Birth And Fetal Death (BFDR) FHIR Implementation Guide
2.0.0 - STU2 United States of America 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: Condition - Congenital Anomaly of Newborn

Official URL: http://hl7.org/fhir/us/bfdr/StructureDefinition/Condition-congenital-anomaly-of-newborn Version: 2.0.0
Active as of 2024-10-15 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.

IJE Mapping

Natality
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

Form Mapping

Form Mapping
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

Usage:

Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots and how the different presentations work.

This structure is derived from USCoreConditionProblemsHealthConcernsProfile

NameFlagsCard.TypeDescription & Constraintsdoco
.. 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?
.... 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

doco Documentation for this format

Terminology Bindings (Differential)

PathConformanceValueSetURI
Condition.coderequiredNewbornCongenitalAnomaliesVS
http://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomalies
from this IG
NameFlagsCard.TypeDescription & Constraintsdoco
.. 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.
con-3: Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item
con-4: If condition is abated, then clinicalStatus must be either inactive, resolved, or remission
con-5: Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension Content/Rules for all slices
.... 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
... 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
..... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/us/core/CodeSystem/us-core-tags
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: sdoh
.... 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
..... 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 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
... abatement[x] SC 0..1 When in resolution/remission
.... abatementDateTime dateTime
... 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
con-2: evidence SHALL have code or details
.... 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.
con-2: evidence SHALL have code or details
..... 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
...... 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 C 0..1 BackboneElement Karyotype confirmed if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21.
con-2: evidence SHALL have code or details
..... 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
...... 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

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Condition.clinicalStatusrequiredConditionClinicalStatusCodes
http://hl7.org/fhir/ValueSet/condition-clinical
from the FHIR Standard
Condition.verificationStatusrequiredConditionVerificationStatus
http://hl7.org/fhir/ValueSet/condition-ver-status
from the FHIR Standard
Condition.categoryextensibleConditionCategoryCodes
http://hl7.org/fhir/ValueSet/condition-category
from the FHIR Standard
Condition.category:us-corerequiredUSCoreProblemOrHealthConcern
http://hl7.org/fhir/us/core/ValueSet/us-core-problem-or-health-concern
Condition.category:sdohextensiblePattern: sdoh
http://hl7.org/fhir/ValueSet/condition-category
from the FHIR Standard
Condition.category:requiredCategoryextensiblePattern: LOINC Code 73780-9
http://hl7.org/fhir/ValueSet/condition-category
from the FHIR Standard
Condition.coderequiredNewbornCongenitalAnomaliesVS
http://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomalies
from this IG
Condition.evidence:karyotypePending.codeexamplePattern: SNOMED-CT Code 312948004
http://hl7.org/fhir/ValueSet/manifestation-or-symptom
from the FHIR Standard
Condition.evidence:karyotypeConfirmedAbmormal.codeexamplePattern: SNOMED-CT Code 442124003
http://hl7.org/fhir/ValueSet/manifestation-or-symptom
from the FHIR Standard
NameFlagsCard.TypeDescription & Constraintsdoco
.. 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.
con-3: Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item
con-4: If condition is abated, then clinicalStatus must be either inactive, resolved, or remission
con-5: Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error
... 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
... text 0..1 Narrative Text summary of the resource, for human interpretation
... contained 0..* Resource Contained, inline Resources
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... 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
con-1: Stage SHALL have summary or assessment
.... 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
con-2: evidence SHALL have code or details
.... 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.
con-2: evidence SHALL have code or details
..... 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.
con-2: evidence SHALL have code or details
..... 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

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Condition.languagepreferredCommonLanguages
Additional Bindings Purpose
AllLanguages Max Binding
http://hl7.org/fhir/ValueSet/languages
from the FHIR Standard
Condition.clinicalStatusrequiredConditionClinicalStatusCodes
http://hl7.org/fhir/ValueSet/condition-clinical
from the FHIR Standard
Condition.verificationStatusrequiredConditionVerificationStatus
http://hl7.org/fhir/ValueSet/condition-ver-status
from the FHIR Standard
Condition.categoryextensibleConditionCategoryCodes
http://hl7.org/fhir/ValueSet/condition-category
from the FHIR Standard
Condition.category:us-corerequiredUSCoreProblemOrHealthConcern
http://hl7.org/fhir/us/core/ValueSet/us-core-problem-or-health-concern
Condition.category:sdohextensiblePattern: sdoh
http://hl7.org/fhir/ValueSet/condition-category
from the FHIR Standard
Condition.category:requiredCategoryextensiblePattern: LOINC Code 73780-9
http://hl7.org/fhir/ValueSet/condition-category
from the FHIR Standard
Condition.severitypreferredCondition/DiagnosisSeverity
http://hl7.org/fhir/ValueSet/condition-severity
from the FHIR Standard
Condition.coderequiredNewbornCongenitalAnomaliesVS
http://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomalies
from this IG
Condition.bodySiteexampleSNOMEDCTBodyStructures
http://hl7.org/fhir/ValueSet/body-site
from the FHIR Standard
Condition.stage.summaryexampleConditionStage
http://hl7.org/fhir/ValueSet/condition-stage
from the FHIR Standard
Condition.stage.typeexampleConditionStageType
http://hl7.org/fhir/ValueSet/condition-stage-type
from the FHIR Standard
Condition.evidence.codeexampleManifestationAndSymptomCodes
http://hl7.org/fhir/ValueSet/manifestation-or-symptom
from the FHIR Standard
Condition.evidence:karyotypePending.codeexamplePattern: SNOMED-CT Code 312948004
http://hl7.org/fhir/ValueSet/manifestation-or-symptom
from the FHIR Standard
Condition.evidence:karyotypeConfirmedAbmormal.codeexamplePattern: SNOMED-CT Code 442124003
http://hl7.org/fhir/ValueSet/manifestation-or-symptom
from the FHIR Standard

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:

  • The element 1 is sliced based on the value of Condition.category
  • The element 1 is sliced based on the value of Condition.evidence

Differential View

This structure is derived from USCoreConditionProblemsHealthConcernsProfile

NameFlagsCard.TypeDescription & Constraintsdoco
.. 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?
.... 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

doco Documentation for this format

Terminology Bindings (Differential)

PathConformanceValueSetURI
Condition.coderequiredNewbornCongenitalAnomaliesVS
http://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomalies
from this IG

Key Elements View

NameFlagsCard.TypeDescription & Constraintsdoco
.. 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.
con-3: Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item
con-4: If condition is abated, then clinicalStatus must be either inactive, resolved, or remission
con-5: Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension Content/Rules for all slices
.... 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
... 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
..... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/us/core/CodeSystem/us-core-tags
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: sdoh
.... 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
..... 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 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
... abatement[x] SC 0..1 When in resolution/remission
.... abatementDateTime dateTime
... 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
con-2: evidence SHALL have code or details
.... 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.
con-2: evidence SHALL have code or details
..... 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
...... 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 C 0..1 BackboneElement Karyotype confirmed if there is a diagnosis of suspected chromosomal disorder or Down syndrome, Trisomy 21.
con-2: evidence SHALL have code or details
..... 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
...... 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

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Condition.clinicalStatusrequiredConditionClinicalStatusCodes
http://hl7.org/fhir/ValueSet/condition-clinical
from the FHIR Standard
Condition.verificationStatusrequiredConditionVerificationStatus
http://hl7.org/fhir/ValueSet/condition-ver-status
from the FHIR Standard
Condition.categoryextensibleConditionCategoryCodes
http://hl7.org/fhir/ValueSet/condition-category
from the FHIR Standard
Condition.category:us-corerequiredUSCoreProblemOrHealthConcern
http://hl7.org/fhir/us/core/ValueSet/us-core-problem-or-health-concern
Condition.category:sdohextensiblePattern: sdoh
http://hl7.org/fhir/ValueSet/condition-category
from the FHIR Standard
Condition.category:requiredCategoryextensiblePattern: LOINC Code 73780-9
http://hl7.org/fhir/ValueSet/condition-category
from the FHIR Standard
Condition.coderequiredNewbornCongenitalAnomaliesVS
http://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomalies
from this IG
Condition.evidence:karyotypePending.codeexamplePattern: SNOMED-CT Code 312948004
http://hl7.org/fhir/ValueSet/manifestation-or-symptom
from the FHIR Standard
Condition.evidence:karyotypeConfirmedAbmormal.codeexamplePattern: SNOMED-CT Code 442124003
http://hl7.org/fhir/ValueSet/manifestation-or-symptom
from the FHIR Standard

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. 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.
con-3: Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item
con-4: If condition is abated, then clinicalStatus must be either inactive, resolved, or remission
con-5: Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error
... 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
... text 0..1 Narrative Text summary of the resource, for human interpretation
... contained 0..* Resource Contained, inline Resources
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... 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
con-1: Stage SHALL have summary or assessment
.... 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
con-2: evidence SHALL have code or details
.... 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.
con-2: evidence SHALL have code or details
..... 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.
con-2: evidence SHALL have code or details
..... 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

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Condition.languagepreferredCommonLanguages
Additional Bindings Purpose
AllLanguages Max Binding
http://hl7.org/fhir/ValueSet/languages
from the FHIR Standard
Condition.clinicalStatusrequiredConditionClinicalStatusCodes
http://hl7.org/fhir/ValueSet/condition-clinical
from the FHIR Standard
Condition.verificationStatusrequiredConditionVerificationStatus
http://hl7.org/fhir/ValueSet/condition-ver-status
from the FHIR Standard
Condition.categoryextensibleConditionCategoryCodes
http://hl7.org/fhir/ValueSet/condition-category
from the FHIR Standard
Condition.category:us-corerequiredUSCoreProblemOrHealthConcern
http://hl7.org/fhir/us/core/ValueSet/us-core-problem-or-health-concern
Condition.category:sdohextensiblePattern: sdoh
http://hl7.org/fhir/ValueSet/condition-category
from the FHIR Standard
Condition.category:requiredCategoryextensiblePattern: LOINC Code 73780-9
http://hl7.org/fhir/ValueSet/condition-category
from the FHIR Standard
Condition.severitypreferredCondition/DiagnosisSeverity
http://hl7.org/fhir/ValueSet/condition-severity
from the FHIR Standard
Condition.coderequiredNewbornCongenitalAnomaliesVS
http://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomalies
from this IG
Condition.bodySiteexampleSNOMEDCTBodyStructures
http://hl7.org/fhir/ValueSet/body-site
from the FHIR Standard
Condition.stage.summaryexampleConditionStage
http://hl7.org/fhir/ValueSet/condition-stage
from the FHIR Standard
Condition.stage.typeexampleConditionStageType
http://hl7.org/fhir/ValueSet/condition-stage-type
from the FHIR Standard
Condition.evidence.codeexampleManifestationAndSymptomCodes
http://hl7.org/fhir/ValueSet/manifestation-or-symptom
from the FHIR Standard
Condition.evidence:karyotypePending.codeexamplePattern: SNOMED-CT Code 312948004
http://hl7.org/fhir/ValueSet/manifestation-or-symptom
from the FHIR Standard
Condition.evidence:karyotypeConfirmedAbmormal.codeexamplePattern: SNOMED-CT Code 442124003
http://hl7.org/fhir/ValueSet/manifestation-or-symptom
from the FHIR Standard

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:

  • The element 1 is sliced based on the value of Condition.category
  • The element 1 is sliced based on the value of Condition.evidence

 

Other representations of profile: CSV, Excel, Schematron