Birth And Fetal Death (BFDR) FHIR Implementation Guide
2.0.0 - STU2  flag

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

Resource Profile: ConditionCongenitalAnomalyOfNewborn - Detailed Descriptions

Active as of 2025-02-19

Definitions for the Condition-congenital-anomaly-of-newborn resource profile.

Guidance on how to interpret the contents of this table can be found here

0. Condition
Definition

-


A clinical condition, problem, diagnosis, or other event, situation, issue, or clinical concept that has risen to a level of concern.

ShortInformation on whether the infant suffered from one or more of a list of known malformations diagnosed prenatally or after delivery.Detailed information about conditions, problems or diagnoses
Comments

-

Control0..*
Is Modifierfalse
Must Supportfalse
Summaryfalse
Invariantscon-3: 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($this='problem-list-item').empty())
con-4: If condition is abated, then clinicalStatus must be either inactive, resolved, or remission (abatement.empty() or clinicalStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-clinical' and (code='resolved' or code='remission' or code='inactive')).exists())
con-5: Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error (verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code='entered-in-error').empty() or clinicalStatus.empty())
dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources (contained.contained.empty())
dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource (contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty())
dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated (contained.meta.versionId.empty() and contained.meta.lastUpdated.empty())
dom-5: If a resource is contained in another resource, it SHALL NOT have a security label (contained.meta.security.empty())
dom-6: A resource should have narrative for robust management (text.`div`.exists())
con-3: Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item (clinicalStatus.exists() or verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code = 'entered-in-error').exists() or category.select($this='problem-list-item').empty())
con-4: 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: 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())
2. Condition.implicitRules
Definition

A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc.

ShortA set of rules under which this content was created
Comments

Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.

Control0..1
Typeuri
Is Modifiertrue because This element is labeled as a modifier because the implicit rules may provide additional knowledge about the resource that modifies it's meaning or interpretation
Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
Summarytrue
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
4. Condition.extension:assertedDate
Slice NameassertedDate
Definition

The date on which the existence of the Condition was first asserted or acknowledged.

ShortDate the condition was first asserted
Comments

The assertedDate is in the context of the recording practitioner and might not be the same as the recordedDate.

Control0..1
This element is affected by the following invariants: ele-1
TypeExtension(Condition Asserted Date) (Extension Type: dateTime)
Is Modifierfalse
Must Supporttrue
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
6. Condition.modifierExtension
Definition

May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

ShortExtensions that cannot be ignored
Comments

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Control0..*
TypeExtension
Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them
Summaryfalse
Requirements

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Alternate Namesextensions, user content
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
8. Condition.clinicalStatus
Definition

The clinical status of the condition.

Shortactive | recurrence | relapse | inactive | remission | resolved
Comments

The data type is CodeableConcept because clinicalStatus has some clinical judgment involved, such that there might need to be more specificity than the required FHIR value set allows. For example, a SNOMED coding might allow for additional specificity.

Control0..1
This element is affected by the following invariants: con-3, con-4, con-5
BindingThe codes SHALL be taken from ConditionClinicalStatusCodeshttp://hl7.org/fhir/ValueSet/condition-clinical|4.0.1
(required to http://hl7.org/fhir/ValueSet/condition-clinical)
TypeCodeableConcept
Is Modifiertrue because This element is labeled as a modifier because the status contains codes that mark the condition as no longer active.
Must Supporttrue
Summarytrue
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
10. Condition.verificationStatus
Definition

The verification status to support the clinical status of the condition.

Shortunconfirmed | provisional | differential | confirmed | refuted | entered-in-error
Comments

verificationStatus is not required. For example, when a patient has abdominal pain in the ED, there is not likely going to be a verification status. The data type is CodeableConcept because verificationStatus has some clinical judgment involved, such that there might need to be more specificity than the required FHIR value set allows. For example, a SNOMED coding might allow for additional specificity.

Control0..1
This element is affected by the following invariants: con-3, con-5
BindingThe codes SHALL be taken from ConditionVerificationStatushttp://hl7.org/fhir/ValueSet/condition-ver-status|4.0.1
(required to http://hl7.org/fhir/ValueSet/condition-ver-status)
TypeCodeableConcept
Is Modifiertrue because This element is labeled as a modifier because the status contains the code refuted and entered-in-error that mark the Condition as not currently valid.
Must Supporttrue
Summarytrue
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
12. Condition.category
Definition

A category assigned to the condition.

Shortcategory codesproblem-list-item | encounter-diagnosis
Comments

The categorization is often highly contextual and may appear poorly differentiated or not very useful in other contexts.

Control20..*
BindingUnless not suitable, these codes SHALL be taken from ConditionCategoryCodeshttp://hl7.org/fhir/ValueSet/condition-category
(extensible to http://hl7.org/fhir/ValueSet/condition-category)

A category assigned to the condition.

TypeCodeableConcept
Is Modifierfalse
Must Supporttrue
Summaryfalse
Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
SlicingThis element introduces a set of slices on Condition.category. The slices areUnordered and Open, and can be differentiated using the following discriminators:
  • pattern @ $this
  • 14. Condition.category:us-core
    Slice Nameus-core
    Definition

    A category assigned to the condition.

    Shortproblem-list-item | health-concernproblem-list-item | encounter-diagnosis
    Comments

    The categorization is often highly contextual and may appear poorly differentiated or not very useful in other contexts.

    Control10..*
    BindingThe codes SHALL be taken from Unless not suitable, these codes SHALL be taken from US Core Problem or Health Concernhttp://hl7.org/fhir/ValueSet/condition-category
    (required to http://hl7.org/fhir/us/core/ValueSet/us-core-problem-or-health-concern)
    TypeCodeableConcept
    Is Modifierfalse
    Must Supporttrue
    Summaryfalse
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    16. Condition.category:sdoh
    Slice Namesdoh
    Definition

    A category assigned to the condition.

    Shortproblem-list-item | encounter-diagnosis
    Comments

    The categorization is often highly contextual and may appear poorly differentiated or not very useful in other contexts.

    Control0..1*
    BindingUnless not suitable, these codes SHALL be taken from ConditionCategoryCodeshttp://hl7.org/fhir/ValueSet/condition-category
    (extensible to http://hl7.org/fhir/ValueSet/condition-category)

    A category assigned to the condition.

    TypeCodeableConcept
    Is Modifierfalse
    Must Supporttrue
    Summaryfalse
    Pattern Value{
      "coding" : [{
        "system" : "http://hl7.org/fhir/us/core/CodeSystem/us-core-tags",
        "code" : "sdoh"
      }]
    }
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    18. Condition.category:requiredCategory
    Slice NamerequiredCategory
    Definition

    A category assigned to the condition.

    ShortCongenital anomalies of the newborn [US Standard Certificate of Live Birth]problem-list-item | encounter-diagnosis
    Comments

    The categorization is often highly contextual and may appear poorly differentiated or not very useful in other contexts.

    Control10..1*
    BindingUnless not suitable, these codes SHALL be taken from ConditionCategoryCodeshttp://hl7.org/fhir/ValueSet/condition-category
    (extensible to http://hl7.org/fhir/ValueSet/condition-category)

    A category assigned to the condition.

    TypeCodeableConcept
    Is Modifierfalse
    Must Supporttrue
    Summaryfalse
    Pattern Value{
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "73780-9"
      }]
    }
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    20. Condition.code
    Definition

    Identification of the condition, problem or diagnosis.

    ShortThe value set contain the list of values use to specify malformations of the newborn diagnosed prenatally or after delivery.Identification of the condition, problem or diagnosis
    Control10..1
    BindingThe codes SHALL be taken from For example codes, see Newborn Congenital Anomalieshttp://hl7.org/fhir/ValueSet/condition-code
    (required to http://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomalies)

    Newborn Congenital Anomalies (NCHS)


    Identification of the condition or diagnosis.

    TypeCodeableConcept
    Is Modifierfalse
    Must Supporttrue
    Summarytrue
    Requirements

    0..1 to account for primarily narrative only resources.

    Alternate Namestype
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    22. Condition.subject
    Definition

    Indicates the patient or group who the condition record is associated with.

    ShortWho has the condition?
    Control1..1
    TypeReference(Patient - Child Vital Records, Patient, Group)
    Is Modifierfalse
    Must Supporttrue
    Summarytrue
    Requirements

    Group is typically used for veterinary or public health use cases.

    Alternate Namespatient
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    24. Condition.onset[x]
    Definition

    Estimated or actual date or date-time the condition began, in the opinion of the clinician.

    ShortEstimated or actual date, date-time, or age
    Comments

    Age is generally used when the patient reports an age at which the Condition began to occur.

    Control0..1
    TypeChoice of: dateTime, Age, Period, Range, string
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    Is Modifierfalse
    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
    Must Supporttrue
    Must Support TypesdateTime
    Summarytrue
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    26. Condition.abatement[x]
    Definition

    The date or estimated date that the condition resolved or went into remission. This is called "abatement" because of the many overloaded connotations associated with "remission" or "resolution" - Conditions are never really resolved, but they can abate.

    ShortWhen in resolution/remission
    Comments

    There is no explicit distinction between resolution and remission because in many cases the distinction is not clear. Age is generally used when the patient reports an age at which the Condition abated. If there is no abatement element, it is unknown whether the condition has resolved or entered remission; applications and users should generally assume that the condition is still valid. When abatementString exists, it implies the condition is abated.

    Control0..1
    This element is affected by the following invariants: con-4
    TypeChoice of: dateTime, Age, Period, Range, string
    [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
    Is Modifierfalse
    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
    Must Supporttrue
    Must Support TypesdateTime
    Summaryfalse
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    28. Condition.recordedDate
    Definition

    The recordedDate represents when this particular Condition record was created in the system, which is often a system-generated date.

    ShortDate record was first recorded
    Control0..1
    TypedateTime
    Is Modifierfalse
    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
    Must Supporttrue
    Summarytrue
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    30. Condition.evidence
    Definition

    Supporting evidence / manifestations that are the basis of the Condition's verification status, such as evidence that confirmed or refuted the condition.

    ShortIn 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.Supporting evidence
    Comments

    The evidence may be a simple list of coded symptoms/manifestations, or references to observations or formal assessments, or both.

    Control0..1*
    TypeBackboneElement
    Is Modifierfalse
    Summaryfalse
    Invariantscon-2: evidence SHALL have code or details (code.exists() or detail.exists())
    ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    con-2: evidence SHALL have code or details (code.exists() or detail.exists())
    SlicingThis element introduces a set of slices on Condition.evidence. The slices areUnordered and Open, and can be differentiated using the following discriminators:
    • value @ code
    • 32. Condition.evidence.modifierExtension
      Definition

      May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

      Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

      ShortExtensions that cannot be ignored even if unrecognized
      Comments

      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

      Control0..*
      TypeExtension
      Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
      Summarytrue
      Requirements

      Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

      Alternate Namesextensions, user content, modifiers
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
      34. Condition.evidence:karyotypePending
      Slice NamekaryotypePending
      Definition

      Supporting evidence / manifestations that are the basis of the Condition's verification status, such as evidence that confirmed or refuted the condition.

      ShortKaryotype pending if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21.Supporting evidence
      Comments

      The evidence may be a simple list of coded symptoms/manifestations, or references to observations or formal assessments, or both.

      Control0..1*
      TypeBackboneElement
      Is Modifierfalse
      Summaryfalse
      Invariantscon-2: evidence SHALL have code or details (code.exists() or detail.exists())
      ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      con-2: evidence SHALL have code or details (code.exists() or detail.exists())
      36. Condition.evidence:karyotypePending.modifierExtension
      Definition

      May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

      Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

      ShortExtensions that cannot be ignored even if unrecognized
      Comments

      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

      Control0..*
      TypeExtension
      Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
      Summarytrue
      Requirements

      Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

      Alternate Namesextensions, user content, modifiers
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
      38. Condition.evidence:karyotypePending.code
      Definition

      A manifestation or symptom that led to the recording of this condition.

      ShortSuspected chromosomal disorder or Down Syndrome: Karyotype pendingManifestation/symptom
      Control10..1*
      This element is affected by the following invariants: con-2
      BindingFor example codes, see ManifestationAndSymptomCodeshttp://hl7.org/fhir/ValueSet/manifestation-or-symptom
      (example to http://hl7.org/fhir/ValueSet/manifestation-or-symptom)

      Codes that describe the manifestation or symptoms of a condition.

      TypeCodeableConcept
      Is Modifierfalse
      Summarytrue
      Pattern Value{
        "coding" : [{
          "system" : "http://snomed.info/sct",
          "code" : "312948004"
        }]
      }
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      40. Condition.evidence:karyotypeConfirmedAbmormal
      Slice NamekaryotypeConfirmedAbmormal
      Definition

      Supporting evidence / manifestations that are the basis of the Condition's verification status, such as evidence that confirmed or refuted the condition.

      ShortKaryotype confirmed if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21.Supporting evidence
      Comments

      The evidence may be a simple list of coded symptoms/manifestations, or references to observations or formal assessments, or both.

      Control0..1*
      TypeBackboneElement
      Is Modifierfalse
      Summaryfalse
      Invariantscon-2: evidence SHALL have code or details (code.exists() or detail.exists())
      ele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      con-2: evidence SHALL have code or details (code.exists() or detail.exists())
      42. Condition.evidence:karyotypeConfirmedAbmormal.modifierExtension
      Definition

      May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

      Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

      ShortExtensions that cannot be ignored even if unrecognized
      Comments

      There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

      Control0..*
      TypeExtension
      Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
      Summarytrue
      Requirements

      Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

      Alternate Namesextensions, user content, modifiers
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
      44. Condition.evidence:karyotypeConfirmedAbmormal.code
      Definition

      A manifestation or symptom that led to the recording of this condition.

      ShortSuspected chromosomal disorder or Down Syndrome: Karyotype confirmedManifestation/symptom
      Control10..1*
      This element is affected by the following invariants: con-2
      BindingFor example codes, see ManifestationAndSymptomCodeshttp://hl7.org/fhir/ValueSet/manifestation-or-symptom
      (example to http://hl7.org/fhir/ValueSet/manifestation-or-symptom)

      Codes that describe the manifestation or symptoms of a condition.

      TypeCodeableConcept
      Is Modifierfalse
      Summarytrue
      Pattern Value{
        "coding" : [{
          "system" : "http://snomed.info/sct",
          "code" : "442124003"
        }]
      }
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))