, con-4, con-5 | ||||
| id |
Σ | 0..1 | id | Logical id of this artifact | ||||
| meta |
Σ | 0..1 | Meta | Metadata about the resource | ||||
| implicitRules |
?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
| language |
0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
| |||||
| text |
0..1 | Narrative | Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements | |||||
| contained |
0..* | Resource | Contained, inline Resources | |||||
 Slices for extension |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
| extension:assertedDate |
S | 0..1 | dateTime | Date the condition was first asserted URL: http://hl7.org/fhir/StructureDefinition/condition-assertedDate | ||||
| modifierExtension |
?! | 0..* | Extension | Extensions that cannot be ignored | ||||
| identifier |
Σ | 0..* | Identifier | External Ids for this condition | ||||
| clinicalStatus |
?!SΣC | 0..1 | CodeableConcept | active | recurrence | relapse | inactive | remission | resolved Binding: ConditionClinicalStatusCodes (required) | ||||
| verificationStatus |
?!SΣC | 0..1 | CodeableConcept | unconfirmed | provisional | differential | confirmed | refuted | entered-in-error Binding: ConditionVerificationStatus (required) | ||||
| Slices for category |
S | 2..* | CodeableConcept | category codes Slice: Unordered, Open by pattern:$this Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. | ||||
| category:us-core |
S | 1..* | CodeableConcept | problem-list-item | health-concern Binding: US Core Problem or Health Concern (required) | ||||
| category:sdoh |
S | 0..1 | CodeableConcept | problem-list-item | encounter-diagnosis Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. Required Pattern: At least the following | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/us/core/CodeSystem/us-core-tags | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: sdoh | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| text |
0..1 | string | Plain text representation of the concept | |||||
| category:requiredCategory |
S | 1..1 | CodeableConcept | Congenital anomalies of the newborn [US Standard Certificate of Live Birth] Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. Required Pattern: At least the following | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 73780-9 | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| text |
0..1 | string | Plain text representation of the concept | |||||
| severity |
0..1 | CodeableConcept | Subjective severity of condition Binding: Condition/DiagnosisSeverity (preferred): A subjective assessment of the severity of the condition as evaluated by the clinician. | |||||
| code |
SΣ | 1..1 | CodeableConcept | The value set contain the list of values use to specify malformations of the newborn diagnosed prenatally or after delivery. Binding: Newborn Congenital Anomalies (required): Newborn Congenital Anomalies (NCHS) | ||||
| bodySite |
Σ | 0..* | CodeableConcept | Anatomical location, if relevant Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | ||||
| subject |
SΣ | 1..1 | Reference(Patient - Child Vital Records) | Who has the condition? | ||||
| encounter |
Σ | 0..1 | Reference(Encounter) | Encounter created as part of | ||||
| onset[x] |
SΣ | 0..1 | Estimated or actual date, date-time, or age | |||||
| onsetDateTime |
dateTime S | |||||||
| onsetAge |
Age | |||||||
| onsetPeriod |
Period | |||||||
| onsetRange |
Range | |||||||
| onsetString |
string | |||||||
| abatement[x] |
SC | 0..1 | When in resolution/remission | |||||
| abatementDateTime |
dateTime S | |||||||
| abatementAge |
Age | |||||||
| abatementPeriod |
Period | |||||||
| abatementRange |
Range | |||||||
| abatementString |
string | |||||||
| recordedDate |
SΣ | 0..1 | dateTime | Date record was first recorded | ||||
| recorder |
Σ | 0..1 | Reference(Practitioner | PractitionerRole | Patient | RelatedPerson) | Who recorded the condition | ||||
| asserter |
Σ | 0..1 | Reference(Practitioner | PractitionerRole | Patient | RelatedPerson) | Person who asserts this condition | ||||
| stage |
C | 0..* | BackboneElement | Stage/grade, usually assessed formally Constraints: con-1 | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
| summary |
C | 0..1 | CodeableConcept | Simple summary (disease specific) Binding: ConditionStage (example): Codes describing condition stages (e.g. Cancer stages). | ||||
| assessment |
C | 0..* | Reference(ClinicalImpression | DiagnosticReport | Observation) | Formal record of assessment | ||||
| type |
0..1 | CodeableConcept | Kind of staging Binding: ConditionStageType (example): Codes describing the kind of condition staging (e.g. clinical or pathological). | |||||
| Slices for evidence |
C | 0..1 | BackboneElement | In the case there is a diagnosis of syspected chromosomal disorder or Down syndrome, a Karyotype status of confirmed or pending can be provided. Lack of karyotype status signifies status is unknown. Slice: Unordered, Open by value:code Constraints: con-2 | ||||
| evidence:All Slices |
Content/Rules for all slices | |||||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
| code |
ΣC | 0..* | CodeableConcept | Manifestation/symptom Binding: ManifestationAndSymptomCodes (example): Codes that describe the manifestation or symptoms of a condition. | ||||
| detail |
ΣC | 0..* | Reference(Resource) | Supporting information found elsewhere | ||||
| evidence:karyotypePending |
C | 0..1 | BackboneElement | Karyotype pending if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21. Constraints: con-2 | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
| code |
ΣC | 1..1 | CodeableConcept | Suspected chromosomal disorder or Down Syndrome: Karyotype pending Binding: ManifestationAndSymptomCodes (example): Codes that describe the manifestation or symptoms of a condition. Required Pattern: At least the following | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://snomed.info/sct | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 312948004 | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| text |
0..1 | string | Plain text representation of the concept | |||||
| detail |
ΣC | 0..* | Reference(Resource) | Supporting information found elsewhere | ||||
| evidence:karyotypeConfirmedAbmormal |
C | 0..1 | BackboneElement | Karyotype confirmed if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21. Constraints: con-2 | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
| code |
ΣC | 1..1 | CodeableConcept | Suspected chromosomal disorder or Down Syndrome: Karyotype confirmed Binding: ManifestationAndSymptomCodes (example): Codes that describe the manifestation or symptoms of a condition. Required Pattern: At least the following | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://snomed.info/sct | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 442124003 | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| text |
0..1 | string | Plain text representation of the concept | |||||
| detail |
ΣC | 0..* | Reference(Resource) | Supporting information found elsewhere | ||||
| note |
0..* | Annotation | Additional information about the Condition | |||||
| Documentation for this format | ||||||||
| Path | Conformance | ValueSet / Code | URI | |||
| Condition.language | preferred | CommonLanguageshttp://hl7.org/fhir/ValueSet/languagesFrom the FHIR Standard
| ||||
| Condition.clinicalStatus | required | ConditionClinicalStatusCodeshttp://hl7.org/fhir/ValueSet/condition-clinicalFrom the FHIR Standard | ||||
| Condition.verificationStatus | required | ConditionVerificationStatushttp://hl7.org/fhir/ValueSet/condition-ver-statusFrom the FHIR Standard | ||||
| Condition.category | extensible | ConditionCategoryCodeshttp://hl7.org/fhir/ValueSet/condition-categoryFrom the FHIR Standard | ||||
| Condition.category:us-core | required | USCoreProblemOrHealthConcernhttp://hl7.org/fhir/us/core/ValueSet/us-core-problem-or-health-concern | ||||
| Condition.category:sdoh | extensible | Pattern Value: sdohhttp://hl7.org/fhir/ValueSet/condition-categoryFrom the FHIR Standard | ||||
| Condition.category:requiredCategory | extensible | Pattern Value: LOINC Code 73780-9http://hl7.org/fhir/ValueSet/condition-categoryFrom the FHIR Standard | ||||
| Condition.severity | preferred | Condition/DiagnosisSeverityhttp://hl7.org/fhir/ValueSet/condition-severityFrom the FHIR Standard | ||||
| Condition.code | required | NewbornCongenitalAnomaliesVShttp://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomaliesFrom this IG | ||||
| Condition.bodySite | example | SNOMEDCTBodyStructureshttp://hl7.org/fhir/ValueSet/body-siteFrom the FHIR Standard | ||||
| Condition.stage.summary | example | ConditionStagehttp://hl7.org/fhir/ValueSet/condition-stageFrom the FHIR Standard | ||||
| Condition.stage.type | example | ConditionStageTypehttp://hl7.org/fhir/ValueSet/condition-stage-typeFrom the FHIR Standard | ||||
| Condition.evidence.code | example | ManifestationAndSymptomCodeshttp://hl7.org/fhir/ValueSet/manifestation-or-symptomFrom the FHIR Standard | ||||
| Condition.evidence:karyotypePending.code | example | Pattern Value: SNOMED-CT Code 312948004http://hl7.org/fhir/ValueSet/manifestation-or-symptomFrom the FHIR Standard | ||||
| Condition.evidence:karyotypeConfirmedAbmormal.code | example | Pattern Value: SNOMED-CT Code 442124003http://hl7.org/fhir/ValueSet/manifestation-or-symptomFrom the FHIR Standard |
| Id | Grade | Path(s) | Details | Requirements |
| con-1 | error | Condition.stage | Stage SHALL have summary or assessment : summary.exists() or assessment.exists() | |
| con-2 | error | Condition.evidence, Condition.evidence:karyotypePending, Condition.evidence:karyotypeConfirmedAbmormal | evidence SHALL have code or details : code.exists() or detail.exists() | |
| con-3 | best practice | Condition | Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item : clinicalStatus.exists() or verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code = 'entered-in-error').exists() or category.select($this='problem-list-item').empty() | |
| con-4 | error | Condition | If condition is abated, then clinicalStatus must be either inactive, resolved, or remission : abatement.empty() or clinicalStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-clinical' and (code='resolved' or code='remission' or code='inactive')).exists() | |
| con-5 | error | Condition | Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error : verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code='entered-in-error').empty() or clinicalStatus.empty() | |
| dom-2 | error | Condition | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
| dom-3 | error | Condition | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
| dom-4 | error | Condition | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
| dom-5 | error | Condition | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
| dom-6 | best practice | Condition | A resource should have narrative for robust management : text.`div`.exists() | |
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() |
This structure is derived from USCoreConditionProblemsHealthConcernsProfile
Summary
Mandatory: 1 element(2 nested mandatory elements)
Structures
This structure refers to these other structures:
Slices
This structure defines the following Slices:
Key Elements View
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Condition |
C | 0..* | USCoreConditionProblemsHealthConcernsProfile | Information on whether the infant suffered from one or more of a list of known malformations diagnosed prenatally or after delivery. Constraints: con-3, con-4, con-5 |
| implicitRules |
?!Σ | 0..1 | uri | A set of rules under which this content was created |
| Slices for extension |
Content/Rules for all slices | |||
| extension:assertedDate |
S | 0..1 | dateTime | Date the condition was first asserted URL: http://hl7.org/fhir/StructureDefinition/condition-assertedDate |
| modifierExtension |
?! | 0..* | Extension | Extensions that cannot be ignored |
| clinicalStatus |
?!SΣC | 0..1 | CodeableConcept | active | recurrence | relapse | inactive | remission | resolved Binding: ConditionClinicalStatusCodes (required) |
| verificationStatus |
?!SΣC | 0..1 | CodeableConcept | unconfirmed | provisional | differential | confirmed | refuted | entered-in-error Binding: ConditionVerificationStatus (required) |
| Slices for category |
S | 2..* | CodeableConcept | category codes Slice: Unordered, Open by pattern:$this Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. |
| category:us-core |
S | 1..* | CodeableConcept | problem-list-item | health-concern Binding: US Core Problem or Health Concern (required) |
| category:sdoh |
S | 0..1 | CodeableConcept | problem-list-item | encounter-diagnosis Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. Required Pattern: At least the following |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/us/core/CodeSystem/us-core-tags | |
| version |
0..1 | string | Version of the system - if relevant | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: sdoh | |
| display |
0..1 | string | Representation defined by the system | |
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |
| text |
0..1 | string | Plain text representation of the concept | |
| category:requiredCategory |
S | 1..1 | CodeableConcept | Congenital anomalies of the newborn [US Standard Certificate of Live Birth] Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. Required Pattern: At least the following |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version |
0..1 | string | Version of the system - if relevant | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 73780-9 | |
| display |
0..1 | string | Representation defined by the system | |
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |
| text |
0..1 | string | Plain text representation of the concept | |
| code |
SΣ | 1..1 | CodeableConcept | The value set contain the list of values use to specify malformations of the newborn diagnosed prenatally or after delivery. Binding: Newborn Congenital Anomalies (required): Newborn Congenital Anomalies (NCHS) |
| subject |
SΣ | 1..1 | Reference(Patient - Child Vital Records) | Who has the condition? |
| onset[x] |
SΣ | 0..1 | Estimated or actual date, date-time, or age | |
| onsetDateTime |
dateTime S | |||
| onsetAge |
Age | |||
| onsetPeriod |
Period | |||
| onsetRange |
Range | |||
| onsetString |
string | |||
| abatement[x] |
SC | 0..1 | When in resolution/remission | |
| abatementDateTime |
dateTime S | |||
| abatementAge |
Age | |||
| abatementPeriod |
Period | |||
| abatementRange |
Range | |||
| abatementString |
string | |||
| recordedDate |
SΣ | 0..1 | dateTime | Date record was first recorded |
| Slices for evidence |
C | 0..1 | BackboneElement | In the case there is a diagnosis of syspected chromosomal disorder or Down syndrome, a Karyotype status of confirmed or pending can be provided. Lack of karyotype status signifies status is unknown. Slice: Unordered, Open by value:code Constraints: con-2 |
| evidence:All Slices |
Content/Rules for all slices | |||
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| evidence:karyotypePending |
C | 0..1 | BackboneElement | Karyotype pending if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21. Constraints: con-2 |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code |
ΣC | 1..1 | CodeableConcept | Suspected chromosomal disorder or Down Syndrome: Karyotype pending Binding: ManifestationAndSymptomCodes (example): Codes that describe the manifestation or symptoms of a condition. Required Pattern: At least the following |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://snomed.info/sct | |
| version |
0..1 | string | Version of the system - if relevant | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 312948004 | |
| display |
0..1 | string | Representation defined by the system | |
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |
| text |
0..1 | string | Plain text representation of the concept | |
| evidence:karyotypeConfirmedAbmormal |
C | 0..1 | BackboneElement | Karyotype confirmed if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21. Constraints: con-2 |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code |
ΣC | 1..1 | CodeableConcept | Suspected chromosomal disorder or Down Syndrome: Karyotype confirmed Binding: ManifestationAndSymptomCodes (example): Codes that describe the manifestation or symptoms of a condition. Required Pattern: At least the following |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://snomed.info/sct | |
| version |
0..1 | string | Version of the system - if relevant | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 442124003 | |
| display |
0..1 | string | Representation defined by the system | |
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |
| text |
0..1 | string | Plain text representation of the concept | |
| Documentation for this format | ||||
| Path | Conformance | ValueSet / Code | URI |
| Condition.clinicalStatus | required | ConditionClinicalStatusCodeshttp://hl7.org/fhir/ValueSet/condition-clinicalFrom the FHIR Standard | |
| Condition.verificationStatus | required | ConditionVerificationStatushttp://hl7.org/fhir/ValueSet/condition-ver-statusFrom the FHIR Standard | |
| Condition.category | extensible | ConditionCategoryCodeshttp://hl7.org/fhir/ValueSet/condition-categoryFrom the FHIR Standard | |
| Condition.category:us-core | required | USCoreProblemOrHealthConcernhttp://hl7.org/fhir/us/core/ValueSet/us-core-problem-or-health-concern | |
| Condition.category:sdoh | extensible | Pattern Value: sdohhttp://hl7.org/fhir/ValueSet/condition-categoryFrom the FHIR Standard | |
| Condition.category:requiredCategory | extensible | Pattern Value: LOINC Code 73780-9http://hl7.org/fhir/ValueSet/condition-categoryFrom the FHIR Standard | |
| Condition.code | required | NewbornCongenitalAnomaliesVShttp://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomaliesFrom this IG | |
| Condition.evidence:karyotypePending.code | example | Pattern Value: SNOMED-CT Code 312948004http://hl7.org/fhir/ValueSet/manifestation-or-symptomFrom the FHIR Standard | |
| Condition.evidence:karyotypeConfirmedAbmormal.code | example | Pattern Value: SNOMED-CT Code 442124003http://hl7.org/fhir/ValueSet/manifestation-or-symptomFrom the FHIR Standard |
| Id | Grade | Path(s) | Details | Requirements |
| con-2 | error | Condition.evidence, Condition.evidence:karyotypePending, Condition.evidence:karyotypeConfirmedAbmormal | evidence SHALL have code or details : code.exists() or detail.exists() | |
| con-3 | best practice | Condition | Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item : clinicalStatus.exists() or verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code = 'entered-in-error').exists() or category.select($this='problem-list-item').empty() | |
| con-4 | error | Condition | If condition is abated, then clinicalStatus must be either inactive, resolved, or remission : abatement.empty() or clinicalStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-clinical' and (code='resolved' or code='remission' or code='inactive')).exists() | |
| con-5 | error | Condition | Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error : verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code='entered-in-error').empty() or clinicalStatus.empty() | |
| dom-2 | error | Condition | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
| dom-3 | error | Condition | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
| dom-4 | error | Condition | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
| dom-5 | error | Condition | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
| dom-6 | best practice | Condition | A resource should have narrative for robust management : text.`div`.exists() | |
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() |
Differential View
This structure is derived from USCoreConditionProblemsHealthConcernsProfile
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Condition |
0..* | USCoreConditionProblemsHealthConcernsProfile | Information on whether the infant suffered from one or more of a list of known malformations diagnosed prenatally or after delivery. | |
| Slices for category |
2..* | CodeableConcept | category codes Slice: Unordered, Open by pattern:$this | |
| category:requiredCategory |
1..1 | CodeableConcept | Congenital anomalies of the newborn [US Standard Certificate of Live Birth] Required Pattern: At least the following | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 73780-9 | |
| code |
1..1 | CodeableConcept | The value set contain the list of values use to specify malformations of the newborn diagnosed prenatally or after delivery. Binding: Newborn Congenital Anomalies (required): Newborn Congenital Anomalies (NCHS) | |
| subject |
1..1 | Reference(Patient - Child Vital Records) | Who has the condition? | |
| Slices for evidence |
0..1 | BackboneElement | In the case there is a diagnosis of syspected chromosomal disorder or Down syndrome, a Karyotype status of confirmed or pending can be provided. Lack of karyotype status signifies status is unknown. Slice: Unordered, Open by value:code | |
| evidence:karyotypePending |
0..1 | BackboneElement | Karyotype pending if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21. | |
| code |
1..1 | CodeableConcept | Suspected chromosomal disorder or Down Syndrome: Karyotype pending Required Pattern: At least the following | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://snomed.info/sct | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 312948004 | |
| evidence:karyotypeConfirmedAbmormal |
0..1 | BackboneElement | Karyotype confirmed if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21. | |
| code |
1..1 | CodeableConcept | Suspected chromosomal disorder or Down Syndrome: Karyotype confirmed Required Pattern: At least the following | |
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://snomed.info/sct | |
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 442124003 | |
| Documentation for this format | ||||
| Path | Conformance | ValueSet | URI |
| Condition.code | required | NewbornCongenitalAnomaliesVShttp://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomaliesFrom this IG |
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints Filter: | ||||
|---|---|---|---|---|---|---|---|---|
| Condition |
C | 0..* | USCoreConditionProblemsHealthConcernsProfile | Information on whether the infant suffered from one or more of a list of known malformations diagnosed prenatally or after delivery. Constraints: con-3, con-4, con-5 | ||||
| id |
Σ | 0..1 | id | Logical id of this artifact | ||||
| meta |
Σ | 0..1 | Meta | Metadata about the resource | ||||
| implicitRules |
?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
| language |
0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
| |||||
| text |
0..1 | Narrative | Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements | |||||
| contained |
0..* | Resource | Contained, inline Resources | |||||
| Slices for extension |
0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
| extension:assertedDate |
S | 0..1 | dateTime | Date the condition was first asserted URL: http://hl7.org/fhir/StructureDefinition/condition-assertedDate | ||||
| modifierExtension |
?! | 0..* | Extension | Extensions that cannot be ignored | ||||
| identifier |
Σ | 0..* | Identifier | External Ids for this condition | ||||
| clinicalStatus |
?!SΣC | 0..1 | CodeableConcept | active | recurrence | relapse | inactive | remission | resolved Binding: ConditionClinicalStatusCodes (required) | ||||
| verificationStatus |
?!SΣC | 0..1 | CodeableConcept | unconfirmed | provisional | differential | confirmed | refuted | entered-in-error Binding: ConditionVerificationStatus (required) | ||||
| Slices for category |
S | 2..* | CodeableConcept | category codes Slice: Unordered, Open by pattern:$this Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. | ||||
| category:us-core |
S | 1..* | CodeableConcept | problem-list-item | health-concern Binding: US Core Problem or Health Concern (required) | ||||
| category:sdoh |
S | 0..1 | CodeableConcept | problem-list-item | encounter-diagnosis Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. Required Pattern: At least the following | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/us/core/CodeSystem/us-core-tags | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: sdoh | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| text |
0..1 | string | Plain text representation of the concept | |||||
| category:requiredCategory |
S | 1..1 | CodeableConcept | Congenital anomalies of the newborn [US Standard Certificate of Live Birth] Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. Required Pattern: At least the following | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 73780-9 | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| text |
0..1 | string | Plain text representation of the concept | |||||
| severity |
0..1 | CodeableConcept | Subjective severity of condition Binding: Condition/DiagnosisSeverity (preferred): A subjective assessment of the severity of the condition as evaluated by the clinician. | |||||
| code |
SΣ | 1..1 | CodeableConcept | The value set contain the list of values use to specify malformations of the newborn diagnosed prenatally or after delivery. Binding: Newborn Congenital Anomalies (required): Newborn Congenital Anomalies (NCHS) | ||||
| bodySite |
Σ | 0..* | CodeableConcept | Anatomical location, if relevant Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | ||||
| subject |
SΣ | 1..1 | Reference(Patient - Child Vital Records) | Who has the condition? | ||||
| encounter |
Σ | 0..1 | Reference(Encounter) | Encounter created as part of | ||||
| onset[x] |
SΣ | 0..1 | Estimated or actual date, date-time, or age | |||||
| onsetDateTime |
dateTime S | |||||||
| onsetAge |
Age | |||||||
| onsetPeriod |
Period | |||||||
| onsetRange |
Range | |||||||
| onsetString |
string | |||||||
| abatement[x] |
SC | 0..1 | When in resolution/remission | |||||
| abatementDateTime |
dateTime S | |||||||
| abatementAge |
Age | |||||||
| abatementPeriod |
Period | |||||||
| abatementRange |
Range | |||||||
| abatementString |
string | |||||||
| recordedDate |
SΣ | 0..1 | dateTime | Date record was first recorded | ||||
| recorder |
Σ | 0..1 | Reference(Practitioner | PractitionerRole | Patient | RelatedPerson) | Who recorded the condition | ||||
| asserter |
Σ | 0..1 | Reference(Practitioner | PractitionerRole | Patient | RelatedPerson) | Person who asserts this condition | ||||
| stage |
C | 0..* | BackboneElement | Stage/grade, usually assessed formally Constraints: con-1 | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
| summary |
C | 0..1 | CodeableConcept | Simple summary (disease specific) Binding: ConditionStage (example): Codes describing condition stages (e.g. Cancer stages). | ||||
| assessment |
C | 0..* | Reference(ClinicalImpression | DiagnosticReport | Observation) | Formal record of assessment | ||||
| type |
0..1 | CodeableConcept | Kind of staging Binding: ConditionStageType (example): Codes describing the kind of condition staging (e.g. clinical or pathological). | |||||
| Slices for evidence |
C | 0..1 | BackboneElement | In the case there is a diagnosis of syspected chromosomal disorder or Down syndrome, a Karyotype status of confirmed or pending can be provided. Lack of karyotype status signifies status is unknown. Slice: Unordered, Open by value:code Constraints: con-2 | ||||
| evidence:All Slices |
Content/Rules for all slices | |||||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
| code |
ΣC | 0..* | CodeableConcept | Manifestation/symptom Binding: ManifestationAndSymptomCodes (example): Codes that describe the manifestation or symptoms of a condition. | ||||
| detail |
ΣC | 0..* | Reference(Resource) | Supporting information found elsewhere | ||||
| evidence:karyotypePending |
C | 0..1 | BackboneElement | Karyotype pending if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21. Constraints: con-2 | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
| code |
ΣC | 1..1 | CodeableConcept | Suspected chromosomal disorder or Down Syndrome: Karyotype pending Binding: ManifestationAndSymptomCodes (example): Codes that describe the manifestation or symptoms of a condition. Required Pattern: At least the following | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://snomed.info/sct | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 312948004 | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| text |
0..1 | string | Plain text representation of the concept | |||||
| detail |
ΣC | 0..* | Reference(Resource) | Supporting information found elsewhere | ||||
| evidence:karyotypeConfirmedAbmormal |
C | 0..1 | BackboneElement | Karyotype confirmed if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21. Constraints: con-2 | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
| code |
ΣC | 1..1 | CodeableConcept | Suspected chromosomal disorder or Down Syndrome: Karyotype confirmed Binding: ManifestationAndSymptomCodes (example): Codes that describe the manifestation or symptoms of a condition. Required Pattern: At least the following | ||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| coding |
1..* | Coding | Code defined by a terminology system Fixed Value: (Complex) | |||||
| id |
0..1 | string | Unique id for inter-element referencing | |||||
| extension |
0..* | Extension | Additional content defined by implementations | |||||
| system |
1..1 | uri | Identity of the terminology system Fixed Value: http://snomed.info/sct | |||||
| version |
0..1 | string | Version of the system - if relevant | |||||
| code |
1..1 | code | Symbol in syntax defined by the system Fixed Value: 442124003 | |||||
| display |
0..1 | string | Representation defined by the system | |||||
| userSelected |
0..1 | boolean | If this coding was chosen directly by the user | |||||
| text |
0..1 | string | Plain text representation of the concept | |||||
| detail |
ΣC | 0..* | Reference(Resource) | Supporting information found elsewhere | ||||
| note |
0..* | Annotation | Additional information about the Condition | |||||
| Documentation for this format | ||||||||
| Path | Conformance | ValueSet / Code | URI | |||
| Condition.language | preferred | CommonLanguageshttp://hl7.org/fhir/ValueSet/languagesFrom the FHIR Standard
| ||||
| Condition.clinicalStatus | required | ConditionClinicalStatusCodeshttp://hl7.org/fhir/ValueSet/condition-clinicalFrom the FHIR Standard | ||||
| Condition.verificationStatus | required | ConditionVerificationStatushttp://hl7.org/fhir/ValueSet/condition-ver-statusFrom the FHIR Standard | ||||
| Condition.category | extensible | ConditionCategoryCodeshttp://hl7.org/fhir/ValueSet/condition-categoryFrom the FHIR Standard | ||||
| Condition.category:us-core | required | USCoreProblemOrHealthConcernhttp://hl7.org/fhir/us/core/ValueSet/us-core-problem-or-health-concern | ||||
| Condition.category:sdoh | extensible | Pattern Value: sdohhttp://hl7.org/fhir/ValueSet/condition-categoryFrom the FHIR Standard | ||||
| Condition.category:requiredCategory | extensible | Pattern Value: LOINC Code 73780-9http://hl7.org/fhir/ValueSet/condition-categoryFrom the FHIR Standard | ||||
| Condition.severity | preferred | Condition/DiagnosisSeverityhttp://hl7.org/fhir/ValueSet/condition-severityFrom the FHIR Standard | ||||
| Condition.code | required | NewbornCongenitalAnomaliesVShttp://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomaliesFrom this IG | ||||
| Condition.bodySite | example | SNOMEDCTBodyStructureshttp://hl7.org/fhir/ValueSet/body-siteFrom the FHIR Standard | ||||
| Condition.stage.summary | example | ConditionStagehttp://hl7.org/fhir/ValueSet/condition-stageFrom the FHIR Standard | ||||
| Condition.stage.type | example | ConditionStageTypehttp://hl7.org/fhir/ValueSet/condition-stage-typeFrom the FHIR Standard | ||||
| Condition.evidence.code | example | ManifestationAndSymptomCodeshttp://hl7.org/fhir/ValueSet/manifestation-or-symptomFrom the FHIR Standard | ||||
| Condition.evidence:karyotypePending.code | example | Pattern Value: SNOMED-CT Code 312948004http://hl7.org/fhir/ValueSet/manifestation-or-symptomFrom the FHIR Standard | ||||
| Condition.evidence:karyotypeConfirmedAbmormal.code | example | Pattern Value: SNOMED-CT Code 442124003http://hl7.org/fhir/ValueSet/manifestation-or-symptomFrom the FHIR Standard |
| Id | Grade | Path(s) | Details | Requirements |
| con-1 | error | Condition.stage | Stage SHALL have summary or assessment : summary.exists() or assessment.exists() | |
| con-2 | error | Condition.evidence, Condition.evidence:karyotypePending, Condition.evidence:karyotypeConfirmedAbmormal | evidence SHALL have code or details : code.exists() or detail.exists() | |
| con-3 | best practice | Condition | Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item : clinicalStatus.exists() or verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code = 'entered-in-error').exists() or category.select($this='problem-list-item').empty() | |
| con-4 | error | Condition | If condition is abated, then clinicalStatus must be either inactive, resolved, or remission : abatement.empty() or clinicalStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-clinical' and (code='resolved' or code='remission' or code='inactive')).exists() | |
| con-5 | error | Condition | Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error : verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code='entered-in-error').empty() or clinicalStatus.empty() | |
| dom-2 | error | Condition | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
| dom-3 | error | Condition | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
| dom-4 | error | Condition | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
| dom-5 | error | Condition | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
| dom-6 | best practice | Condition | A resource should have narrative for robust management : text.`div`.exists() | |
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() |
This structure is derived from USCoreConditionProblemsHealthConcernsProfile
Summary
Mandatory: 1 element(2 nested mandatory elements)
Structures
This structure refers to these other structures:
Slices
This structure defines the following Slices:
Other representations of profile: CSV, Excel, Schematron
IG © 2023+ HL7 International / Public Health. Package hl7.fhir.us.bfdr#2.0.0 based on FHIR 4.0.1. Generated 2025-08-06
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