Measurements and simple assertions made about a patient, device or other subject.

Used for simple observations such as device measurements, laboratory atomic results, vital signs, height, weight, smoking status, comments, etc. Other resources are used to provide context for observations such as laboratory reports, etc.

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.

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 its narrative along with other profiles, value sets, etc.

These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, nor can they have their own independent transaction scope. This is allowed to be a Parameters resource if and only if it is referenced by a resource that provides context/meaning.

This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags in their meta elements, but SHALL NOT have security labels. Contained resources may be a resource type defined in the FHIR specification, or an additional resource.

Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.

For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings.

Record details about the anatomical location of a specimen or body part. This resource may be used when a coded concept does not provide the necessary detail needed for the use case.

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 managable, 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).

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.

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.

The status of the result value.

This element is labeled as a modifier because the status contains codes that mark the resource as not currently valid.

Codes providing the status of an observation.

Need to track the status of individual results. Some results are finalized before the whole report is finalized.

A code that classifies the general type of observation being made.

In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

Codes for high level observation categories.

Used for filtering what observations are retrieved and displayed.

A code that classifies the general type of observation being made.

In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

Codes for high level observation categories.

Used for filtering what observations are retrieved and displayed.

A reference to a code defined by a terminology system.

Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

Allows for alternative encodings within a code system, and translations to other code systems.

A code that classifies the general type of observation being made.

In addition to the required category valueset, this element allows various categorization schemes based on the owner’s definition of the category and effectively multiple categories can be used at once. The level of granularity is defined by the category concepts in the value set.

Codes for high level observation categories.

Used for filtering what observations are retrieved and displayed.

A reference to a code defined by a terminology system.

Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

Allows for alternative encodings within a code system, and translations to other code systems.

Describes what was observed. Sometimes this is called the observation "name".

All code-value and, if present, component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The actual focus of an observation when it is not the subject of record representing something or someone associated with the patient such as a spouse, parent, fetus, or donor. For example, fetus observations in a mother's record. The focus of an observation could also be an existing condition, an intervention, the subject's diet, another observation of the subject, or a body structure such as tumor or implanted device. An example use case would be using the Observation resource to capture whether the mother is trained to change her child's tracheostomy tube. In this example, the child is the patient of record and the mother is the focus. As another use case,

a caregiver (RelatedPerson) has back strain and is unable to provide ADL support to a patient (Subject).

Examples demonstrating the use of subject and focus in an Observation:

• A parent is trained to change their child's tracheostomy tube. The child is the subject, and the parent is the focus.

• A fetal heart rate recorded in a mother's record. The mother is the subject, and the fetus is the focus.

• Features of a body structure, such as a tumor. The patient is the subject, and the specific body structure is the focus.

• Metrics captured from a medical device. The patient-attached device is the subject, the specific device metric is the focus, and the observing device itself is referenced in .device.

The information determined as a result of making the observation, if the information has a simple value.

• An observation may have:
  1. a single value here
  2. both a value and a set of related or component values
  3. only a set of related or component values.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

The presence or absence of the variant described in the components. If not searching for specific variations and merely reporting what's found, the profile's value should be set to 'Present'.

See here for usage guidance.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

Provides a reason why the expected value in the element Observation.value[x] is missing.

Null or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be "detected", "not detected", "inconclusive", or "specimen unsatisfactory".

The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code "error" could be used when the measurement was not completed.

Codes specifying why the result (Observation.value[x]) is missing.

For many results it is necessary to handle exceptional values in measurements.

Indicates the mechanism used to perform the observation.

Only used if not implicit in code for Observation.code.

In some cases, method can impact results and is thus used for determining whether results can be compared or determining significance of results.

The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.

All the reference choices that are listed in this element can represent clinical observations and other measurements that may be the source for a derived value. The most common reference will be another Observation. For a discussion on the ways Observations can assembled in groups together, see Notes below.

Some observations have multiple component observations. These component observations are expressed as separate code value pairs that share the same attributes. Examples include systolic and diastolic component observations for blood pressure measurement and multiple component observations for genetics observations.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

Concise and clinically contextualized summary conclusion (interpretation/impression) of the observation

An example would be the interpretative information, typically canned, about a variant identified in the patient.

Need to be able to provide a conclusion that is not lost among the basic result data.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The gene(s) on which the variant is located.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

The relevant chromosomal region. The combination of numbers and letters provide a genetic 'address'.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

The reference genome/assembly used in this analysis.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

An indicator, enumerated in humans by numbers 1-22, X, and Y, representing the chromosome on which the finding is located.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

Description of the genomic (gDNA) sequence change using a valid HGVS-formatted string.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

Fully describes a variant with a single code. Typically a large variant such as a mosaic, abnormal chromosome numbers, etc.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

Binding not yet defined

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

ID of the genomic reference sequence, which includes transcribed and non transcribed stretches

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

Multiple bindings acceptable (NCBI or LRG)

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

ID of the protein reference sequence, which includes transcribed and non transcribed stretches. It covers the entire protein described.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

Multiple bindings acceptable (NCBI or LRG)

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

NCBI's RefSeq ('NM_...'), Ensembl ('ENST...'), and LRG ('LRG...' plus 't1' to indicate transcript)

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

Multiple bindings acceptable (NCBI or LRG)

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

The exact integer-based genomic coordinates of the start and end of the variant region.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

The genomic coordinates of the narrowest genomic range in which the variant might reside. Used when the exact boundaries of the variant are not clear.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

The genomic coordinates of the widest genomic range in which the variant might reside. Used when the exact boundaries of the variant are not clear.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

These are different ways of identifying nucleotides or amino acids within a sequence. In the 1-based system, the first unit of the polymer (e.g. the first nucleotide) is counted as number 1. In the 0-based system, the number 0 designates the location before the first nucleotide. Different databases and file types may use different systems.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

Reference values ('normal') examined within the Reference Sequence.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

Type of DNA change observed. Convenience property for variants with exact breakpoints, required otherwise.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

Concepts in sequence ontology under SO:0002072

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".

All code-value and component.code-component.value pairs need to be taken into account to correctly understand the meaning of the observation.

Codes identifying names of simple observations.

Knowing what kind of observation is being made is essential to understanding the observation.

The information determined as a result of making the observation, if the information has a simple value.

Used when observation has a set of component observations:

• An observation may have both a value (e.g. an Apgar score) and component observations (the observations from which the Apgar score was derived).
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• If a value is present, the datatype for this element should be determined by the code.
• CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the code defines a coded value.
• Attachment is used if the observation result value is a binary file such as an image. If the observation result value is derived from the binary file (for example 'X' detected and here is the the proof in this image), the binary file may be directly represented using DocumentReference and referenced by derivedFrom.
• The usage of valueReference is restricted to the MolecularSequence resource when used as a definitional resource, not as a patient-specific finding. .
• For additional guidance, see the Notes section below.

An observation exists to have a value, though it might not if it is in error, or if it represents a group of observations.

The relative frequency of the allele at a given locus in the sample.

For a discussion on the ways Observations can be assembled in groups together see Notes below.

Component observations share the same attributes in the Observation resource as the primary observation and are always treated a part of a single observation (they are not separable). However, reference range, dataAbsentReason, and interpretation can differ between the components and are not inherited; these should be provided if appropriate.

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 managable, 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).

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.

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.

Describes what was observed. Sometimes this is called the observation "code".