.Data
..69548-6
Cardinality: 1..1
CodeableConcept
Describes what was observed. Sometimes this is called the observation "name".

value must match LOINC: 69548-6("Genetic variant assessment") from LOINC Codes (>1000 codes)
..Component results
Cardinality: 0..1
Group
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.

...Type of component observation (code / type)
Cardinality: 1..1
CodeableConcept
Describes what was observed. Sometimes this is called the observation "code".

value is bound to LOINC Codes (>1000 codes)
...Actual component result
Cardinality: 0..1
CodeableConcept
The information determined as a result of making the observation, if the information has a simple value.

..Component results
Cardinality: 0..1
Group
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.

...Type of component observation (code / type)
Cardinality: 1..1
CodeableConcept
Describes what was observed. Sometimes this is called the observation "code".

value is bound to LOINC Codes (>1000 codes)
...Actual component result
Cardinality: 0..1
CodeableConcept
The information determined as a result of making the observation, if the information has a simple value.

..Component results
Cardinality: 0..1
Group
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.

...Type of component observation (code / type)
Cardinality: 1..1
CodeableConcept
Describes what was observed. Sometimes this is called the observation "code".

value is bound to LOINC Codes (>1000 codes)
...Actual component result
Cardinality: 0..1
CodeableConcept
The information determined as a result of making the observation, if the information has a simple value.

..Component results
Cardinality: 0..1
Group
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.

...Type of component observation (code / type)
Cardinality: 1..1
CodeableConcept
Describes what was observed. Sometimes this is called the observation "code".

value is bound to LOINC Codes (>1000 codes)
...Actual component result
Cardinality: 0..1
CodeableConcept
The information determined as a result of making the observation, if the information has a simple value.

..Component results
Cardinality: 0..1
Group
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.

...Type of component observation (code / type)
Cardinality: 1..1
CodeableConcept
Describes what was observed. Sometimes this is called the observation "code".

value is bound to LOINC Codes (>1000 codes)
...Actual component result
Cardinality: 0..1
CodeableConcept
The information determined as a result of making the observation, if the information has a simple value.

..Component results
Cardinality: 0..1
Group
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.

...Type of component observation (code / type)
Cardinality: 1..1
CodeableConcept
Describes what was observed. Sometimes this is called the observation "code".

value is bound to LOINC Codes (>1000 codes)
...Actual component result
Cardinality: 0..1
CodeableConcept
The information determined as a result of making the observation, if the information has a simple value.

..Component results
Cardinality: 0..1
Group
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.

...Type of component observation (code / type)
Cardinality: 1..1
CodeableConcept
Describes what was observed. Sometimes this is called the observation "code".

value is bound to LOINC Codes (>1000 codes)
...Actual component result
Cardinality: 0..1
CodeableConcept
The information determined as a result of making the observation, if the information has a simple value.

value is bound to Reference Genome Value Set. Codes:
  • LOINC: LA14032-9 "NCBI Build 34"
  • LOINC: LA14029-5 "GRCh37"
  • LOINC: LA14030-3 "NCBI Build 36.1"
  • LOINC: LA14031-1 "NCBI Build 35"
  • LOINC: LA26806-2 "GRCh38"
..Component results
Cardinality: 0..1
Group
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.

...Type of component observation (code / type)
Cardinality: 1..1
CodeableConcept
Describes what was observed. Sometimes this is called the observation "code".

value is bound to LOINC Codes (>1000 codes)
...Actual component result
Cardinality: 0..1
CodeableConcept
The information determined as a result of making the observation, if the information has a simple value.

..Component results
Cardinality: 0..1
Group
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.

...Type of component observation (code / type)
Cardinality: 1..1
CodeableConcept
Describes what was observed. Sometimes this is called the observation "code".

value is bound to LOINC Codes (>1000 codes)
...Actual component result
Cardinality: 0..1
CodeableConcept
The information determined as a result of making the observation, if the information has a simple value.

value is bound to Zygosity Value Set (7 codes)
..Component results
Cardinality: 0..1
Group
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.

...Type of component observation (code / type)
Cardinality: 1..1
CodeableConcept
Describes what was observed. Sometimes this is called the observation "code".

value is bound to LOINC Codes (>1000 codes)
...Actual component result
Cardinality: 0..1
CodeableConcept
The information determined as a result of making the observation, if the information has a simple value.

value is bound to Genomic Source Class Value Set (8 codes)
..Component results
Cardinality: 0..1
Group
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.

...Type of component observation (code / type)
Cardinality: 1..1
CodeableConcept
Describes what was observed. Sometimes this is called the observation "code".

value is bound to LOINC Codes (>1000 codes)
...Actual component result
Cardinality: 0..1
CodeableConcept
The information determined as a result of making the observation, if the information has a simple value.

value is bound to DNA Change Type Value Set (7 codes)
.Protocol
..registered | preliminary | final | amended +
Cardinality: 1..1
code
The status of the result value.

value is fixed to final from ObservationStatus (8 codes)
..Sequencing | SNP array | PCR | Computational analysis | ...
Cardinality: 0..1
CodeableConcept
Indicates the mechanism used to perform the observation.

value is bound to LOINCAnswerListLL4048_6 (23 codes)
coding is bound to Structural Variant Method Value Set (10 codes)
.Context
..Who and/or what the observation is about
Cardinality: 1..1
Reference
The patient, or group of patients, location, or device this observation is about and into whose record the observation is placed. If the actual focus of the observation is different from the subject (or a sample of, part, or region of the subject), the focus element or the code itself specifies the actual focus of the observation.

value must point to a RareLink IPS Patient

doco Documentation for this format