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SNOMED CT Reference Set Guide

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Reference Set Types

SNOMED International specifies and distributes a range of different reference set types as part of the International release of SNOMED CT. These types of reference sets have been specified to provide a foundation for the more general requirements that may arise when implementing/enabling SNOMED CT in clinical information systems.

Each reference set type is described in a machine-readable form that follows a specific reference set pattern. An overview of the different types of reference sets is provided in Appendix A: Overview of Reference Set Types and the technical specification for each of these types can be found in the Release File Specification Guide, section.

This guide will provide guidance to the usage of a selected set of reference set types. These reference set types are included in this guide, as they relate to the practical use of SNOMED CT content in clinical information systems. This includes:

  • Simple Reference Set

  • Query Specification Reference Set

  • Ordered Component Reference Set

  • Association Reference Set

  • Ordered Association Reference Set

  • Component Annotation Reference Set

  • Member Annotation Reference Set

  • Attribute Value Reference Set

  • Language Reference Set

  • Human-Readable Reference Set

For details about the general functionality of each of the reference set types included in this guide, please see the section related to each these reference sets.

Other types of reference sets, such as the and the set are important for the co-existence of SNOMED CT and other code systems, but are addressed in other guides. Some reference sets are used to hold metadata, which is used for management or maintenance purposes, such as the and the . These reference set types will not be covered in this guide.

The Simple reference set type represents an extensional definition of a subset of components. The components can be concepts, descriptions, relationships and reference sets. Therefore, the reference set contains a list of references to one or more components.

The components can be specified for inclusion or exclusion for a specified purpose. For example, the 450970008 | General Practice / Family Practice reference set| contains the concepts that are important for general practice and family practice medicine. In this section we will introduce the Simple type reference set format, the techniques for creation of simple reference sets and provide some examples of Simple reference sets and their usage.

Simple reference sets contain only the basic information needed to define a subset. As presented in the section about the , each member in a reference set has a referencedComponentId attribute, which is used to refer to the component that is a member of the reference set. Within the instances of this attribute, the individual references to components are stored. The diagram below illustrates an example of a simple reference set, and illustrates how the subset members are referenced in the referencedComponentId attribute.

The query specification type reference set is used to hold a series of queries used to represent the membership of a subset of SNOMED CT components.

A query contained in the reference set is run against the content of SNOMED CT (the substrate) to produce a subset of concepts, descriptions or relationships (the expansion). The query is referred to as an definition of the subset. It can be run against new releases of SNOMED CT to generate an updated set of subset members. Additionally, the members of the expansion may also be represented in an enumerated form as a . An enumerated representation of a subset is referred to as an definition of a subset. The diagram below illustrates the relation between the query specification reference set and the simple reference set. The intensional definition is represented in the 'query' attribute, and the identifier for the expansion's simple reference set is represented by the concept referenced in the 'referencedComponentId' attribute.

The two tables below illustrate the relationship between the query specification type reference set and the simple reference set. The referencedComponentId in the query specification type reference set references a concept which represent the simple type reference set, which is used to hold the expansion of the intensional definition.

id
effectiveTime
active
moduleId
moduleId_term
refsetId
refsetId_term
referencedComponentId
referencedComponentId_term
query
query_term
id
effectiveTime
active
moduleId
moduleId_term
refsetId
refsetId_term
referencedComponentId
referencedComponentId_term

The is the recommended language for specifying queries over SNOMED CT content. This language allows for a consistent and machine-readable representation of sets of clinical meanings. This means that a set of expression constraints can be used to specify the intensional definition of a range of subsets used in a particular context. The use cases for the subset generated from the queries within a query specification reference set are similar to the use cases for . However, the query specification reference set type can be used anywhere a set of queries needs to be managed.

Field
Data type
Purpose

The design of the ordered reference set supports two overall purposes:

  1. Specifying a sequential order of a subset of components

  2. Specifying prioritized groups within a subset of components

Ordered component reference set can be used to create a simple ordered list of components, i.e. a list that do not include any nesting, or groups. It can for example be used to prioritize the sort order of the descriptions with identical terms when they are displayed. It can also be used to specify the order of descriptions displayed in a simple pick list.

Prioritization is similar to order but multiple components may have the same rank. In this case the value of the order attribute specify a priority order for a group of components.

Specific reference set attributes used to build an alternative hierarchical view of SNOMED CT

Attribute
Description

The Association type reference set represents a set of unordered associations of a particular type between components, i.e. concepts, descriptions and relationships. The referencedComponentId references the source component of the association, whereas the reference set specific attribute, the targetComponentId, references the target component of the association.

Associations between components can be used to form groups of components, as illustrated in the diagram below. When using an association reference set to specify group, the sort order of the group members is not specified, as when using the Ordered type reference set.

Field
Data type
Purpose

Some situations may require components to be rendered in an alternative hierarchy than the polyhierarchy specified by the | is a | relationships in SNOMED CT. The diagram below Illustrates how the three attributes referencedComponentId, targetComponentId and order are used to create an alternative hierarchical order of some of the concepts from the subtype hierarchy.

Specific reference set attributes used to build an alternative hierarchical view of SNOMED CT

Attribute
Description

The Component Annotation Type Reference Set is dedicated to providing additional contextual information related to specific SNOMED CT components. This reference set type allows users to annotate SNOMED CT components such as concepts, descriptions, and relationships with supplementary details. Where the 900000000000521006 | Association type reference set| linked a SNOMED CT component to another SNOMED CT component, the Component Annotation Type Reference Set allows a SNOMED CT component to be associated with a wide variety of information.

The primary objective of Component Annotation Type Reference Sets is to offer insights that aid in the evaluation of changes made to SNOMED CT components. These annotations serve as valuable metadata, assisting in the understanding, implementation, and management of SNOMED CT content without impacting the classification of concepts. For instance, they can include details about the rationale behind a modification, usage guidance, or any other relevant information that enriches the understanding of the component's purpose and intended use.

One important use case for the SNOMED CT Component Annotation Type reference set, particularly regarding annotations to concepts, involves the application of attribution annotations, i.e. explaining where certain content comes from. This is helpful when different groups or organizations collaborate on the creation and maintenance of SNOMED CT content.

These annotations can include different types of information, such as hyperlinks or text in different languages. This variety of information helps to keep track of who contributed what and why. For example, web links can directly link to outside sources or contributor profiles, making things transparent and easy to follow. Supporting text in different languages helps people understand content better in different languages. These annotations are like a record book that helps keep track of contributions, encourages teamwork, and explains important details about SNOMED CT content. providing essential context for the content within SNOMED CT.

Besides from the identification and versioning attributes, the component annotation reference set type has following attributes.

Field
Purpose

The Member Annotation Type Reference Set provides the ability to supplement SNOMED CT reference set members with additional informative details. This reference set type enables the association of non-defining annotations with reference set members, providing valuable contextual information about each member's significance or usage.

The objective of Member Annotation Type Reference Sets is to enhance comprehension and implementation by offering supplementary information that aids in the interpretation and utilization of reference set members. These annotations are optional but highly beneficial, offering insights into the purpose, relevance, or specific usage scenarios of individual reference set members. For instance, these annotations might include notes about how a particular member should be used, clarifications on its scope, or any other pertinent details that facilitate effective utilization within diverse healthcare settings.

One significant use case for the Member Annotation Type Reference Set pertains to the representation and management of change notes related to content changes.

In SNOMED CT, a single concept might possess multiple axioms, which represent logical statements defining relationships between concepts. These axioms are represented as members of the OWL Axiom reference set.

By using change notes, content authors can add comments or explanations to each axiom, helping to explain why changes were made or providing additional context about the relationships defined by these axioms. This annotation method assists in keeping track of modifications, offering insights into the reasons behind changes, and aiding in understanding the logical structure of SNOMED CT concepts.

Besides from the identification and versioning attributes, the annotation reference set type has following attributes.

Field
Data type
Purpose

An attribute value reference set is a component reference set used to apply a tagged value to a SNOMED CT component. The pattern of the attribute value reference set is similar to that of the , despite the fact that the components referenced in the valueId attribute must be a subtype of the concept 900000000000491004 | Attribute value|, which include the concepts shown in the images below.

An 900000000000480006 | Attribute value type reference set| allows a value from a specified range to be associated with a component. This type of reference set can be use for a range of purposes where there is a requirement to provide additional information about particular concepts, descriptions or relationships. In the International Edition of SNOMED CT an 900000000000480006 | Attribute value type reference set| is for example used to indicate the reason why components have been inactivated.

  • 900000000000489007 | Concept inactivation indicator attribute value reference set (foundation metadata concept)|

  • 900000000000490003 | Description inactivation indicator attribute value reference set (foundation metadata concept)|

Field
Data type
Purpose

Language reference sets are used to specify the acceptability and preference for using a particular description in a specific language, dialect or clinical context. To understand the importance of Language reference sets it is necessary to be aware of the characteristics of SNOMED CT Descriptions and their representation.

SNOMED CT contains descriptions and each description contains both a human-readable term and some information about the term. A description is used to give meaning to a concept and provide well-understood and standard ways of referring to a concept. So, each description is associated with a specific concept, but each concept is associated to several descriptions. Additionally, the descriptions are specific to a language or dialect.

All Descriptions are of a specific type and the most common description types are the Fully Specified Name and Synonym. The Description file holds descriptions that describe SNOMED CT concepts. The description file is released with the International Edition of SNOMED CT. National or Affiliate Editions may develop their own description file, e.g. to represent description in their own language and/or dialects.

The Language reference set is essential to enable the preferred terms to be identified for each concept. Language reference sets refers to Descriptions that is used in a particular language or dialect. For each Description referenced in the language reference set a value for the acceptability of the term associated with that Description is assigned. The values for the Acceptability attribute is represented by descendants of the concept 900000000000511003 | Acceptability|, which is placed in the foundation metadata subhierarchy of SNOMED CT.

Value
Description

The following diagram shows an example of the description file included in the International Release and the US Language reference set, which is also distributed with the International Release of SNOMED CT. The language reference set states the acceptability of the descriptions, i.e. whether they are preferred or synonym. For each concept there may be any number of acceptable descriptions of each description type in each language reference set. The diagram below shows how the description file holds information about the description type, and the language reference set specify the acceptability of the descriptions.

Even though a concept has several descriptions of the type 900000000000013009 | Synonym (core metadata concept)| related to it, the language reference set allows automatic identification of the preferred term. The language reference set does not contain any terms, as these are represented in the description file. Hence, it refers to descriptions by referencing the descriptionId, and the description release file is therefore a prerequisite for retrieving the actual term when applying the language reference set .

Field
Data type
Purpose

When SNOMED CT is translated into other languages, it requires the Extension to include a description release file containing the new descriptions with the translated and approved terms. It also requires a language reference set, which specifies the acceptability of these new descriptions. The language reference set necessary to distinguish the preferred synonym (preferred term) from the acceptable synonyms, and it is required for specifying the preferred Fully Specified Name (FSN) within that language. A concept may have more than one FSN, but only one of these may be marked as 'preferred' in a given language. A Language Reference Set is therefore used to specify which FSN description is preferred in each language or dialect.

Even when SNOMED CT is not translated into other languages, a Language Reference Set can be used within an Extension to specify which of the existing descriptions from the International Edition are preferred and accepted within the particular context where the Extension is applied. The table below illustrates that within a single SNOMED CT Edition, multiple language reference sets can be created.

Edition
Available Language reference sets

It is acknowledged that members and affiliates developing reference sets need to create human-readable versions of the reference sets. Human readable reference sets are used to allow reference sets to be inspected without requiring a software service to resolve the id's referenced in the reference set.

Supporting the readability of reference sets is particularly important for:

  • Review

    • I.e. Subject matter experts who are involved with reviewing the content of reference sets

  • Educational and dissemination

SNOMED International specifies a recommended format for human-readable reference sets to

  • Avoid people reinventing and coming out with different solutions

  • Allow a standard representation of reference sets shared as part of agreements with other standards bodies

  • Allow tooling support (whether internally or externally developed)

A column is added for the human-readable version of an attribute, with the addition of '_term' to the attribute name.

Examples of this include

  • The corresponding human-readable column for the attribute refsetId is refsetId_term

  • The corresponding human-readable column for the attribute referencedComponentId id referencedComponentId_term.

  • The corresponding human-readable column for the attribute acceptabilityId is acceptabilityId_term

...
refsetId
referencedComponentId
acceptabilityId
...
refsetId
refsetId_term
referencedComponentId
referencedComponentId_term
acceptabilityId
acceptabilityId_term

When creating a human-readable refset it should be considered which term to include for each of the human-readable attributes. It is often preferable to include the preferred term from an appropriate dialect within the expressions to improve the human-readability of the attribute value. However, if it is required to disambiguate which hierarchy the concepts come from then the FSN can be used.

Sometimes it may be relevant to add one or more columns to function as a placeholder for comments related to either specific attributes, or for the reference set member (row) as a whole. To enable that these columns can be automatically identified as non-standard specific, we recommend to use following naming convention for these columns.

The '_'-symbol is used to represent that this column represent comments, or information, which shouldn't be included when the reference set is used as part of a SNOMED CT implementation.

It is therefore important that fields holding comments are not used for purposes important for use of the reference set. If the column is central for the machine-processable version of the reference set, then the column should be specified as a reference-specific attribute in a customized reference set () and identified in the reference set descriptor ( ).

The '_'-symbol is used as a prefix in front of a self-determined string. I.e the string can be any term which make sense for the actual situation, e.g. '_comment' can be used to allow reviewers to provide a comment to the specific attribute, or '_alternatives' may be used to suggest alternative members or member values, which can be used for proposals as part of a review process while the refset is under development.

SNOMED International recommends two uses of the '_'-symbol:

  • <attributename>_<string> is used to refer to a specific attribute value

  • _<string> is used to refer to a whole reference set row, i.e a specific version of a reference set member.

...
refsetId
refsetTerm
referencedComponentId
referencedComponentTerm
referencedComponentId_comment
referencedComponentId_alternatives
acceptabilityId
acceptabilityTerm
...
refsetId
refsetTerm
referencedComponentId
referencedComponentTerm
acceptabilityId
acceptabilityTerm
_comment

For all uses of human-readable reference sets and use of additional annotations it is very important that users do not include information which affects the use of the reference set within the human-readable columns (columns with the '_' prefix). All information relevant for implementation, processing and processing of the reference set should be represented according to the standard, machine-processable format. Consequently, all columns with the '_'-prefix should be able to be ignored when the reference set is implemented.


<UUID>

20160131

1

19999999103

Example Extension Module

900000000000513000

Simple query specification reference set

739999999103

Route of administration simple reference set

< 284009009

Descendants of | Route of administration value |

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

420254004

Body cavity route (qualifier value)

<UUID>

20160131

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

419762003

Peritendinous route (qualifier value)

<UUID>

20160131

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

37161004

Rectal route (qualifier value)

<UUID>

20160131

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

419954003

Ileostomy route (qualifier value)

<UUID>

20160131

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

445754005

Intragingival route (qualifier value)

<UUID>

20160131

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

448077001

Intraepidermal route (qualifier value)

<UUID>

20160131

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

420163009

Esophagostomy route (qualifier value)

<UUID>

20160131

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

446442000

Transplacental route (qualifier value)

<UUID>

20160131

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

448491004

Intrajejunal route (qualifier value)

<UUID>

20160131

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

127490009

Gastrostomy route (qualifier value)

<UUID>

20160131

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

419243002

Transcervical route (qualifier value)

<UUID>

20160131

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

...

...

<UUID>

20160131

1

19999999103

Example Extension Module

739999999103

Route of administration simple reference set

...

...

value

The Annotation itself, with a maximum size of 32Kb, represented in encoding.

3ddfb6d2-0874-4916-8767-8d48c781d435

en

| Change note|

In the third International Consensus Definitions for Sepsis and Septic Shock (Sepsis-3) published in 2016, the new definition eliminated the requirement for the presence of systemic inflammatory response syndrome (SIRS) to define sepsis. The sepsis is now logically defined as Organ dysfunction syndrome (disorder) with pathological process of disregulated host response due to infectious disease.

languageDialectCode

String

Specifies the language of the Annotation text using the two character ISO-639-1 code. Note that this specifies a language level only, not a dialect or country code.

NOTE: This field should be blank wherever a language code is not applicable, but never NULL.

typeId

SCTID

Any descendant of 1295447006 |Annotation attribute (attribute)| excluding 1295449009 |Additional relationship attribute (attribute)| and its descendants.

value

String

The Annotation text itself, with a maximum size of 32Kb, represented in encoding.

Swedish Edition

I.e. when explaining the structure and content of reference sets

42969009

900000000000549004

900000000000508004

80146002

900000000000549004

900000000000508004

80146002

900000000000548007

900000000000508004

271737000

900000000000548007

900000000000508004

271737000

900000000000549004

42969009

Cauterisation of skin

900000000000548007

Preferred

900000000000508004

GB English

42969009

Fulguration of subcutaneous tissue

900000000000549004

Acceptable

900000000000508004

GB English

80146002

Excision of appendix

900000000000549004

Acceptable

900000000000508004

GB English

80146002

Appendicectomy

900000000000548007

Preferred

900000000000508004

GB English

271737000

Anaemia

900000000000548007

Preferred

900000000000508004

GB English

271737000

Absolute anaemia

900000000000549004

Acceptable

900000000000508004

GB English

42969009

Cauterisation of skin

comment related to the concept | Cauterisation of skin |

suggested alternative(-s)

900000000000548007

Preferred

900000000000508004

GB English

42969009

Fulguration of subcutaneous tissue

900000000000549004

Acceptable

900000000000508004

GB English

80146002

Excision of appendix

comment related to the concept | Excision of appendix |

900000000000549004

Acceptable

900000000000508004

GB English

80146002

Appendicectomy

suggested alternative(-s)

900000000000548007

Preferred

900000000000508004

GB English

271737000

Anaemia

comment related to the concept | Anaemia |

suggested alternative(-s)

900000000000548007

Preferred

900000000000508004

GB English

271737000

Absolute anaemia

comment related to the concept | Absolute anaemia |

900000000000549004

Acceptable

42969009

Cauterisation of skin

900000000000548007

Preferred

900000000000508004

GB English

42969009

Fulguration of subcutaneous tissue

900000000000549004

Acceptable

comment related to the specific row

900000000000508004

GB English

80146002

Excision of appendix

900000000000549004

Acceptable

900000000000508004

GB English

80146002

Appendicectomy

900000000000548007

Preferred

900000000000508004

GB English

271737000

Anaemia

900000000000548007

Preferred

comment related to the specific row

900000000000508004

GB English

271737000

Absolute anaemia

900000000000549004

Acceptable

<UUID>

referencedComponentId

SCTID

The identifier (refsetId) of the reference set for which members are to be generated.

query

String

The serialised query that can be used to (re-)generate the reference set members.

The SNOMED CT Query Language is a formal language for representing computable queries over SNOMED CT content.

referencedComponentId

The identifier of a SNOMED CT component that is included in the ordered list of alternative hierarchy.

order

Specifies the sort order of the list. The list is ordered by applying an ascending sort of the order value. The value of order =1 represents the highest priority. A value of '0' is not allowed. Duplicate values are permitted and the sort order between two members with the same order value is not defined.

referencedComponentId

SCTID

The identifier of the source component of the association.

targetComponentId

SCTID

The identifier of the target component of the association.

referencedComponentId

The identifier of a SNOMED CT component that is included in the ordered list of alternative hierarchy.

targetComponentId

The identifier of a SNOMED CT component that acts as a grouper or hierarchy node, collecting together a subgroup from within the list. This field either enables reference set member linked into a number of subgroups. These subgroups can be nested allowing representation of alternative hierarchies.

To place reference set members in a subgroup, all components in the same subgroup should reference the same component. This can either be a component that represents the name of that subgroup or the first member of the subgroup. In the latter case, the first row of each subgroup will contain the same identifier in referencedComponentId and targetComponent and with order =1.

To associate a number of children concepts to a single parent concept, one member record should exist per child, with the referencedComponentId field referencing the parent and this field referencing the child concept. The order field is then used to order the children concepts under the parent concept.

order

Specifies the sort order of the list. The list is ordered by applying an ascending sort of the order value. The value of order =1 represents the highest priority. A value of '0' is not allowed. Duplicate values are permitted and the sort order between two members with the same order value is not defined. If the targetComponentId value is not 0, sorting occurs within subgroups that share the same targetComponentId value.

referencedComponentId

The identifier of the component to be annotated.

languageDialectCode

Specifies the language of the Annotation text using the two character ISO-639-1 code. Note that this specifies a language level only, not a dialect or country code.

NOTE: This field should be blank wherever a language code is not applicable, but never NULL.

typeId

Any descendant of 1295447006 |Annotation attribute (attribute)| excluding 1295449009 |Additional relationship attribute (attribute)| and its descendants.

moduleId

refsetId

referencedComponentId

referencedMemberId

languageCode

annotationTypeId

Annotation

900000000000012004

| SNOMED CT model component module|

1292995002 | Member annotation with string value reference set (foundation metadata concept) |

referencedComponentId

SCTID

A reference to the SNOMED CT component to be included in the reference set.

The concept to which the Annotation applies.

referencedMemberId

UUID

The UUID of the relevant member of the reference set in SNOMED CT.

referencedComponentId

SCTID

A reference to the SNOMED CT component being tagged with a value.

valueId

SCTID

The tagged value applied to the referencedComponentId. A subtype of 900000000000491004 | Attribute value| .

900000000000548007 | Preferred (foundation metadata concept) |

The term associated with this description is the preferred description, of the specified Description.typeId, for the associated concept, in the language or dialect represented by this reference set. If the Description.typeId is synonym, this description is the preferred term. If the Description.typeId is fully specified name this description is the preferred fully specified name. For each concept there should be exactly one preferred description of each Description.typeId in each language reference set.

900000000000549004 | Acceptable (foundation metadata concept) |

The term associated with this description is acceptable for use in language or dialect represented by this reference set.

referencedComponentId

SCTID

The identifier of a description included in the language reference set.

acceptabilityId

SCTID

A subtype of 900000000000511003 | Acceptability| indicating whether the description is acceptable or preferred for use in the specified language or dialect.

International Edition

Canadian EN Edition

Danish Edition

900000000000508004

42969009

900000000000548007

900000000000508004

900000000000508004

Simple Reference Set

Query Specification Reference Set

Reference Set Specific Attributes

Ordered Component Reference Set

Ordering

Prioritization

Reference Set Specific Attributes

Association Reference Set

Reference Set Specific Attributes

Ordered Association Reference Set

Alternative Hierarchy

Reference Set Specific Attributes

Component Annotation Reference Set

Example Use Case

Reference Set Specific Attributes

Member Annotation Reference Set

Example Use Cases

Reference Set Specific Attributes

Attribute Value Reference Set

Refset Specific Attributes

Language Reference Set

Descriptions and Language Reference Set

Language Reference Sets in National Editions

Human-Readable Reference Set

Purpose of Human Readable Reference Sets

Format

Characteristics of the Term

Human-readable Annotations to Reference Set Attributes and/or Members

Considerations for Use of the Human-Readable Reference Set

historical association reference set
reference set design
intensional
simple reference set
extensional
Expression Constraint Language
simple reference sets
association reference set
Pre-defined and Customized Reference Sets
Reference Set Types and Descriptors
Provide Feedback
Simple reference set example
Ordered reference set with no groups
Ordered reference set with prioritized groups.

20160131

91302008 |Sepsis (disorder)|

900000000000508004

GB English

GB English

Defining Requirements and Scope

The initial focus of the reference set development work is to establish a clear set of initial requirements, which may require further elaboration at a later date. The requirements should include an assessment of the release requirements for the reference set from a user perspective.

Defining the scope of the reference set involves answering a range of different questions related to each step of the development process. Following questions are relevant to consider when defining the scope of a reference set. Additional questions will probably be relevant for a specific development process.

  • What is the main purpose of the reference set?

  • Who are the users of the reference set?

  • What is the scope of content of the reference set?

  • Who is responsible for developing and maintaining the reference set?

  • Should we develop a new reference set or does any existing reference set meet our requirements?

Once the scope of the reference set and the requirements has been identified, it is essential that an owner of the reference set is clearly identified (this may be an individual or a specific group). Furthermore, the requirements must be clearly documented, particularly the scope, purpose and use case(-s).

The owners of the reference set must then assess what content to be included in the reference set. This process may involve evaluating existing reference sets, or assessing what parts within the International Release of SNOMED CT (and potentially National and Affiliate Editions) will meet the stated requirements. At this stage the requirements for ensuring the content of the subset is quality assured should also be documented.

Provide Feedback
Reference Set Release Files Specification
simple map reference set
complex and extended map reference
module dependency reference set
UTF-8
UTF-8

Introduction

Background

SNOMED CT provides the core clinical terminology for the electronic health record (EHR) and contains more than 300,000 active concepts with unique meanings. These concepts are organized into hierarchies and have formal logic-based definitions. When implemented in software applications, SNOMED CT can be used to represent clinically relevant information consistently, reliably and comprehensively as an integral part of producing electronic health records. Due to the comprehensiveness and expressivity of SNOMED CT it is often useful to constrain its use to a subset of concepts, descriptions or relationships relevant to a particular use case. SNOMED CT reference sets provide a standard way to represent subsets of SNOMED CT components. Reference sets also provide an extensible mechanism to customize the terminology to meet a wide range of practical requirements.

Purpose

The aim of this document is to provide a high level introduction to SNOMED CT reference sets, and to explain the different types of reference sets and their usage. Furthermore, the document includes an introduction to the reference set format and provides guidance on the development and management of reference sets. Thus, the objective of this document is to support users of SNOMED CT in :

  • Understanding the purpose of reference sets

  • Knowing about the different types of reference sets and their characteristics

  • Choosing the correct type of reference set for a specific purpose

  • Creating, developing and maintaining reference sets

  • Using reference sets together with other SNOMED CT resources (for entry and display, analytics, knowledge linkage, communication)

  • Sharing reference sets

  • Adopting or adapting existing reference sets

  • Exploring and assessing the content of existing reference sets

The intended audiences for this guide are those involved in the creation, maintenance and usage of SNOMED CT reference sets. More specifically, this includes:

  • SNOMED International Members who wish to learn about the practical uses of reference sets or who are involved with defining reference sets

  • Clinicians, informatics specialists and technical staff involved in the planning, management, design or implementation of reference sets.

  • Software vendors, data analysts, epidemiologists and others designing SNOMED CT based solutions.

This document assumes a basic level of understanding of SNOMED CT. For background information the reader should refer to the .

Audience

SNOMED CT Starter Guide
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Reference Set

A reference set is defined as: a standard format for maintaining and distributing a set of references to SNOMED CT components.

Notes

  • A reference set can be used to represent a subset of components (concepts, descriptions or relationships).

  • A reference set may also associate referenced components with additional information such as:

    • Ordered lists of components

    • Sets of associations between components

    • Mapping between SNOMED CT concepts and other systems codes, classifications, or knowledge resources.

Hence, reference sets are a mechanism that can be used to represent subsets and value sets of SNOMED CT components. However, they can also be used for many other purposes, including those summarized in the section. The following table lists the attributes used in the standard reference set format, and their purpose.

Table: Standard reference set format

Attribute
Purpose

SNOMED CT is designed to allow the International Edition to be extended to meet national or local requirements. A SNOMED CT Extension may contain components of various types including concepts, descriptions, relationships and derivatives including reference sets. Since the International Release and extensions share a common structure, the same application software can be used to enter, store and process information from different extensions. Extensions can also be shared without requiring additional software procurement or development. Most Extensions are managed by Members or Affiliates of SNOMED International.

Reference sets authored in an extension use the same common format as those in the International Edition. This makes it easier to use the same software to create, maintain and share extension reference sets, as used by international reference sets. The reference set format can also be customized in an extension using a standardized customization approach, as explained in section .

moduleId

General versioning information

refsetId

Reference set identifier

referencedComponentId

Component reference

< attribute-1 _ … attribute-n >

Additional information depending on reference set type

id

General versioning information

effectiveTime

General versioning information

active

General versioning information

Reference Sets in an Extension

Use Cases
Pre-defined and Customized Reference Sets
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Communication

Messages and communication services are a means of exchanging data and thus enable effective and efficient communication among healthcare professionals and between patients and providers. SNOMED CT is important for communication because it serves as a semantic foundation for the meaning expressed in a message. Hence, SNOMED CT can ensure consistent and accurate representation of the information communicated, and support correct interpretation of the clinical information within a message.

Communicating clinical data through messages support a range of purposes, including:

  • Delivering accurate, accessible, and actionable health information that is targeted or tailored.

  • Facilitating the meaningful use and exchange of health information among healthcare professionals.

  • Supporting shared decision-making between patients and providers.

  • Providing personalized self-management tools and resources.

  • Building social support networks.

  • Increasing health literacy skills.

Healthcare messages include fields that can be populated with codes from clinical coding schemes. SNOMED CT provides concept identifiers as a means of encoding concepts. These concept identifiers are suitable for use in appropriate fields of many clinical messages.

Implementations of clinical messaging typically constrain the range of values that can be applied to particular fields several reasons for this are listed in the following table.

Table: Reasons for constraining the content of fields in clinical messages

Reason
Example

For a more detailed use case example, please refer to the following section:

Communication specifications define structures designed to meet particular requirements. For example, recording a decision to prescribe a particular pharmaceutical product or substance might trigger an electronic prescription sent to the pharmacy. Reference sets may also be used to specify the allowed values in messages and for constraining the codable elements in data entry models. For some bindings it may be relevant to apply certain conditions, to enable that one value set is displayed given a specified criteria, and another value set is displayed given another criteria (or set of criterions). An example of such conditional value set binding is illustrated below.

Table: Types of Reference Sets applicable for messages

Type
Description

To avoid unnecessary detail or diversity.

A biochemical investigation could be reported using a code that represents various detailed aspects of the method used to perform the investigation. Such details may be unnecessary to a clinician and may complicate the analysis, charting and graphing of a series of results reported at different levels of detail.

To ensure that the information encoded is meaningful as a value for the specified field.

A field that is intended to describe the nature of investigation may contain a code that means "Serum glucose measurement" but should not contain a code that means "Hypoglycemia."

To ensure that receiving application is able to process the message.

A locally added code value may be valid in a particular application but should not be used if the receiving application needs to retrieve, process or analyze the coded part of the message.

To ensure adequate detail and specificity.

A field used to report an operative procedure could contain a code for "Abdominal procedure." However, this would not be adequate to meet the business purpose served by a message.

Simple reference sets

A simple reference set may be used to represent a SNOMED CT-based value set applicable to a particular field in a message. The items to be populated in a particular field in the message can be constrained by filtering searches so that only concepts within that reference set are returned.

Query specification reference set

Query specification reference sets may be used to represent a set of intensionally defined SNOMED CT subsets, where each subset represents the value set for a particular field in a communication messages. One query specification reference set may therefore be used to hold all value sets applicable within a single communication messages, or within a set of messages.

Use of SNOMED CT in Messages

Constraining the Coded Content of Messages

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Conditional value set binding

Implement and Use

When a reference set has been developed and tested it should be prepared for use by implementing it in the environment where it is going to function. I.e. the implementation process and the tasks involved will vary dependent on the setting.

Often, implementation of a reference set will mean integration with one or more software artefacts, to enable data capture, represented by appropriate reference set members.

An important part of this process is proper binding between the information model and the reference set to ensure effective integration with data entry and storage functions. Many situations will also involve implementation of two or more interdependent reference sets, which require their dependencies to be considered to reach the most optimal implementation.

In this guide we highlight two aspects that are important when implementing SNOMED CT reference sets, i.e. supporting implementation with proper implementation guidance and considerations related to optimizing the reference set for a particular implementation.

Implementation Guidance

The tasks involved with implementing a reference set will depend on the situation and the technical setting where the reference set is going to function. To support successful implementation, and to ensure that the reference set is used as intended it is important with precise and clear instructions for the people responsible for implementing the reference set, i.e. the people preparing the reference set for routine use within a particular setting.

Implementation guidance should, as a minimum, include instructions on:

  • The overall purpose and intended use of the reference set

  • The reference set design, i.e. attributes and data types

  • Dependencies to terminology artifacts, such as

Additionally, it is valuable to include instructions on how to test the implementation, i.e. exemplar test cases with information on expected outcome given a specific action.

As part of an implementation process it is relevant to consider any optimization that could be done to meet requirements for implementation or result in a more effective and/or efficient use at runtime. Because, even though reference sets are distributed in separate files and represented according to the reference set file format, it may be useful to transform these reference sets files into another structure that is more appropriate for the specific use case.

Optimizations that could be considered include:

  • Controlled redundancy. For some matters it may be useful to introduce some level of redundancy, e.g. by joining reference sets or release files together so that the data is more efficient to access at runtime

    • e.g. combining a simple reference set of concepts with the description file, so that the term preferred for display can be retrieved directly from the subset file.

    • e.g. combining the description file with a language refset, so that the term is in the same row as the acceptability of the description, and the concept id that it describes.

other reference sets
  • content in the international edition of SNOMED CT

  • content in SNOMED CT extensions

  • Dependencies to software artifacts, such as

    • information model structures, i.e.

      • data entry template structures

      • storage model structures

      • message structures

  • Maintenance

    • release cycles

    • change management

    • request for change

  • Terminology reduction (constrain). For the purpose of supporting effective use and ensuring that only relevant components are accessed during runtime it may be useful to filter the components down to only those that are relevant for a specific use case.

    • One way of doing this is by creating simple reference sets of the components that are relevant in a given situation, for example:

      • A subset of relevant concepts.

      • A subset of descriptions acceptable or preferred for the set of concepts.

      • A subset of relationships that are important to know about for that specific subset of concepts and for the given use case. What relationships to include will be very dependent on the use case. In some situations, the relationship subset may be irrelevant, and in other situations it may be important to include all defining relationships and all transitive 'is a' relationships of the subset members.

  • Filtering to a snapshot view of the subset. As for any other SNOMED CT component changes to reference set members are likely to occur, and as for SNOMED CT components, reference set members can be updated or inactivated. Therefore, it may be useful to create a snapshot view of the reference set to be used for implementation, so that only the latest version of all reference set members can be accessed during runtime. Alternatively, it may be useful to create a view which only includes the most recent version of all active reference set members. This will depend on whether the inactive members should be accessible for viewing or not.

  • Optimization for Implementation

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    Prior to implementation a reference set may be transformed into one or more formats, which are optimized for the particular use of the reference set

    Requirements and Use Cases

    Reference sets are useful for a range of purposes, and different types of reference sets have been defined to meet various requirements. It is therefore important to understand the requirements for reference set usage in order to be able to select the appropriate reference set design.

    Reference sets are useful for including, excluding and prioritizing content or managing the use of codes for data entry, communication or analysis purposes. Reference sets are important when customizing the use of SNOMED CT to meet specific requirements. For example, to meet national, jurisdictional or organizational requirements for recording clinical information, or to assess regional variations in disease prevalence or health delivery.

    Practical use cases for SNOMED CT span the entire clinical information lifecycle from data entry, through to storage, display, communication, retrieval, analysis and reuse. Reference sets support effective and efficient use of SNOMED CT for a range of purposes at different stages in that lifecycle. For example, reference sets can assist with user interface customization, specification of reporting criteria, mapping to statistical classifications and representation of links to knowledge resources. They can also be used to represent terminology bindings and to validate the content of both inbound and outbound communications.

    The subsequent sections will introduce some of the typical requirements and use cases for reference sets and the different types of reference sets which support these use cases.

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    Manage and Maintain Reference Sets

    With time, the set of concepts, or other components, referenced in a reference set will need to change, either because of changes in SNOMED CT, changes in clinical knowledge, or changes dictated by errors or omissions in the original reference set. The original reference set will have been given an identifier that is used to reference the reference set in models or other entities that use that particular reference set. When a change is required that maintains the original intent but updates the content, the change is considered a new version of the reference set. Versioning maintains the reference set identifier and additional reference set attributes.

    Following topics will be presented in relation to reference set maintenance:

    • Reference Set Management Considerations

    When developing or evaluating a change management process it is important to take different factors into account. Some of these factors are introduced in the table below.

    Table: Change management considerations

    Topic
    Description

    Maintaining reference sets starts as soon as the reference set is specified. The maintenance process involves ensuring that the content of the reference set refers to active concepts in the release upon which the reference set depends. It also involves adding new content to the reference set, for example when additions to the dependee Release fall within the scope of the reference set specification. The alignment of a reference set with the International Release will be undertaken during the international release process, at which time a change report will be created for circulation, providing details of the changes made, in a format that can be circulated virtually to subject matter experts.

    The tasks related to reference set changes will typically involve substituting a prior version of a reference set with the more recent version. For example, if a reference set represents a value set which is used in a data entry interface, the reference set may simply be replaced by the updated version of that reference set. On the other hand, if the reference set is of a more complex nature, for example, if it represents a map between SNOMED CT and a classification, and is used for quality monitoring, research, reimbursement etc., it might be necessary to go into more detail about the implications of the change. Regardless of the type of reference set change (addition, inactivation or change) it will always have implications.

    If a reference set is added data entry protocols should be updated to link to this reference set where this is found appropriate. For example, if a reference set has been developed to function as a value set for cardiovascular diseases, data entry protocols should link to the reference set in the data entry protocols used to capture cardiovascular diseases. The nature of the binding depends on the underlying information model of the protocol. Additionally, it is important to update the storage models appropriately. See, to learn about this topic. It may also be necessary to develop queries to generate reports or views based on the new reference set data. Alternatively, an added reference set may include rules to enable decision support, which must be integrated. It may also be necessary to create or update links between reference set members and communication protocols.

    A reference set may be inactivated in situations where an organization is no longer able or prepared to maintain it.

    Inactivation of an entire reference set is done by inactivating the concept that identifies the reference set, and inactivating the relationship used to place the reference set in the subtype hierarchy.

    Reference sets that are being actively used should not be inactivated without giving prior notice to the users of the reference set, to allow remedial steps to be taken.

    Any function using a reference set that is no longer maintained will need updating. For example, if a reference set is inactivated, which is used for data entry, it is important to determine how the inactivation is managed in the system. Thus, it should be clarified whether a new reference set should be defined or whether the inactivated reference set should be added in a local extension. It may also be that a replacement reference set has already been defined.

    The types of changes that can occur in a reference set include:

    • Changes to reference set members

    • Addition of reference set members

    • Inactivation of reference set members

    The effect of changes to reference set members depends on the type of reference set and the way the reference set is used. Generally, it is important to assess the extent to which the reference set changes affect the situation in which the reference set is used, such as:

    • Data entry. Changes to reference set members may require changing existing data entry protocols.

    • Data storage. Changes to reference set members may require migrating or processing pre-existing data in a particular way to ensure consistency.

    • Data retrieval. Changes to reference set members may require revising existing queries to take account of the changes.

    One way of determining the changes to a reference set is by creating and comparing the following two views of the reference set:

    • SNAPSHOT view of the previous reference set release. This view contains one version of every member released up to the time of the snapshot. The version of each member contained in a snapshot is the most recent version of that member at the time of the snapshot.

    • DELTA view of the new reference set release. This view contains only reference set member versions created since the previous reference set release. Each reference set member version in the DELTA view represents either a new reference set member or a change to an existing member.

    These two views make it possible to automatically identify whether a reference set member has been created, changed, reactivated or inactivated. The table below illustrates how to interpret the 'active' attribute, when comparing the delta view of the new release of the reference set with the snapshot view of the previous release of the reference set.

    As clinical practice evolves and adapts to meet the needs of healthcare advances, SNOMED CT content is updated to address these changes. Reference sets may also need to be updated to reflect content changes and to enable clinicians to adequately represent new and emerging techniques and practices. It is therefore important to establish processes for end users and other stakeholders to submit requests for changes. Related to reference sets the types of changes that may be required include:

    • Addition of new reference set members

    • Removal of reference set members

    • Changes to existing reference set members

    When new members are requested for inclusion in a reference set, it should be determined whether any existing components in SNOMED CT are sufficient, or whether it requires a new component to be added - either in the International Edition or as part of an Extension.

    To remove a referenced component from a reference set, the relevant reference set member is inactivated. This is done by adding a new row to the reference set in which the value of the active column is set to false. The SNOMED CT versioning mechanism tracks the full history of additions, changes and inactivations because each row in the reference set contains a effective time column indicating when the change became effective. This is the same versioning mechanism with is used to track addition, inactivation and modification of SNOMED CT components.

    Changes to reference set members can vary, dependent on the refset type and the situation. Examples of changes include:

    • Changing the order assigned to a member of an ordered reference set

    • Changing the annotation associated to a member of an annotation reference set

    • Changing a description from being acceptable to preferred in a language reference set

    The type of service implemented to support change requests will depend on the amount of reference sets, the number of users, the organisation etc.. Smaller organisations with relatively a few end-users may apply a simple email service for proposing any changes to the refset. Other institutions may implement dedicated systems that track each change request and support proper management of those.

    Authoring and managing reference sets require some level of tooling support. Broadly speaking, two types of tooling support exists:

    1. Combination of browsing functionality and simple spreadsheets or database system

    2. Dedicated reference set management tools with extended features

    The extend of sophistication of the tool required depends on various factors, and the combination of those factors:

    • Type and size of reference set

      • Simple reference sets with few members

      • Large reference sets of various types

    Relevant functionalities for reference set creation and management include:

    • Creation of both extensional and intensional reference sets

      • Services for browsing and displaying SNOMED CT content for manually selecting reference set members

      • Services for manual and intensional expansion of reference set (inclusion of reference set members)

    Generally, it is not recommended to use a spreadsheet approach for managing reference sets, because there is a dependency between the reference set and the core content of SNOMED CT. The SNOMED CT release files are important for interpreting the components referenced by the reference set, for example:

    • Description file: Access to the descriptions are required to display the terms of the components referenced by the reference set.

    • Concept file: Access to the concept file is required to assess whether the components referenced by the reference set are active or inactive

    However, in some situations spreadsheets (supported by a browsing facility) may be feasible, for example,

    • If the reference set only consists of a few members

    • If the reference set is only used locally

    • If only one person is responsible for managing the reference set

    If a spreadsheet approach is chosen it is recommended to create a of that reference set to support interpretation of the identifiers used in the reference set.

    What should users of the subset do in the period between recognizing the need for a change, and that need being met by a new release of the subset?

    Options may include using free text, creating local codes, or waiting for the revision to be available.

    Revision cycle

    Will there be a predictable revision cycle with regular releases, or will changes be made on an as-needed basis?

    Resources

    What editorial and technical resources are needed?

    Knowledge linkage. Changes to reference set members may require updating bindings to knowledge resources or decision support rules.
  • Communications. Changes to reference set members may require updating communication specifications, and in particular managing issues from cross-version communications.

  • Updating the query for an intensional subset definition represented by a member of a query specification reference set
    Use of reference set
    • Local vs. distributed

    • Dependencies (Editions, versions)

  • Maintenance of reference set

    • Cycle

    • People

  • Services for manual and intensional exclusion of reference set members
  • Create reference sets according to a specific reference set pattern

  • Create customized reference sets

  • Version management of created reference sets

    • Computation of the effect of a related SNOMED CT edition and version on a reference set

  • Workflow support

    • Mechanism for approval of reference set before publishing

    • Facility for external feedback and request for change

  • Searching existing reference sets, as well as entries about reference sets that may be available elsewhere

  • Distribution services

  • Request for change

    Where will the need for change come from?

    This could be any of the stakeholders involved in the capture or use of the information that is expressed using the subset.

    How will change requests be expressed and submitted?

    These may be submitted directly by users, or may be collated and edited by suppliers. The maintainers of the subset may be proactive in looking for improvements, or may wait for requests for change to be submitted.

    What lead time is acceptable for the processing of a change request?

    Reference Set Management Considerations

    Managing Reference Set Changes

    Addition of Reference Sets

    Inactivation of Reference Set

    Changes to Reference Set Members

    Determine changes

    Request for Change

    Types of Reference Set Changes

    Addition of New Reference Set Members

    Removal of Reference Set Members (Inactivation)

    Changes to Existing Reference Set Members

    Approaches

    Tooling

    Functionalities

    Considerations Related to using Spreadsheets to Manage Reference Sets

    Managing Reference Set Changes
    Request for Change
    Tooling
    human-readable version
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    Reporting and Analytics

    The main benefits of using an EHR accrue with the implementation of effective retrieval, analysis and reuse of clinical information. Analysis of health record data may cover:

    • Individual patient records to search for significant patterns that may prompt interventions

    • Patient groups or cohorts, based on demographics, diagnoses, treatments or interventions

    • Enterprise groups, based on teams, wards, clinics, institutions or providers

    • Geographical groups, based on a local area, town, region or country

    SNOMED CT has a number of unique features, which makes it capable of supporting a range of retrieval and analytics functions, which use reference sets. Examples include, but are not limited to:

    • Simple reference sets can be used to represent subsets of SNOMED CT concepts which can be used in queries to identify clinical records

    • Simple reference sets can be used to represent non-standard aggregations of concepts for specific use cases

    • Simple map reference sets, complex and extended map reference sets can be used to define maps from other code systems to SNOMED CT so that clinical data can be prepared for analytics, and then performed using SNOMED CT

    The document provides detailed information about how SNOMED CT can be used for analytics.

    For more detailed use cases, please refer to the following examples:

    Clinical information recorded using SNOMED CT may include data that is relevant to reports, statistical returns, billing claims, etc. that need to be encoded using a specific code system or a statistical classification such as ICD-10. Mapping allows relevant information to be used for those purposes, minimizing the requirement for additional manual data entry.

    Maps are represented as reference sets, which are either of type simple, complex and extended map reference sets. Special cases may also occur, which require a customized reference set to represent the map. An example of this is the 705110001 | LOINC Term to Expression reference set| , which is used to link LOINC Terms to SNOMED CT expressions. The standard reference set format do not support maps to SNOMED CT expressions. Hence, the type of map reference set to use depends on the features that need to be supported by the map.

    Simple map reference sets support mapping SNOMED CT codes to a single code or a combination of codes in a target code system. However simple maps are usually only appropriate where there is an equivalent map between SNOMED CT and the values in the other code system.

    Complex and extended map reference sets enable the representation of:

    • Maps from a single SNOMED CT concept to a combination of codes (rather than a single code) in the target scheme

    • Maps from a single SNOMED CT concept to choice of codes in the target scheme. In this case, the resolution of the choices may involve:

      • Manual selection supported by advisory notes

    The completeness of mapping between two code systems depends on the scope, level of detail provided by the two code systems and the precision of mapping required to safely meet the intended mapping use case.

    The figure below shows an except of some of the reference sets for maps between SNOMED CT and other code systems, which are available with the International Edition of SNOMED CT. However, local maps may also be developed and applied as part of an Extension to SNOMED CT.

    Both extensionally and intensionally defined subsets of SNOMED CT components are useful for specifying clinical queries. For example, subsets of SNOMED CT concepts can be used to categorize patient data by testing for membership in a predefined subset, which is represented as a reference set.

    The (ECL) enables simple queries over SNOMED CT content to be expressed. While the language itself does not support querying over the full EHR content, the ECL could be embedded within record-based query languages (such as SQL) to represent the terminological aspects of these queries.

    Related to reference sets, the ECL includes the ability to refer to a set of concepts that are referenced by members of a reference set. Additionally, it includes a range of features, such as refinements, disjunction, and conjunction, which support specialized queries. The memberOf function evaluates to the set of concepts that are referenced by the given reference set. For example, the following expression constraint is satisfied by the set of concepts which are members of 649999999104 | Example problem list simple reference set| :

    • memberOf 649999999104 | Example problem list simple reference set|

    The diagram below illustrates how reference sets can be for specifying queries.

    Subsets of SNOMED CT concepts can be used to categorize patient data by testing for membership in a predefined subset. The diagram below illustrates the use of a simple reference set which includes references to rare disease concepts. SNOMED CT does not currently have a defined mechanism to distinguish rare diseases, so this simple reference set is defined extensionally (i.e. by enumeration). This simple reference set is used to create a cohort, by categorizing patients according to their SNOMED CT encoded records, and specific values of contextual metadata. By comparing the patient diagnosis with the concepts included in the reference set it is possible to count the total number of patients who suffer from rare diseases.

    A combination of reference sets and subsumption testing can be used to enable a simple, yet sophisticated, analytics feature. For example, you may want to include all of the descendants of reference set members in a particular analysis.

    The diagram below illustrate the difference of categorizing patients using two approaches:

    1. A subset of components.

      • Two patients are included in a query which analyzes encoded health records and checks for membership in the appropriate subset. E.g. patients with a finding included in the rare diseases reference set.

    2. A subset of components and subsumption testing.

    Simple reference sets and ordered reference sets can be used to define language or dialect specific sets of descriptions over which lexical searches can be performed

    Automated selection based on rules that test other relevant characteristics in the source data (e.g. age and sex of the subject, presence or absence of co-existing conditions, etc.)
  • A combination of automated processing with manual confirmation or selection where rules are insufficient to make the necessary decisions

  • Three patients are included in a query which test the codes recorded in patient records and check for membership in the appropriate subset or descendants of the subset members. E.g. patients with an associated finding that is referenced in the rare diseases reference set, or any subtypes of the concepts in the reference set.

    Maps to Statistical Classifications

    Specifying Queries for Retrieval and Analysis

    Categorizing Patients Using Subsets

    Categorization of Patient Data Using Subsumption Testing

    Data Analytics with SNOMED CT
    SNOMED CT Expression Constraint Language
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    Excerpt of mappings in the SNOMED CT International Edition
    Using reference sets for specifying queries
    Categorize patients using a simple reference set
    Categorizing patients using a simple reference set and subsumption testing

    Reference Set Development

    General Development Process

    The lifecycle of reference set work spans from the point where there is an initial idea related to a specific clinical information requirement based on SNOMED CT through reference set development to long term maintenance. At each stage it is essential that a defined process is followed which ensures the quality and validity of the product is maintained. The following figure provides an overview of the steps that are relevant to any project that either builds its own reference set, or adapts reference sets authored from elsewhere. The general process is similar to the process used when developing other information artefacts, and as for many development processes it is essential to be clear and specific about the requirements to be met, and to ensure that these requirements drive the design and implementation of the artefact. Related to reference set development this means that the process is not just about creating a reference set, but more about how to address the requirements, and this will often mean a combination of development of different reference sets.

    The overview provided in following diagram is not intended to imply that a waterfall methodology should be used to develop a reference set. It may be delivered using agile or iterative project methodologies, with the reference set and supporting project documentation evolving as the project develops.

    Reference set development process

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    Maintenance and Management

    Managing the components used to represent the large number of clinical data entries in EHRs is an important part of the work related to maintaining the integrity and accessibility of health information. Like SNOMED CT components, reference sets are supported by a robust versioning mechanism that allows historically consistent views of SNOMED CT components and derivatives. This allows reference sets to be used to specify changes in use of concepts and descriptions in different parts of an EHR.

    For more detailed use cases, please refer to the following examples:

    Constrain Value Sets

    Most health records are designed and developed using one or more information models, which describe the information that is collected, stored, communicated and displayed. Some information models are designed for a specific proprietary system, while others are based on a common health information standard. Irrespective of the purpose, design and representation of the information models, the use of clinical terminology is an important part of making the models complete, meaningful and useful. Hence, a consistent approach to the interface between structural elements and terminological representations of information is required to support reliable interpretation of the meaning. Subsets of SNOMED CT components can function as value sets for any health-related information model to enable well-defined, unambiguous models of meaning.

    As shown in the diagram below simple reference sets can be used to represent the subsets of SNOMED CT components to be populated as value sets within the relevant information models.

    EHR systems will typically utilize a range of different value sets to be used in different places of the system. Representing these value sets using the same terminology will support the comparison of data captured in different contexts. Additionally, using SNOMED CT to represent items value sets instead of locally defined terms enables effective management and overview of information, and helps to mitigate challenges related to redundancy and ambiguity.

    Simple reference sets can be used to represent extensionally defined subsets of SNOMED CT components, whereas the query specification reference set are useful for representing the intensional definition of SNOMED CT subsets. In the query specification reference set, the expression constraints can be used to represent the query used for defining the set. This means that the query specification reference set can be used to manage the intensional definition of SNOMED CT subsets that function as value sets, which is illustrated below.

    When a component that is a member of a reference set is inactivated, the person maintaining the reference set needs to decide whether a change is required. This depends on the intended use of the reference set being maintained. In the case of a reference set that is being used to constrain data entry, inactive concepts need to be removed from the reference set or replaced by an appropriate active concept. In other reference sets it may be permissible, or even required, to retain an inactive concept in a reference set (for example if a reference set is used in the criteria for a report which may be applied to historical data).

    The following figure and subsequent description introduce the overall process for identifying inactive components and using released reference sets to determine reasons for inactivation and potential replacements.

    1. One approach to identify the components that have been inactivated since the last release, is to compare snapshot of previous release with current delta release.

    2. The reasons for inactivation can be looked up in the 900000000000480006 | Attribute value type reference set| for the particular component type, for example the 900000000000489007 | Concept inactivation indicator attribute value reference set| . The reason is represented by the value of the valueId attribute. For further information, see .

    In the International Edition of SNOMED CT three reference sets of the type 900000000000480006 | Attribute value type reference set| are used to indicate the reason why components have been inactivated. These are:

    • 900000000000489007 | Concept inactivation indicator attribute value reference set (foundation metadata concept)|

    • 900000000000490003 | Description inactivation indicator attribute value reference set (foundation metadata concept)|

    • 900000000000547002 | Relationship inactivation indicator attribute value reference set (foundation metadata concept)|

    For example, if the inactivated component is marked as 900000000000484002 | Ambiguous| , this will typically mean that there will be more than one component replacing the inactivated component. The possible replacements will be available in the 900000000000523009 | POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)| .

    Another example is concepts that are inactivated because they were 900000000000482003 | Duplicate| . This is used if two concepts represent the same meaning, because then one of those concepts must be inactivated. The equivalent concept will be represented in the 900000000000527005 | SAME AS association reference set (foundation metadata concept)| . Please refer to to see which reference sets relate to the various reasons for inactivation.

    When a new version of SNOMED CT is released this may include changes to the content of the terminology. Components may have been added, inactivated or changed as described in . As part of the terminology maintenance process, it may be appropriate to evaluate both the and to determine appropriate alternatives.

    The International Edition of SNOMED CT distributes a set of reference sets that record the reason that each inactive component was inactivated. These are referred to as "historical association" reference sets. There is one historical association reference set for each type of historical association as shown in the table below.

    Table: Association reference set types in the International Release of SNOMED CT

    Association reference set
    Descriptions

    The following table holds example entries for the 900000000000526001 | Replaced by| reference set. With this reference set is possible to automatically identify that the inactive concept 696005 | Chronobiologic disorder| should be replaced with the concept 387605007 | Abnormal chronobiologic state| . This type of reference set is particularly useful for ensuring consistent use of SNOMED CT over time. The reference set mechanism here provides an easy and standardized way of managing changes to coding or documentation practice over time.

    Table: Sample content from 900000000000526001 | REPLACED BY association reference set |

    referencedComponentId
    referencedComponentId_term
    targetComponentId
    targetComponentId_term

    The possible replacements for the components that have been inactivated can be determined in the appropriate 900000000000522004
    |
    Historical association reference set
    |
    . For further information, see
    .
  • The preferred approach to manage inactivation of a component depends on the situation and the use of the reference set. However, a typical approach would be to update the reference set to apply the replacement concept instead of the inactivated concept. Please note, that some changes to the reference set may require additional updates to be performed to ensure correct use, see Managing Reference Set Changes.

  • 900000000000526001 | REPLACED BY association reference set|

    Applies to an erroneous, obsolete and other inactive component for which there is a single active replacement. The targetComponent identifies the active component that replaces this component.

    900000000000527005 | SAME AS association reference set|

    SAME AS association reference set

    900000000000528000 | WAS A association reference set|

    Links an inactive classification concept such as "not otherwise specified" or "otherwise specified" with the active concept that was formerly its most proximal supertype.

    900000000000529008 | SIMILAR TO association reference set|

    (not used currently)

    900000000000530003 | ALTERNATIVE association reference set|

    Links an inactive classification concept derived from ICD-9 Chapter XVI "Symptoms signs and ill-defined conditions" with the most similar active concept.

    900000000000531004 | REFERS TO concept association reference set|

    Applies to an inactive description which is inappropriate to the concept it is directly linked to but instead should refer to the concept referenced by the targetComponent.

    Salmonella III arizonae 53:k:z

    398450001

    Salmonella IIIb 53:k:z

    225005

    Special care of patient with contagious disease

    133895001

    Care of patient with infectious disease

    244003

    Evans and Lloyd-Thomas syndrome

    66659007

    Normal variation in position

    278009

    Epidural injection of neurolytic substance, lumbar

    17753007

    Epidural injection of neurolytic solution, lumbar

    558000

    Other disorder of the neurohypophysis, NEC

    72442006

    Disorder of posterior pituitary

    659001

    Peptostreptococcus anaerobius

    413524006

    Anaerococcus tretradius

    696005

    Chronobiologic disorder

    387605007

    Abnormal chronobiologic state

    700002

    Salmonella III arizonae 50:z4,z23,z32:--

    404619004

    Salmonella IIIa 50:z4,z23,z32:-

    822000

    Salmonella arizonae 53:z4,z23:--

    13998005

    Salmonella IV 53:z4,z23:--

    900000000000523009 | POSSIBLY EQUIVALENT TO association reference set|

    Applies to a concept that is ambiguous. The targetComponent is an active concept that represents one of the possible meanings of the inactive concept . Multiple rows are used to refer to each of the possible meanings of the ambiguous concept.

    900000000000524003 | MOVED TO association reference set|

    Applies to a component that has been moved to (or are pending a move to) another namespace. The targetComponent identifies the target namespace (not the new component).

    900000000000525002 | MOVED FROM association reference set|

    Applies to a component that has been moved to this namespace from another namespace. The targetComponent identifies the original componentIdentifier in its previous namespace.

    100005

    SNOMED RT Concept

    138875005

    SNOMED CT Concept

    Managing Value Sets

    Managing Component Inactivation

    Representing Reasons for Component Inactivation

    Representing Historical Associations

    Representing Reasons for Component Inactivation
    Representing Historical Associations
    Representing Reasons for Component Inactivation
    Provide Feedback
    Relation between SNOMED CT reference sets, value sets and information models
    Query specification reference set used for generating value sets for different organisational units
    Process of determine reasons for inactivation and alternative replacements

    212002

    Representing Historical Associations

    Requirements

    To decide if a reference set is needed, successful implementers of SNOMED CT must clearly understand their requirements.

    The table below shows some typical requirements that may be met using SNOMED CT reference sets. The examples in this table are not exhaustive, but instead illustrate common use cases in which the category of requirement is needed. The table also shows the type (or types) of reference set that best meets each requirement. For more information on each requirement category, please click on the diagram to visit the relevant section.

    Table: Requirements met by reference sets

    REQUIREMENTS
    EXAMPLE USE CASES
    REFERENCE SET

    A Subset of Components

    An Ordered List of Components

    A set of Associations between Components

    A set of Components Annotated with Additional Information

    When implementing SNOMED CT in a clinical software system, such as an EHR, the use of SNOMED CT will typically involve customization. For example, selecting a subset of SNOMED CT components to be used for a particular purpose is a typical way of customizing SNOMED CT for use. Subsets of SNOMED CT components can be used to constrain the use of SNOMED CT by either including, excluding or prioritizing specific components.

    An extensionally defined subset of components, whether it is a subset of concepts, descriptions or relationships, can be represented as a simple reference set.

    The definition of an intensionally defined subset of components can be represented using a query specification reference set, while its expansion can be represented using a simple reference set. A subset of components may be required to support a range of different uses, as illustrated in the table below.

    Table: Requirements for subsets of components

    Requirement
    Description
    Example uses
    Reference Set

    Subset of concepts

    An extensionally defined set of references to SNOMED CT concepts ------------------ An intensionally defined set of references to SNOMED CT concepts

    • Restricting searches to terms associated with specified concepts

    • Constraining data entry

    • Specifying value sets for particular data items

    Simple reference set -------------- Query specification reference set

    Subset of descriptions

    For more detailed use case examples, please refer to the following sections:

    • Constrain data entry

    • Constrain searches

    • Exclude content

    Organizing members of a subset into a specific order can be useful to meet certain implementation requirements, such as displaying drop down lists for data entry or search results. Members of a subset can be ordered in a variety of automated ways, including displaying the shortest term that matches the search term first, alphabetically, or randomly. However, when the required order cannot be automatically computed, it may be necessary to specify an order for each subset member. Ordered lists of SNOMED CT components (typically concepts or descriptions) can be represented using an Ordered Reference Set. For more information about ordering SNOMED CT components on a user interface, please refer to the SNOMED CT Search and Data Entry Guide.

    Table: Requirements for an ordered list of components

    Requirement
    Description
    Example Uses
    Reference Set

    An ordered list of descriptions

    A subset consisting of references to specific SNOMED CT descriptions, i.e. a set of SNOMED CT Identifiers, where each included member identifies a description. Additionally, each subset member is assigned a specific order, to enable ordering or prioritizing the members.

    • Presenting terms in an order that is rational or helpful for a particular purpose in user interface controls including:

      • Simple lists

      • Drop down lists

    Ordered Reference Set

    An ordered list of concepts

    For more detailed use case examples, please refer to the following sections:

    • Order Items for Search and Data Entry

    • Alternative Hierarchical View

    When SNOMED CT is implemented in electronic health records, there may be situations where explicitly stating associations between components can support effective and efficient use of SNOMED CT.

    In some situations, a set of unordered associations between components may be required. In other situations, an ordered list of directed associations between components may be needed. As illustrated in the table below, unordered associations can be represented using an association reference set, while an ordered list of directed associations can be represented using an ordered reference set. Associations can be specified between components of any type. However, associations are typically used to link concepts and/or descriptions.

    Table: Requirements for a set of associations between components

    Requirement
    Description
    Example Uses
    Reference Set

    A set of directed associations between components

    A set of directed associations between pairs of concepts

    A set of directed associations between pairs of descriptions

    • Grouping concepts together

      • For example, representing categories of concepts that are used for reporting

    • Historical associations between components

    Association Reference Set

    An ordered list of directed associations between components

    For more detailed use case examples, please refer to the following sections:

    • Use Case Specific Associations

    • Representing Historical Associations

    • Alternative Hierarchical View

    In some cases, an implementer may need to add additional information about each member of a subset. This information may be additional textual information or additional coded values.

    Annotating each member of a subset with additional information can facilitate the processing of subset members and assist in meeting the functional requirements of a system.

    Table: Requirements for a set of components annotated with additional information

    Requirement
    Description
    Example Use
    Reference Set

    A set of components with free text annotations

    A set of concepts, descriptions or relationships each annotated with a free text note

    Displaying a textual note for each concept in a list. For example, displaying an advisory note on how to request a particular procedure.

    Annotation reference set

    A set of components with coded annotations

    For more detailed use case examples, please refer to the following sections:

    • Linking concepts to web resources

    • Representing reasons for component inactivation

    • Indications of acceptability of descriptions

    A map is an association between codes from one code system and codes from another code system, that have the same (or similar) meaning. Mapping is the process of defining a set of maps. Maps are developed in accordance with a documented rationale, for a given purpose. As a result, there may be different maps between the same pair of concepts or terms to meet different use cases.

    The purpose of mapping between SNOMED CT and another code system is to provide a link between the code systems, to obtain a number of benefits. These may include:

    • Data reuse - for example, SNOMED CT based clinical data can be reused to report statistical and management information using an alternative classification system

    • Retaining the value of existing data when migrating to newer database formats and code systems

    • Avoiding the need to enter data multiple times and preventing the associated cost and potential errors

    • Promoting interoperability between terminologies, classifications and code systems

    Table: Requirements for a set of maps between SNOMED CT and another code system

    Requirement
    Description
    Example Use
    Reference Set

    An equivalence map

    A set of one-to-one bidirectional maps between SNOMED CT components and codes from another code system

    Mapping legacy codes to equivalent SNOMED CT concepts

    Simple map reference set

    A non-equivalence map

    Some situations may require sets of components to be implemented and managed. For example, when implementing a package of subsets.

    Table: Requirements for a set of sets of components

    Requirement
    Description
    Example Use
    Reference Set

    A set of sets of components

    A set of intensional subset definitions -------------------- A set of references to concepts that represent reference sets

    Managing the set of intensional subset definitions that are used within a particular system, organization, domain or message ------------------------------ Managing the set of reference sets that are used within a particular system, organization, domain or message

    Query specification reference set -------------------- Simple reference set

    For more detailed use case examples, please refer to the following sections:

    • Managing value sets

    • Constraining the coded content of messages

    Provide Feedback

    A Subset of Components

    An Ordered List of Components

    A Set of Associations between Components

    A Set of Components Annotated with Additional Information

    A Set of Maps between SNOMED CT and Another Code System

    A Set of Sets of Components

    Specifying queries for data retrieval
    Popup menus
  • Ordering search results

  • For example, associating inactive and active duplicate concepts

    • Linking Concepts to Web Resources

    • Link components to a textual advice

    Annotation Reference Set

    A set of Maps between SNOMED CT and Another Code System

    • Maps to Statistical Classifications

    • Link concepts to legacy codes and data, to support migration

    Simple Map Reference Set

    Complex and Extended Map from SNOMED CT Reference Sets

    A Set of Sets of Components

    • Managing Value Sets

    Simple Reference Set

    Query Specification Reference Set

    A set of references to SNOMED CT descriptions

    • Restricting searches to specified sets of terms

    • Specifying descriptions to appear in a list of options

    Simple reference set

    Inclusion/

    Exclusion of content

    A set which contains the components to be included/ excluded

    • Excluding particular components from search and/or data entry

    • Including a subset of concepts/descriptions for search, data entry, reporting etc.

    Simple reference set

    A subset consisting of references to specific SNOMED CT concepts, i.e. a set of SNOMED CT Identifiers. Additionally, each subset member is assigned a specific order, which enables prioritization.

    • Presenting concepts in an order that is rational or helpful for a particular purpose irrespective of the term displayed

    • Making it easier to find concepts that are most commonly used in a particular specialty, department or data entry scenario

    Ordered Reference Set

    An ordered list of directed associations between pairs of concepts or descriptions

    Defining alternative hierarchies for navigation and selection of concepts or descriptions. Examples include:

    • Ordering hierarchical lists of enumerated body structures such as fingers, vertebrae and cranial nerves

    • Organizing the display of diseases

    • Commonly seen in a particular specialty.

    Ordered Reference Set

    A set of concepts, descriptions or relationships each annotated with a reference to another component

    Marking each concept with a specific coded value to support automated processing of a list. For example, marking each inactive concept with a code that indicates the reason they were inactivated --------------------------------- Specifying whether descriptions are preferred or acceptable in a given dialect, care setting or clinical context.

    Attribute value reference set

    -------------- Language reference set

    A set of maps from SNOMED CT concepts to codes in another code system, where the map may include:

    • one-to-many or many-to-one maps

    • map groups

    • map rules

    • map advice

    ------------------------------

    A set of maps from another code system to SNOMED CT, where the map may include:

    • one-to-many or many-to-one maps

    • map groups

    • map rules

    • map advice

    Representing a map from SNOMED CT to a statistical classification

    ------------------ Representing a map from a statistical classification to SNOMED CT

    Complex and extended map reference sets ----------------- Complex and extended map reference sets

    Categorising patients using subsets
    Constrain value sets
    Constrain Value Sets
    Specifying Queries for Retrieval and Analysis
    Interface Terminology
    Simple Reference Set
    Order Items for Search and Data Entry
    Alternative Hierarchical View
    Ordered Reference Set
    Representing Historical Associations
    Use Case Specific Associations
    Association Reference Set

    SNOMED CT Reference Set Guide

    The SNOMED CT Practical Guide to Reference Sets starts by identifying practical use cases and the requirements that must be met to address them. It then explains how different types of reference sets can be used to meet those requirements. It also provides advice on different approaches to creating, editing, maintaining and using reference sets to support effective localization and customization of SNOMED CT.

    © Copyright 2026 International Health Terminology Standards Development Organisation, all rights reserved.

    This document is a publication of International Health Terminology Standards Development Organisation, trading as SNOMED International. SNOMED International owns and maintains SNOMED CT®.

    Any modification of this document (including without limitation the removal or modification of this notice) is prohibited without the express written permission of SNOMED International. This document may be subject to updates. Always use the latest version of this document published by SNOMED International. This can be viewed online and downloaded by following the links on the front page or cover of this document.

    SNOMED®, SNOMED CT® and IHTSDO® are registered trademarks of International Health Terminology Standards Development Organisation. SNOMED CT® licensing information is available at

    Provide Feedback

    Subsets, Value Sets and Reference Sets

    In this section, we define some important terms that are used throughout this guide. In particular, subset, value set and reference set.

    Subset and value set are general terms that are not specific to SNOMED CT. However, it is important to understand what they mean, and how they relate to SNOMED CT reference sets.

    In summary:

    • A subset is a set of members all of which are members of another set (from set theory in mathematics).

    A value set is a uniquely identifiable set of valid concept representations, where any concept representation can be tested to determine whether or not it is a member of the value set.

  • A reference set is a standard format for maintaining and distributing a set of references to SNOMED CT components.

  • In the following subsections, we describe each of these terms in more detail.

    Provide Feedback

    . For more information about SNOMED International and SNOMED International Membership, please refer to
    or contact us at
    .

    Introduction

    Subsets, Value Sets and Reference Sets

    Requirements and Use Cases

    Reference Set Design

    Reference Set Types

    Reference Set Development

    http://snomed.org/licensing
    http://www.snomed.org
    info@snomed.org

    Distribution

    Reference Sets can be distributed as part of the International Release, as part of a National Edition or as part of an Affiliate Edition, and the way the reference set is distributed will typically depend on how the Edition is distributed. However, in some situations, reference sets may be distributed independently.

    Distributing reference sets usually involves performing any additional quality checks required to ensure that the data can be exported correctly, and then exporting the reference set from the terminology management tool. Finally, the reference set is distributed to the users, for example as release files accessed from an online library using a terminology server API.

    Distribution Format

    The standard format for distributing SNOMED CT reference sets are the reference set format, as described in Common Reference Set Format. For example, an extensional definition of a subsets of components is represented as a simple reference set, and the standard format for distributing intensional definitions of concept subsets is as a query specification reference set. As part of the SNOMED CT release format, reference sets support unique identification, versioning and recognition of dependencies.

    Using the reference set format for distributing SNOMED CT derivatives is beneficial from the view of maintenance, because the versioning attributes is identical to the versioning attributes used for SNOMED CT components. This means that the checks that need to be done as part of a regular release cycle is easier to manage compared to having a range of different versioning mechanisms to adjust to.

    Other distribution formats may be used where necessary. For example to comply with requirements for representation of value sets including codes from other code systems. However, care should be taken to ensure that distributed subsets are uniquely identified and versioned. Subsets need to be accessed, selected and where appropriate bound to information models using standard approaches.

    Some subsets will be distributed biannually as part of the International Release. However, some others may not require this release schedule. Release processes must include a period of time dedicated to subset manipulation, following the 'freezing' of SNOMED CT itself. This is the period where all the changes has been made to the core components of SNOMED CT. Timing of release and distribution of specific subsets will be dictated by individual use case-specific requirements. These should be identified and documented initially as part of the subset development process. These may change over time based on user feedback.

    Value Set

    A value set is a uniquely identifiable set of valid concept representations, where any concept representation can be tested to determine whether or not it is a member of the value set.

    A value set is typically used to represent the possible values of a coded data element in an information model. The members of a value set may represent concepts using either simple codes or postcoordinated expressions.

    There are a number of use cases for value sets, including constraining the permitted values for elements in a communication specification, specifying the values in a pick list on a user interface and defining the required values to use for reporting. Value sets may range from a simple flat list of codes from a single code system, to an unbounded hierarchical set of post-coordinated expressions drawn from multiple code systems. Value sets containing only SNOMED CT components may be represented as SNOMED CT reference sets.

    For example, a message or reporting specification might define a single value set for a problem list, which includes:

    • SNOMED CT 64572001 | Disorder| concepts

    • SNOMED CT expressions that are subtypes of 64572001 | Disorder|

    • ICD-10 classification codes representing diseases

    The diagram below illustrates an example of an Observation model, which may be used to support diagnosis, monitor progress, determine patterns in clinical data, etc. Each data element in the information model is linked to a value set, which represents the value values for that element. As shown below, the value sets used in this information model may be selected from different code systems. In some cases, a single value set may also include concepts from different code systems.

    Appendix C: Videos

    This playlist brings together all videos on SNOMED CT subsets, value sets and reference sets from the SNOMED International Implementation Course. The videos introduce key concepts, practical implementation considerations, and real-world examples to help you understand how SNOMED CT subsets, value sets and reference sets can be applied in SNOMED CT implementations.

    Open playlist on YouTube:

    👉 Click here to view the full playlist on YouTube

    If you would like the full e-learning experience, you can enroll in the , which is self-paced and allows you to mix and match topics of interest. The course is free for participants from SNOMED International Member countries.

    How to navigate the playlist in GitBook

    When a YouTube playlist is embedded in GitBook, only one video is shown on the page at a time, but all playlist videos are still available.

    • Use the forward () and back () arrows on the video player to move between videos in the playlist

    Release Cycle

    Provide Feedback

    Value Set Example

    Provide Feedback
    Value sets used in an information model
    SNOMED CT Implementation Course

    Appendix B: Deprecated Reference Set Types

    This section contains information about reference set types that are now deprecated and replaced by enhanced reference set. The fact that a referenced set type is deprecated does not imply that reference sets of that type cannot be used. However, it does indicate that there is another reference set type that more effectively meets the use case(s) for which these reference sets were originally designed.

    Ordered Reference Set

    This reference set type has been deprecated in favour of two new reference set types. Please see following sections for introduction to the:

    The design of the ordered reference set supports three overall purposes:

    1. To specify a sequential order of a subset of components

    2. To specify prioritized groups within a subset of components

    3. To define alternative hierarchies of components

    Ordered reference set can also be used to create a simple ordered list of components, i.e. a list that do not include any nesting, or groups. For ordered lists that do not require grouping or hierarchical arrangement the value of linkedToId should be the digit zero (0), as this attribute becomes irrelevant.

    This type of ordered reference set can for example be used to prioritize the sort order of the descriptions with identical terms when they are displayed. It can also be used to specify the order of descriptions displayed in a simple pick list.

    Prioritization is similar to order but multiple components may have the same rank. In this case the value of the order attribute specify a priority order for a group of components.

    The diagram below Illustrates how the three attributes referencedComponentId, order and linkedToId are used to create an alternative hierarchical order of some of the concepts from the subtype hierarchy.

    Specific reference set attributes used to build an alternative hierarchical view of SNOMED CT

    Attribute
    Description

    900000000000516008 | Annotation type reference set| allows String to be associated with components for any specified purpose. So, where the 900000000000521006 | Association type reference set| linked a SNOMED CT component to another SNOMED CT components, the 900000000000516008 | Annotation type reference set| allow a SNOMED CT component to be linked to a non-standardized string annotation.

    \

    Besides from the 4 identification and versioning attributes, the annotation reference set type has following attributes.

    Field
    Data type
    Purpose

    Subset

    A subset is defined as a set of members all of which are members of another set (from set theory in mathematics).

    Notes

    • In SNOMED CT, the definition of subset applies to SNOMED CT components as follows:

      • A subset of SNOMED CT concepts is a set of concepts taken from a wider set of concepts.

      • A subset of SNOMED CT descriptions is a set of descriptions taken from a wider set of descriptions.

    • The members of a subset can be defined in one of two ways:

      • Extensionally, by enumeration, with a simple reference set as the standard distribution format.

      • Intensionally, using rules to determine inclusion, with a query reference set as the standard distribution format.

    The diagram below shows an example of a subset. The English vowels are a subset of the set of alphabet characters included in the English alphabet

    There are two distinct ways to define the membership of a subset. These are known as extensional and intensional subset definitions. These terms are defined and illustrated below.

    A subset in which the members are represented by enumeration.

    A subset definition in which the membership is represented by a set of rules specifying the conditions for inclusion.

    Extensionally defined subsets of SNOMED CT components consist of a list of SNOMED CT component identifiers, which are typically either concept or description identifiers. Extensionally defined SNOMED CT subsets are formally represented using the simple reference set type.

    The design of SNOMED CT lends itself to intensional subset definitions, because rules can be formulated to specify the conditions for member inclusion. The subtype hierarchy and formal definitions of SNOMED CT concepts enable constraints to be specified, such as:

    • Concepts that are descendants of a particular concept.

      • For example: < 118794001 | Procedure on lung| (i.e. all descendants of the concept 118794001 | Procedure on lung| )

    • Concepts that share a set of defining characteristics.

    Intensionally defined SNOMED CT subsets are formally represented using a . The query string in this reference set represents the intensional definition of the subset. The standard way of representing the query is using the SNOMED CT (ECL).

    The substrate is the superset of members to which an intensional subset definition is applied. Related to subsets of SNOMED CT components the 'Substrate' is the SNOMED CT content against which an intensional query is executed. Typically, the substrate is a specified version of a particular SNOMED CT Edition. Regardless of whether the subset members are intentionally defined or extensionally defined it is important to be specific about the substrate used to generate the subset, because the result of running a query, or manually selecting the subset members, may vary depending on the substrate used.

    The expansion is the result of applying an intensional definition to a given substrate. The Expansion may differ depending on the substrate that the query is run against. The expansion that results from running the query against a specific SNOMED CT substrate can be represented extensionally as a simple reference set. Alternatively, the expansion may be computed dynamically or represented in an internal format within a software application.

    For more information about the process and methods for developing subsets and reference sets, see the section about refset development.

    Appendix A: Overview of Reference Set Types

    Content Reference Sets

    Table: Overview of reference set types and example use cases, as described in the international Release of SNOMED CT

    Reference Set Type
    Description
    Example Use Cases

    Simple reference set

    Allows a set of components to be specified for inclusion or exclusion for a specified purpose

    Constrain values available in clinical data entry templates. (E.g. define pick lists, constrain searches etc.) Specify values accepted for communication purposes in specific elements in a communication message

    Table: Overview of reference set types and example use cases, as described in the international Release of SNOMED CT

    Reference Set Type
    Description
    Example Use Cases

    Reference Set Design

    The reference set mechanism is developed to support a range of different purposes, and therefore it has a high degree of flexibility and extensibility. As evidence of the flexibility in the design, some reference set types use a unique set of attributes in addition to the common reference set attributes. The additional attributes have been specified to meet the requirements for use of that particular type of reference set. The extendibility of the design allows reference sets to be customized to suite specific or local requirements. However, to support distribution, sharing and use of a reference set, it is important that the specific reference set design is consistently specified and represented. Thus, all attributes specific for a particular reference set type must be represented in a form which allows consumers of a reference set to validate and interpret the reference set.

    The figure below provides an overview of some of the terms that are central for understanding the reference set design and how reference sets are specified and represented . Each of these terms will be elaborated in the following pages.

    SNOMED International specifies a set of reference set types, which describes its own specific properties. This means that reference sets that are developed to conform to a specified pattern will have the same release file format as other reference sets of the same type.

    The pattern of a specific reference set type is described by a Descriptor Template. This means that the Descriptor Template is represented by a set of members of the 900000000000456007

  • For example: < 64572001 |Disorder| : 116676008 |Associated morphology| = 257552002 |Inflammation| (i.e. all disorders with an associated morphology of inflammation)

  • Concepts that are members of a particular subset AND share one or more defining characteristics.

    • For example: ^ 450984003 |Symptoms and signs reference set for GP/FP health issue| AND < 95324001 |Skin lesion| (i.e. all members of the 450984003 | Symptoms and signs reference set for GP/FP health issue| which are also descendants of 95324001 | Skin lesion| )

  • Subset Example

    Subset Definitions

    Extensional subset definition

    Intensional subset definition

    Extensional Definitions

    Intensional Definitions

    Substrate

    Expansion

    query specification reference set
    Expression Constraint Language
    Provide Feedback
    Subset example
    Illustration of an extensionally defined subset
    Illustration of intensionally defined subset
    Illustration of an extensionally defined subset of SNOMED CT concepts
    Illustration of a substrate, intentional subset definition and expansion

    Reference set descriptor reference set

    Represents the format of all reference sets included in a particular release

    Specify new, customized reference set formats to be used in an Extension

    Ordered reference set

    Allows a collection of components to be defined with a specified given a priority ordering

    Alternative navigation hierarchies. Specify a preferred order of concepts/descriptions in pick lists

    Attribute value reference set

    Allows a value from a specified range to be associated with a component

    This reference set type can be used for many different purposes that are related to both content and technical use cases. E.g. to specify why a concept or description has been inactivated

    Simple map reference set

    Allows representation of simple maps between SNOMED CT concepts and values in other code systems.

    Appropriate where there is a close "one-to-one" mapping between SNOMED CT concepts and coded values in another code system.

    Complex and Extended Map reference sets

    Allows representation of simple complex maps between SNOMED CT concepts and values in other code systems

    Enables representation of maps where each SNOMED CT concept may map to one or more codes in a target scheme, or where the correlation of each map should be specified

    Language reference set

    Supports the representation of language and dialects preferences for the use of particular descriptions

    Used to specify the acceptable and preferred terms for use within a particular country or region. Can also be used to represent preferences for use of descriptions in a more specific context such as a clinical specialty, organization or department

    Query specification reference set

    Allows a serialized query to represent the membership of a subset of SNOMED CT components

    Used to represent Intentional definitions of reference sets. Constrain values available in clinical data entry templates, as part of a terminology binding

    Annotation reference set

    Allows text strings to be associated with components for any specified purpose

    E.g. linking a SNOMED CT component to a url, e.g. for linking to a clinical guideline

    Association reference set

    Represents a set of unordered associations of a particular type between components

    Used to associate inactive concepts with active concepts that can serve as potential replacements for the inactivated concepts

    Module dependency reference set

    Represents dependencies between different SNOMED CT release modules

    The Module Dependency reference set is used to ensure that all dependencies are satisfied when importing data

    Description format reference set

    Specifies the text format and maximum length of each supported description type

    Reference Sets for Technical Use

    Provide Feedback

    Specify new, localized description formats to be used in an Extension

    referencedComponentId

    The identifier of a SNOMED CT component that is included in the ordered list of alternative hierarchy.

    order

    Specifies the sort order of the list. The list is ordered by applying an ascending sort of the order value. The value of order =1 represents the highest priority. A value of '0' is not allowed. Duplicate values are permitted and the sort order between two members with the same order value is not defined. If the linkedToId value is not 0, sorting occurs within subgroups that share the same linkedToId value.

    linkedToId

    The identifier of a SNOMED CT component that acts as a grouper or hierarchy node, collecting together a subgroup from within the list. This field either enables reference set member linked into a number of subgroups. These subgroups can be nested allowing representation of alternative hierarchies. To link members into a subgroup, all components in the same subgroup should reference the same component. This can either be a component that represents the name of that subgroup or the first member of the subgroup. In the latter case, the first row of each subgroup will contain the same identifier in referencedComponentId and linkedToId and with order =1. To link a number of children concepts to a single parent concept, one member record should exist per child, with the referencedComponentId field referencing the parent and this field referencing the child concept. The order field is then used to order the children concepts under the parent concept.

    referencedComponentId

    SCTID

    The identifier of the component to be annotated.

    annotation

    String

    The text annotation to attach to the component identified by referencedComponentId.

    Ordering

    Prioritization

    Alternative hierarchy

    Reference Set Specific Attributes

    Annotation Reference Set

    Reference Specific Attributes

    See specification: DEPRECATED: Annotation Reference Set

    Provide Feedback
    Ordered component reference set
    Ordered reference set with no groups
    Ordered reference set with prioritized groups
    Ordered reference set example.
    Ordered association reference set
    |
    Reference set descriptor reference set (foundation metadata concept)
    |
    .

    All Descriptor Templates present in the international Release of SNOMED CT can be found in the reference set Descriptor.

    All reference sets that are released as part of the International Edition or from a National Release Center will have an associated Descriptor Template for the reference set. Where using a reference set for which a Descriptor Template has not been created, and additional information about the reference set is needed, the Descriptor Template of the closest ancestor of the concept describing the reference set that does have a Descriptor Template may be used. This means that a reference sets with no specified Descriptor Template inherits the Template from its supertype.

    An organization that releases reference sets should only release them without Descriptor Templates if the reference set follows a predefined pattern or if it is sure that its consumers do not require the information held within the Descriptor Template. You should note that Descriptor Templates are optional for other organizations, besides from SNOMED International, that create reference sets that do not follow a predefined pattern. However, we strongly recommend to specify the reference set descriptor template in the reference set Descriptor, to support automatic processing, validation and sharing of the reference sets.The diagram below illustrates the different reference set types and highlight some of the specific reference sets that are included in the International Edition of SNOMED CT.

    Reference set types and reference sets included in the International Edition of SNOMED CT

    The 900000000000456007 | reference set descriptor reference set| is a reference set used to specify the format of all reference sets included in a release. The data type and meaning of the referenced component and each additional field within each reference set is described by this reference set. More specifically, the reference set descriptor is used to define:

    1. The order of appearance of additional attributes (other than those mandatory for all reference sets). The AttributeOrder attribute

    2. The name and purpose of the additional attributes. The attributeDescription attribute

    3. The data types for the additional attributes. The attributeType attribute

    The table below shows an excerpt from the Reference Set Descriptor, to illustrate how the attributes of the predefined reference set types are specified consistently.

    Table: Sample of the | reference set descriptor reference set (foundation metadata concept) | (human-readable view with some attributes omitted for brevity)

    ...
    referencedComponentId
    referencedComponentId_term
    attributeDescription
    attributeDescription_term
    attributeType
    attributeType_term
    attributeOrder

    When a new reference set is created in an extension, it must (by default) conform to the reference set descriptors of its closest supertype (if one exists). Creation of a description template for a new reference set is optional in an extension, if the reference set has a supertype which itself has a descriptor template.

    However, it is possible for a reference set to specialize the descriptor template of its supertype, by creating a copy and replacing the 900000000000458008 | Attribute description| or 900000000000459000 | Attribute type| values with a subtype.

    For example, if a reference set has a descriptor, in which the 900000000000458008 | Attribute description| = 449608002 | Referenced component| and the 900000000000459000 | Attribute type| = 900000000000460005 | Component type| , then the reference set's subtype may replace this descriptor with one in which the 900000000000458008 | Attribute description| = 900000000000460005 | Component type| and the 900000000000459000 | Attribute type| = 900000000000461009 | Concept type component| (since 900000000000461009 | Concept type component| is a subtype of 900000000000460005 | Component type| ). In this way, the reference set descriptors may be specialized for use by the subtypes of the reference set.

    All reference set patterns provide general functionality which is enabled by the attributes and data type constraints specified for that particular pattern.

    For example, the general functionality of an association reference set is to represent a set of unordered associations of a particular type between SNOMED CT components. This general functionality may be sufficient to fulfill a range of different requirements. It may be used to associate inactive components with active concepts which can be used as suitable replacements for the inactive concept. This use may be important for maintenance when a single reference set is used in a range of locations, and it is required to ensure consistent use of alternatives when content is inactivated. Another use of the same pattern may be to associate findings and procedures, which enables a simple form of conditional documentation support, for example, when a particular finding has been recorded, these are the procedures which may be appropriate.

    Illustration of the general functionality and specific uses of selected types of reference sets

    When deciding what reference set to develop it is therefore important to be aware of what requirements there are for use of that particular reference set, in order to decide on a pattern, which reflect the general functionality that meet a specific usage.

    The name of a reference set pattern also reflects the general functionality of the pattern. reference sets that are developed following a specified pattern will be assigned a description including both a name describing that particular reference set and a term representing the pattern of the reference set. For further information, see Naming Conventions for Reference Sets.

    Reference sets are made available as release files that represent database tables. Each row of the table represents a member of the reference set. Each reference set member is represented using the set of attributes shown in the figure below. These common attributes include the four general identification and versioning attributes (shared with components) and two specific reference set attributes. This common set of attributes is sufficient to represent a versioned subset of SNOMED CT components.

    As mentioned earlier, reference sets are used for purposes that go beyond subset representation. Different types of reference set are defined for each specific purpose. The definition of each reference set type specifies additional attributes and the way these are used. In these cases, each reference set member is represented by the combination of the common and type specific attributes.

    Attributes used in all types of SNOMED CT reference sets

    The reference sets have the same four initial attributes as the content components concepts, descriptions and relationships. These attributes are used to support identification, versioning and modularization.

    Table: Overview and description of the general component attributes

    Attribute

    Description

    id

    The id attribute of the reference set uses the data type Universally Unique Identifier (UUID) to provide a globally unique identifier for each member of the reference set. This is different from the core Components of SNOMED CT, which use the data type SCTID. The UUIDs are 128-bit unsigned integers. Their unique values are generated by widely available algorithms and not part of the SCTID namespace. This avoids the need to track issuing of identifiers for thousands of reference set rows that are needed for some reference sets.

    effectiveTime

    The effectiveTime attribute uses the data type Time to specify the date on which the specific version of the component was released.

    active

    The active attribute uses the Boolean data type to specify whether or not the specific version of the component is active.

    The three attributes, id, effectiveTime and active are used together to version each component.

    There are also two attributes that are shared by all reference set types, but not with the content components (concepts, descriptions and relationships). These attributes are called the refsetId and the referencedComponentId.

    Table: Overview and description of the Specific reference set attributes. These attributes are present for all types of reference sets, but some reference sets have more attributes

    Attribute

    Description

    refsetId

    The refsetId uses a SCTID to identify the reference set. The attribute refers to a concept and the concept's associated descriptions names the reference set. The concept is also a subtype to the concept that represents the type of reference set. One example of concept referenced by the refsetId is the concept 447566000 which description | Virtual medicinal product simple reference set | is the name of the reference set.

    referencedComponentId

    The referencedComponentId identifies a component referenced by the reference set. A reference set of type represents a subset of SNOMED CT components. For this reference set type the referenced components are the subset members. One example of a component included in the 447566000 | Virtual medicinal product simple reference set| is | Warfarin sodium 5mg tablet |

    The two terms "reference set member" and "referenced component" are sometimes used interchangeably, but when working with reference sets it is important to be aware of the distinct meaning of both of these terms, which should not be confused.

    A reference set member is simply a single row in a specific reference set. Each member therefore includes the identifier of the member, the membership versioning information, the identifier of the component that is referenced by that row and all the other information that is recorded in a row of the reference set. In contrast, the 'referenced component' is the concept, description or relationship whose identifier appears in the referencedComponentId of the reference set.

    Table: The referenced component is the value of the referencedComponentId attribute

    Sample content from 447565001 | Virtual therapeutic moiety simple reference set|

    refsetId

    referencedComponentId (Referenced component)

    447565001 | Virtual therapeutic moiety simple reference set|

    211009 | Norethandrolone preparation|

    447565001 | Virtual therapeutic moiety simple reference set|

    302007 | Spiramycin|

    447565001 | Virtual therapeutic moiety simple reference set|

    449005 | Penicillin G procaine|

    For practical reasons, a reference set needs to be identified and named, so it can be referred to unambiguously. In a reference set, the reference set is identified by the refsetId attribute, which refers to a concept.

    This concept is a subtype of the concept 900000000000455006 | Reference set (foundation metadata concept)| .

    As for other all concepts in SNOMED CT, descriptions and relationships are added to enable human-readable representation of the concept, and to place the concept in the SNOMED CT hierarchy. The descriptions provide the name of the reference set, and the relationship refers to the concept representing the reference set type. This is illustrated in the diagram below where the concept with the id 49999999102 has the associated description "Infectious disease simple reference set", and the relationship places the concept as a subtype of the concept 446609009 | Simple type reference set (foundation metadata concept)| .

    Reference sets of a particular type are identified by concepts that are subtypes of the concept representing the reference set type.

    900000000000983016 900000000000983016 |Reference set| 446609009 |Simple type reference set| 447250001 |Complex map type reference set| 447258008 |Ordered type reference set| 609331003 |Extended map type reference set| 609430003 |Concept model reference set| 705109006 |Code to expression type reference set| 705111002 |Map correlation and origin type reference set| 723564002 |MRCM reference set| 733613001 |Intensional definition reference set| 733614007 |Expansion history reference set| 733618005 |Ordered association type reference set| 733619002 |Ordered component type reference set| 762676003 |OWL expression type reference set| 900000000000456007 |Reference set descriptor| 900000000000480006 |Attribute value type| 900000000000496009 |Simple map| 900000000000506000 |Language type| 900000000000512005 |Query specification type| 900000000000516008 |Annotation type| 900000000000521006 |Association type| 900000000000534007 |Module dependency| 900000000000538005 |Description format reference set|

    The organization responsible for creating the reference set may add intermediate subtype concepts of the reference set type concept to group together reference sets of that type for which they are responsible. For example, the simple reference sets created by the SNOMED International group responsible for General Practice / Family Practice reference sets are organized as shown below.

    2920887014 2920887014 |General Practice / Family Practice reference set| 450971007 |GP/FP reason for encounter reference set| 450974004 |Symptoms and signs reference set for GP/FP reason for encounter| 450976002 |Disorders and diseases reference set for GP/FP reason for encounter| 450977006 |Results reference set for GP/FP reason for encounter| 450978001 |Family history reference set for GP/FP reason for encounter| 450980007 |Allergies reference set for GP/FP reason for encounter| 450981006 |Adverse drug reactions reference set for GP/FP reason for encounter| 450982004 |Processes and procedures reference set for GP/FP reason for encounter| 450983009 |Social history reference set for GP/FP reason for encounter| 450973005 |GP/FP health issue reference set| 450984003 |Symptoms and signs reference set for GP/FP health issue| 450985002 |Disorders and diseases reference set for GP/FP health issue| 450986001 |Results reference set for GP/FP health issue| 450988000 |Family history reference set for GP/FP health issue| 450989008 |Allergies reference set for GP/FP health issue| 450990004 |Adverse drug reactions reference set for GP/FP health issue| 450991000 |Processes and procedures reference set for GP/FP health issue| 450992007 |Social history reference set for GP/FP health issue|

    SNOMED CT specifies a set of reference set types that follow specific patterns. However, different purposes and uses may impose different requirements. Therefore, flexibility is a core feature of the reference set mechanism. This flexibility is manifested by the fact that reference sets can be applied in ways that meet specific requirements; options include:

    Option
    Description

    Create reference set based on existing pattern

    Creating a simple reference set, an ordered reference set (or any other reference set) using the predefined pattern for this reference set type. Without modifying or constraining the structure of this pattern.

    Create reference set based on existing pattern, however constraining the datatypes of specific attributes

    Create a reference set using a predefined pattern, however specializing the descriptor template, by creating a copy and replacing the |Attribute description| or |Attribute type| values with a subtype.

    Customize reference set by defining a new reference set pattern

    Define a new reference set pattern based on new or existing reference set types, attributes, and attribute values. (Since you could use an existing type as a starting point.)

    This means that if the pattern of existing reference set types is not sufficient for local requirements, then new reference set patterns can be specified and included in a national or local SNOMED CT Extension.

    There might be situations where none of the defined reference set patterns are sufficient to fulfill the requirements for a specific use case for an implementing organization/project. In this case, it is possible to develop customized reference sets, which include the exact attributes necessary to meet the requirements.

    If an existing pattern almost meets the requirements a developing organization may want to simply add additional attributes to an existing reference set pattern. If none of the existing patterns can be adapted it is also possible to develop a new reference set pattern or a reference set that does not follow any specified pattern. The different approaches to customizing a reference set are illustrated in the figure below.

    When creating customized reference sets, it is important to ensure that the structure and content of the reference set can be automatically processed and validated. Therefore, customized reference sets should be clearly specified, which can be done specifying the reference set pattern in the reference set descriptor. Specifying customized reference sets in the reference set descriptor enables users of the reference set to validate any reference set of this particular pattern against the specified definition.

    Provide Feedback

    Reference Set Types and Descriptors

    Relation between reference set types and descriptor templates

    Reference Set Descriptor

    Specializing a Descriptor Template

    General Functionality and Specific Use

    Common Reference Set Format

    Identification and Versioning Attributes

    Specific Reference Set Attributes

    Reference Set Member and Referenced Component

    Reference Set Identification

    Pre-defined and Customized Reference Sets

    Customized Reference Sets

    Language and Dialect

    SNOMED CT is a multinational, multilingual terminology which enables the link between concepts and different linguistic representations. Hence, SNOMED CT has a built-in framework to manage different languages and dialects. Each concept, representing a clinical meaning, can be linked to descriptions, which express that particular meaning using different terms, languages or dialects. This means that descriptions can be added to SNOMED CT concepts and expressed in other languages than what is included in the International Edition. Often these additional descriptions are used in a national Extension of SNOMED CT.

    Consequently, one aspect of implementing and customizing SNOMED CT to meet specific user needs is to determine and specify preferences for the descriptions to be used, e.g. for display in an electronic health record or more generally, as preferences within a specific clinical domain or facility.

    In the International Edition of SNOMED CT are included which specifies the preferred and acceptable synonyms for each concept in both US english and GB english. However, language reference sets can also be developed and applied locally to specify what descriptions are preferred and acceptable in a given context. This means, that even within a single country, or a single hospital, different descriptions can be applied to meet the user preferences, even without relaxing the need for consistency and unambiguous concept definitions.

    For more detailed use case examples, please refer to the following sections:

    Use Cases

    The table below illustrates some of the use cases that SNOMED CT reference sets support. Furthermore, it includes some typical example uses for each use case, and presents the types of reference sets relevant to these example. You can click on the diagrams and the text to navigate to the subpage, which provides more information about each of the use cases, examples and reference sets. The examples shown in the table are not exhaustive. Instead, they illustrate some common scenarios for each type of reference set.

    Table: Reference set use cases

    USE CASE
    EXAMPLES
    REFERENCE SET
    When SNOMED CT is being used as an interface terminology, the preferred term for each concept should be used as the default for display on the user interface. Each concept may have a different preferred term in different languages, dialects, specialties or care settings, and so these can be configured for a specific clinical environment. Preferred terms and acceptable synonyms are defined in SNOMED CT using a language reference set, which references the subset of descriptions used in a given language, dialect, specialty or care setting. Two language references sets are distributed with the International Edition of SNOMED CT (for US-English and UK-English), and various member countries distribute their own national language reference sets. Additional language reference sets may be created at the regional, specialty, institute or software product level to truly customize the local user’s experience.

    The most common use case for language reference sets is to specify the acceptable and preferred terms for use within a particular country or region. As illustrated below, descriptions associated with a single SNOMED CT concept can be specified as a preferred or acceptable synonym.

    Language reference sets and its relation to Description files

    Using SNOMED CT at the user interface level can be accomplished in various ways using different types of reference sets. Approaches include:

    • Using SNOMED CT directly as interface terminology

      • using a simple reference set of descriptions used for display

      • using a language reference set which specifies preferred and acceptable synonyms

    • Using a separate interface terminology which is mapped to SNOMED CT

      • using a simple map reference set to represent the linkage between the interface terminology and SNOMED CT concepts.

    As SNOMED CT descriptions can be used directly as an interface terminology, subsets of SNOMED CT descriptions may be directly shown to a clinician at the user interface . These description subsets may be customized

    • for a specific language or dialect (such as Spanish or Australian English)

    • for a given clinical specialty (such as cardiology or oncology)

    • for a user type (such as a doctor, nurse or patient)

    • a care setting (such as an aged care home or a hospital inpatient ward) or

    • a specific document or field in a health record

    For each of these use cases, the set of acceptable terms and the preferred term for that clinical use can be identified. However, when searching SNOMED CT it is recommended that any term that is considered "acceptable" for use in a given context should be available to support searching for an appropriate concept, while the preferred term is often used to confirm the intended meaning of the selection.

    Representing a subset of descriptions can be done using a simple reference set, as illustrated in the diagram below. However, other types of reference set types may be feasible if additional features are required, such as specifying which descriptions are preferred or acceptable (language reference set), ordering or prioritizing the descriptions (ordered reference set), annotating the description with some textual information (annotation reference set) or associating the descriptions to other components (association reference set).

    Using a simple reference set of descriptions to specify terms for display.

    While a simple type reference set can be used for defining a subset of descriptions, a language reference set is designed to support indication of language and dialect preferences through the addition of the 'acceptability' attribute. This allows preferred and acceptable descriptions to be defined for any context of use, including within a particular country or region, within a clinical specialty or care setting, within an organization or department, or for a specific type of user.

    The table below shows an excerpt from two language reference sets, which are both distributed with the International release of SNOMED CT, i.e. the 900000000000509007 | United States of America English language reference set| and the 900000000000508004 | Great Britain English language reference set| . Both reference sets reference Descriptions available in the Description file in the International Edition.

    Table: Excerpt from the | United States of America English language reference set | and the | Great Britain English language reference set |, which are both distributed with the International release of SNOMED CT.

    id
    effective Time
    active
    moduleId
    moduleId_term
    refsetId
    refsetId_term
    referencedComponentId
    ReferencedComponentId_term
    acceptabilityId
    acceptabilityId_term

    The diagram below illustrate the use of language reference sets and show the relation between the language reference set and the description file. Even though three descriptions are specified for the same concept in the description file, the language reference set specifies which of these descriptions are preferred and acceptable within a given language, dialect or organization. If a description is not referenced in the language reference set, then that particular description can be regarded as not acceptable within the context where the language reference set apply.

    Use of language reference sets to specify preferred and acceptable descriptions for specific contexts.

    The benefits of directly using the terms from SNOMED CT on the user interface are that

    • no mapping is required from the clinical phrases to the clinical meanings. The design of SNOMED CT already include human-readable representations of concepts

    • the clinical intent of a selection can be confirmed if required using other terms linked to the same concept (such as the ‘Preferred Term’)

    • the equivalence of the terms to the clinical meaning is ensured by using quality authoring processes

    • the higher quality of SNOMED CT coding can consequently lead to higher quality analytics results

    • there are standard mechanisms provided by SNOMED CT for distinguishing acceptable and preferred terms in different clinical contexts

    • where appropriate, the standardization of preferred terms can improve patient safety (in areas such as medication management)

    • This approach may require a transition of the user experience. However, it should be noted that new descriptions may be added to SNOMED CT to meet the expectations of the users.

    • Subsets need to be created and maintained to support users in searching for and recording the appropriate SNOMED CT concepts.

    An implementer who is motivated to introduce SNOMED CT records, but who is also keen to keep using an existing interface terminology, may choose to map between the interface terminology and SNOMED CT to enable that SNOMED CT is used for storage. Using this approach each item in the interface terminology is bound (or mapped) to an appropriate SNOMED CT concept. When the interface term is selected, the identifier of the bound SNOMED CT concept is stored in the record. It is important when an interface terminology is being used that the mapping to SNOMED CT is of sufficient quality (ideally equivalent) to support the use cases for which the data will be used. Using an interface terminology, for example, may be useful for structured data entry, where only part of the meaning is represented by the selected term, and the rest by the surrounding interface context. A simple map reference set can be used to represent the map between the interface terminology and SNOMED CT, in the case where there are a 1:1 map between each term in the interface terminology and SNOMED CT concepts.

    Provide Feedback

    Indications of Acceptability of Descriptions

    language reference sets

    Interface Terminology

    Using SNOMED CT as an Interface Terminology

    Simple Reference Set of Descriptions

    Language Reference Set

    Benefits of using SNOMED CT as Interface Terminology

    Considerations

    Using a Separate Interface Terminology

    • Linking concepts to textual information

    Simple map reference set (specification)

    Complex and extended map reference set (specification)

    Provide Feedback

    446609009

    Simple type reference set

    449608002

    Referenced component

    900000000000461000

    Concept type component

    0

    447258008

    Ordered type reference set

    449608002

    Referenced component

    900000000000460000

    Component type

    0

    447258008

    Ordered type reference set

    447255006

    Priority order reference set attribute

    900000000000478000

    Unsigned integer

    1

    447258008

    Ordered type reference set

    447257003

    "Linked to" reference set attribute

    900000000000460000

    Component type

    2

    900000000000480006

    Attribute value type

    449608002

    Referenced component

    900000000000460000

    Component type

    0

    900000000000480006

    Attribute value type

    900000000000491004

    Attribute value

    900000000000461000

    Concept type component

    1

    900000000000496009

    Simple map

    900000000000500006

    Map source concept

    900000000000461000

    Concept type component

    0

    900000000000496009

    Simple map

    900000000000499002

    Scheme value

    900000000000465000

    String

    1

    900000000000506000

    Language type

    900000000000510002

    Description in dialect

    900000000000462000

    Description type component

    0

    900000000000506000

    Language type

    900000000000511003

    Acceptability

    900000000000461000

    Concept type component

    1

    900000000000512005

    Query specification type reference set

    900000000000514006

    Generated reference set

    900000000000461000

    Concept type component

    0

    900000000000512005

    Query specification type reference set

    900000000000515007

    Query

    900000000000465000

    String

    1

    900000000000516008

    Annotation type

    900000000000518009

    Annotated component

    900000000000461000

    Concept type component

    0

    900000000000516008

    Annotation type

    900000000000519001

    Annotation

    900000000000465000

    String

    1

    900000000000521006

    Association type

    900000000000532006

    Association source component

    900000000000460000

    Component type

    0

    900000000000521006

    Association type

    900000000000533001

    Association target component

    900000000000460000

    Component type

    1

    moduleId

    The moduleId attribute identifies the module in which the component is currently being maintained.

    447565001 | Virtual therapeutic moiety simple reference set|

    544002 | Melphalan|

    447565001 | Virtual therapeutic moiety simple reference set|

    669007 | Vaccinia virus vaccine|

    447565001 | Virtual therapeutic moiety simple reference set|

    796001 | Digoxin|

    447565001 | Virtual therapeutic moiety simple reference set|

    847003 | D-thyroxine preparation|

    447565001 | Virtual therapeutic moiety simple reference set|

    922004 | Pralidoxime|

    447565001 | Virtual therapeutic moiety simple reference set|

    1039008 | Mercaptopurine|

    447565001 | Virtual therapeutic moiety simple reference set|

    1148001 | Ticarcillin|

    simple reference set

    …

    20160731

    1

    900000000000207008

    SNOMED CT core module

    900000000000509007

    United States of America English language reference set

    132967011

    Appendectomy

    900000000000548007

    Preferred

    …

    20160731

    1

    900000000000207008

    SNOMED CT core module

    900000000000509007

    United States of America English language reference set

    132972019

    Excision of appendix

    900000000000549004

    Acceptable

    …

    20160731

    1

    900000000000207008

    SNOMED CT core module

    900000000000508004

    Great Britain English language reference set

    132972019

    Excision of appendix

    900000000000549004

    Acceptable

    …

    20160731

    1

    900000000000207008

    SNOMED CT core module

    900000000000508004

    Great Britain English language reference set

    132973012

    Appendicectomy

    900000000000548007

    Preferred

    Order items for search and data entry
  • Display alternative hierarchy for navigation

  • Specify preferred descriptions for display

  • Search and Data Entry
    Constrain searches
    Constrain data entry
    Exclude content
    Simple reference set
    Query specification reference set
    Ordered reference set
    Language reference set
    Query specification reference set
    Knowledge Linkage
    Linking concepts to web resources
    Annotation reference set
    Reporting and Analytics
    Specifying queries
    Link to statistical classifications
    Simple reference set
    Query specification reference set
    Communication
    Constraining the coded content of messages
    Simple reference set
    Query specification reference sets
    Language and Dialect
    Indications of acceptability of descriptions
    Language reference set
    Simple reference set
    Maintenance and Management
    Consistent replacements of inactive components
    Managing value sets
    Association reference set
    Attribute value reference set
    Association reference set

    Knowledge Linkage

    Linking SNOMED CT components to knowledge resources (such as clinical guidelines or decision support systems) is a way of adding significant value to electronic health records.

    The diagram below illustrates the range of use cases for knowledge linkage including presenting alerts to the user, displaying relevant clinical guidelines and treatment protocols, or automatically populating an order, message or report.

    Components annotated with additional information can support different levels of knowledge linkage

    Reference sets can be used to enable knowledge linkage in different ways. Examples include but are not limited to:

    • Annotation reference sets can be used to add a linkage between a referenced component and a string-representation of a specific knowledge resources.

    • Association reference sets can be used to create associations between SNOMED CT components to enable documentation and/or decision support, using the associations as a simple rule-representation.

    • Simple map reference sets, complex and extended map reference sets can be used to define maps from other code systems to SNOMED CT, and function as a linkage to sources of non SNOMED CT-encoded information

    For a more detailed use case, please refer to the following example about linking concepts to web resources:

    In the example below URLs are used to annotate two SNOMED CT concepts with images on the web. It is not recommended to use this approach to annotate concepts with text that may require translation to other languages. Instead, such text should be included under an appropriate description type within the Description file. However, in some cases this type of reference set can be useful to link concepts or descriptions to specific guidance documents or other types of knowledge resources.

    Table: Example of an associated image annotation reference set

    refsetId
    referencedComponentId
    Annotation

    900000000000517004 | Associated image|

    80891009 | Heart structure|

    http://en.wikipedia.org/wiki/Heart#mediaviewer/-File:Wiki_Heart_Antomy_Ties_van_Brussel.jpg

    900000000000517004 | Associated image|

    86174004 | Laparoscope|

    http://www.mdguidelines.com/images/Illustrations/laparosc.jpg

    Linking Concepts to Web Resources

    Provide Feedback

    Design and Planning

    Careful planning in the initial stage is crucial for successful completion of the reference set development and onwards use of the reference set. Following considerations should be included in any reference set development process.

    Table: Considerations important when designing the reference set and planning the development process

    Topic
    Description

    Resources

    Determine the resources available for developing and maintenance of the reference set.

    As part of the design and planning of a new reference set may it may be enumerative to look at reference sets developed by other organisations. Existing reference sets may be useful for inspiration or they may be sufficient for either adoption or adaption. In either case exploring existing reference sets and evaluate whether these reference sets meet the requirements identified for this particular reference set should be considered.

    In order to be able to adopt or adapt an existing reference set, you need to know what reference sets already exist. As there is no common library of SNOMED CT reference sets an authoring organization should apply alternative search strategies to explore what reference sets has already been developed.

    Table: Overview of potential sources of reference sets that can be approached when seeking for existing reference sets

    Potential Source
    Description

    To determine whether a reference set is useful either to adopt or to build from, there is a range of parameters which can be assessed to determine whether a reference set is fit for the purpose or requirements that the developing organization have. The following diagram illustrates some of the central aspects that must be assessed when evaluating an existing reference set.

    Firstly, the basic parameters of the existing reference set should be compared with the actual needs related to use of the new reference set. The following table provides an overview of some of the basic parameters, which should be assessed when starting to evaluate an existing reference set. Having assessed these basic parameters, it will be possible to determine whether an existing reference set is sufficient for further inspection, or whether it should be rejected as candidate source for a new reference set.

    Table: Overview of basic reference set parameters relevant for evaluating reference sets

    Parameter
    Description

    Having compared the more basic parameters it is also important to Inspect the specific content of the existing reference set to determine the appropriateness of this to fulfill the requirements that an organization have. The following table provides an overview of typical parameters to be inspected when evaluating the content of an existing reference set.

    Table: Overview of typical aspects, which should be inspected when evaluating an existing reference set

    Parameter
    Description

    In the stage of planning and designing a reference set, the use of the reference set should be carefully analyzed. Specifically, it should be analyzed how the reference set is going to function with surrounding information models or software artefacts.

    Bounded reference sets are designed to be used together with a specific information model. For example, if a reference set is developed as a value set for recording the smoking status in a specific software system, like shown in the example illustrated below.

    When a reference set is bound to a specific information model, it is important to carefully consider how the binding affect the reference set members. So, for bounded reference sets it is important to clearly specify the relationship between the reference set and the associated information model to guide users, and to ensure correct interpretation of data, when data is subsequently retrieved for purposes such as display, analytics and communication.

    Table: Questions to consider for bounded reference sets

    Question
    Examples

    Unbounded reference sets mean that the reference set is designed to be applicable to multiple use cases, organisations or systems. An example is the SNOMED CT to ICD-10 map, which is released with the International Edition of SNOMED CT, and hence, available for use by any of the Members and affiliates. It may also be reference sets developed in a Member country to be used by all cardiovascular surgery departments in that country for reporting the procedures done and the procedure outcome. Such reference sets is distributed together with a National Edition of SNOMED CT.

    For unbounded reference sets it is important for consistent and proper use to clearly specify the purpose and use of the reference set. Therefore, written specification and guidelines should be developed and distributed together with the reference set, to ensure that users of the reference set know how to implement and use the reference set.


    Web-based search

    It may be useful to run a broad search on SNOMED CT reference sets or subsets using some of the great, commercial and non-topic specific search engines. This approach may result in identifying SNOMED CT subsets that use an alternative representation than the reference set format, or identifying clinical guidelines or recommendations that can help to specify the requirements for the content of the reference set. So, this approach is typically useful for getting inspiration to the content of the reference set to be developed.

    Health IT vendors

    It may very well be useful to explore what Terminology products and services are provided by Heath IT vendors. Providers of terminology servers and services may also have access to specific reference sets.

    Hierarchy coverage

    It should be assessed whether the components referenced in the existing reference set represents concepts within hierarchies required for the new reference set. E.g. an existing reference set should be rejected if it references concepts within the Procedure hierarchy and the new reference set is to be used for recording evaluation results, i.e. concepts/descriptions of clinical findings concepts.

    False negatives

    Inspect to seek out what is desirable to include, but is likely to be missing in the existing reference set. E.g. there might be requirements which reflect local needs or practices, which cannot be expected to be included in reference sets developed by another organization or in another context.

    Edge cases

    Seek out ‘Edge cases’ present as needed, absent as needed

    Dependencies

    Dependencies of the reference set

    • What module and release of SNOMED CT is the reference set dependent on?

    • What other terminology and/or software artefact should the reference set function with? (see section on Reference Sets and Information Models)

    Reference set type

    What type of reference set is required?

    • Is one of the existing reference set patterns sufficient?

    • Should a customized reference set be specified, and if so what additional attributes should be included?

    People

    Developing a new reference set requires a broad skillset, so it should be determined who will develop the reference set. Each of the steps related to developing reference sets can involve a range of people in different roles, a number of interdependent activities and a suite of related documents and artifacts. It is important to understand the characteristics of the people involved and their roles across the stages in the reference set lifecycle.

    • Some of the important skills required when developing reference sets include:

      • clinical insight. To know what content is relevant for the specific purpose.

      • sufficient knowledge on SNOMED CT. To support correct use of SNOMED CT, for example selection of appropriate concepts or defining the correct query.

      • knowledge about the technical environment where the subset is going to function. In order to ensure an appropriate representation of the subset to be integrated in an IT-system.

    Development approach and methods

    What approach should be taken to develop the reference set?

    • Does any existing reference set meet the requirements for this new reference set or is there a need to build a new reference set from scratch? (see section on Exploring and Evaluating Reference Sets)

    Tools

    What tools should be used to support reference set development, distribution and maintenance process? There will be a suite of tools provided which can support the creation and management of reference sets, including tools for:

    • Selection of reference set members, or definition of the query needed to retrieve reference members. Such tool will typically allow collaborative approaches to be pursued.

    • Support review by subject matter experts and others involved with creation and quality assurance

    • Managing requests for change through a reporting mechanism that will allow potential changes to the reference set to be identified.

    • Updating the reference set, e.g. when changes has been requested, or when new releases of the Editions on which the reference set is dependent upon is freed.

      • SNOMED International provides a range of services and tools to support working with SNOMED CT, and the suite of services continue to grow. Specifically, the SNOMED International reference set management tool, which is useful the creation and management of both intensionally and extensionally defined subsets.

    Timeline

    Determine when the reference set should be ready for routine use, i.e. schedule deadlines for the difference phases of the development process.

    Quality assurance

    What level of quality is required for the reference set? E.g. is the reference set used to represent safety critical information for patients, or is the reference set used to form broader categories of patient groups. It should be determined how the required level of quality is obtained and ensured throughout the development process.

    Distribution

    How will the reference set be distributed? Answering this question will depend very much on who the authors of the reference set is and where the reference set going to be used. If the reference set is used as a national reference set, i.e. a reference set which is used across a range of hospitals or organizations, distribution is likely to be done via a central service. Locally defined reference sets, e.g. used as part of configuring an EHR is likely to be managed and distributed from a local terminology storage environment and integrated directly to the system.

    Integration

    How, who and when to integrate the reference set into the environment where it is going to function? Decide on an approach to integration and determine what bindings and/or integration tasks to be performed.

    Maintenance

    Will new versions of the reference set be integrated regularly or as in integrated part of a greater maintenance process together with other software/terminology artefacts?

    SNOMED International Browser

    The online browser provide access to the International release of SNOMED CT and a range of national Editions, including reference sets defined within these Editions. The available reference sets should be represented as foundation metadata concepts and present as descendants of the concept 900000000000455006

    National Release Centers

    reference sets which are not included as national Extensions to SNOMED CT may also be acquired from the National Release Center. Each SNOMED CT Member has a National Release Center and information about these is provided by SNOMED International website, http://www.snomed.org/members/.

    Personal networks/-Community of Practice

    Explore your personal SNOMED CT network or the community of practice. The website www.snomed.org/snomed-in-action provides access to information about existing SNOMED CT implementation initiatives. Some of these includes development and implementation of reference sets or subsets, so this is also a useful starting point for further exploration. Furthermore, attending the SNOMED Expo will also allow you to meet with persons directly involved with reference set development. You can find information about this event via SNOMED International website: https://www.snomed.org/events

    Type of reference set

    It should be assessed whether the functionality of the existing reference set also meet the requirements for functionality that the seeking organization have.

    The number of members

    The numbers of members of the existing reference set should be compared to the required number of members in the new reference set. E.g. a reference set representing a very large subset of components may be rejected if the need is a subset to capture the overall categories (body sites) of information collected during a physical examination.

    Extension content included

    It should be assessed whether the existing reference set is dependent on any other Edition than the International Edition. And if so, the existing reference set can only be adopted if it belongs to an Extension on which the developing/seeking organization also depends upon.

    False positives

    Assess whether any of the components referenced in the existing reference set is inappropriate for the context of the new reference set and therefore should be excluded.

    Level of specificity

    Assess whether the components referenced in the existing reference set are at a sufficient level of specificity, e.g. assess whether concepts are too granular or too less granular to fulfill the requirements setup for the reference set.

    “Oddness” of any type

    Assess whether the coverage of the existing reference set meets immediate expectations. There might be outliers or content from other hierarchies than the primary domain for this reference set, which seems odd and therefore needs to be excluded.

    Does the binding modify the default context of the SNOMED CT concept used?

    Negation or uncertainty

    • if a procedure concept is marked as planned

    • if a clinical finding is marked as absent

    Subject

    • if a clinical finding or a procedure is recorded in the context of a family member, or another subject, not being the subject of record

    What information model parts and related codes should be included when interpreting the meaning of data?

    Different parts of the information model can be bound to SNOMED CT to express the meaning of the specific information model part. The Model as a whole, a group of data elements and each single data element can be bound to SNOMED CT. Dependent of which part of the model is bound to SNOMED CT, different methods are applied.

    • Model (model meaning binding)

    • Data group (Concept domain model meaning binding)

    • Data element (value set binding)

    Exploring and Evaluating Reference Sets

    Discover Existing Reference Sets

    Evaluate Reference Sets

    Compare basic parameters

    Inspect the Content of the Reference Set

    Reference Sets and Information Models

    Bounded Reference sets

    Unbounded Reference Sets

    Provide Feedback
    Exploring existing reference sets
    Figure 6.2.2-1: Some reference sets are designed to be bound for particular information models
    Unbounded reference sets are designed to be applicable to multiple use cases, organisations or systems

    Development

    In this part topics related to the actual reference set development process are presented.

    As part of developing a new reference set it should be created and identified as part of the Edition that it belongs to.

    When creating a new reference set, the organization developing the reference set will need access to a namespace in order to generate SCTIds. Within their namespace, a moduleId concept (with an FSN and Preferred Term) should be added, placed in the 900000000000443000 | Module (core metadata concept)| subhierarchy within the metadata, for each authoring organization.

    To specify any reference set it is necessary to identify the reference set by creating a concept and name the reference set by associated descriptions. The concepts should be a subtype of the relevant reference set type concept in the foundation metadata hierarchy. This could for example be as a descendant of the 446609009 | Simple type reference set (foundation metadata concept)| , or the 900000000000512005 | Query specification type reference set (foundation metadata concept)| . The latter is used for intensional reference set definitions. Following table shows the steps to follow when creating a new reference set.

    Authoring reference sets in an extension may involve creating a new reference set, inactivating a reference set or modifying a reference set. Additionally, reference set members may also be added, modified or inactivated in an extension.

    The sections that follow will examine the purpose, principles and process for each of these authoring tasks.

    Authoring Reference Sets

    • Create a New Reference Set

    • Modify a Reference Set

    • End Support for a Reference Set

    Authoring Reference Set Members

    • Add Members to a Reference Set

    • Modify Members of a Reference Set

    • Remove Members from a Reference Set

    When creating a new reference set it is important that the reference set metadata concept (which identifies and names the reference set) and the associated reference set members belongs to a module of the reference set producer. I.e. if a reference set is created as part of an extension, the reference set metadata concept should belong to a module within the namespace of the extension producer.

    All reference sets follow a logical model. Each reference set type is represented by a specific data structure which enables a specific functionality. SNOMED International specifies a set of reference set types, which can be used to support a set of terminology management purposes. SNOMED CT Members (National Release Centers) and Affiliates may also create reference sets to assist with localization and effective implementation of SNOMED CT. In general, an extension producer can create a reference set within their extension, but the reference set type should be defined in either

      • The producers extension

      • The International Edition

      • Other extensions (which the producers extension modules are dependent on)

    For more information about the different reference set types and their data structures, please refer to the reference set release file specification.

    Please note that for all reference sets, there should be guidance on what is possible and what is not possible. For some International reference sets, it is acceptable and even required to add extension rows to the International reference set. For example, the Module Dependency Refset, the MRCM Module Scope Refset, and Language Refset. This is not necessarily applicable to all reference sets. Over time, further guidance in this area will be developed.

    The table below provides a summary of the process to follow when creating a new reference set.

    Define the reference set in the metadata hierarchy

    The following steps should be taken for creating the reference set concept:

    File Type
    Process

    Concept file

    1. Create a concept for the reference set

    Description file

    1. Add up to three Descriptions for the reference set concept. I.e. the FSN, the Preferred Term and optionally the purpose, see

    Language reference set

    1. Specify the acceptability of the descriptions in the applied Language Reference Set

    Define the reference set Attributes within the metadata hierarchy

    Add new concepts for each of the reference set member attributes, if necessary. If the reference set attributes describing the pattern are adequate to describe the reference set's attributes, then these can be used instead. You may add new concepts for some of the attributes, and reuse existing concepts for other attributes, if you wish.

    Following steps should be taken for each attribute that you wish to create:

    File Type
    Process

    Concept

    1. Add a concept for the attribute

    Description

    1. Add Descriptions for each of the new attribute.

    Language Reference Set

    1. Specify the acceptability of the descriptions in the applied Language Reference Set

    Create the Descriptor for the reference set

    If the reference set does not follow an existing reference set pattern, the additional attributes specific for this customized reference set should be included in the Descriptor reference set.

    Reference Set Descriptor Reference Set

    A new reference set member is created in the reference set Descriptor for each attribute in the reference set pattern. For guidance on creating a reference set member, please see . For further introduction to the reference set Descriptor, please see .

    Add members to the reference set

    Reference set members are added to the reference set, which includes specifying the attribute values for each reference set member, see Add Members to a Reference Set.

    Principles for modifying reference sets include:

    • Reference sets can be modified by changing the value of the active attribute or the value of the moduleId attribute, i.e. for activating or inactivating the reference set, or moving the reference set to another module (a module on which the current module depends).

      • The reference set metadata concept is always primitive and the concept can therefore not be changed from primitive to fully defined, or from fully defined to primitive, i.e. the value of the definitionStatusId attribute should be primitive for all versions of the reference set

    • The reference set type should not be changed, i.e. the |is a| relationship, linking the reference set to the appropriate reference set type concept should not be changed

      • The only situation where the the reference set type may change is if the reference set was originally misplaced in the SNOMED CT hierarchy.

    • If the reference set needs to be changed to a different type, (for example, from a simple reference set to an ordered component type reference set) then it would require the original reference set to be inactivated and a new reference set to be created in accordance with the Descriptor for that reference set type.

    • Reference sets that belong to a module which is not managed by the extension producer should not be modified.

    Modifying a reference set created within the extension module

    The process for modifying the reference set concept, is similar to the general process for modifying concepts in SNOMED CT. Therefore, please refer to for further guidance.

    When the owner of a reference set wants to end support for the reference set, this should be indicated by making the changes described in the process section below.

    In the situation where the reference set belongs to an extension, the owner of the extension may only make these changes to a reference set that is currently in an extension module for which it is responsible. The exception to that rule is that, in the case where a responsibility for maintenance of a reference set is transferred to another organization, the organization to which responsibility is transferred is required to take some of these steps.

    Prior to ending support for a reference set, it is important that the reference set producer has an overview of the extent to which the reference set is used. If a producer and owner of a reference set continues to distribute an unsupported reference set with active members, there is an inherent risk that it will continue to be used. However, deprecation formally inactivates the references set members to mim this possibility.

    The table below provides details and considerations on the process of inactivating a reference set.

    Reason for Ending Support

    Organization responsible currently responsible for the reference set

    Organization accepting transfer of responsibility for the reference set

    Transfer of responsibility for maintenance to an organization that is responsible for a module on which the current module depends

    1. Request the newly responsible organization to issue new versions of the reference set concept, metadata and active reference set members using the same identifiers but changing the moduleId to refer to the module in which the reference set is now being maintained.

    2. Inform users that the reference set is now being maintained by another organization.

    3. Do not inactivate or otherwise alter any of the existing concepts or reference set members.

    1. Create new versions of the reference set concept and related metadata. The new versions of components must have the updated effectiveTime for the relevant release date and the moduleId of the module in which the reference set will now be maintained. However, the id and all other fields must have the same values as in the original versions.

    2. Create new versions of all active members from of the reference set. The new versions of references set members must an updated effectiveTime for the relevant release date and the moduleId of the module in which the reference set will now be maintained. However, the id, refsetId and all other fields must have the same values as in the original versions.

    Transfer of responsibility for maintenance to an organization that is not responsible a module on which the current module depends

    1. Request the newly responsible organization to create and maintain a new reference set in their own extension module. The newly created reference set concept and metadata should replicate the and includes all all the members of the original reference set that were active immediately prior to deprecation.

    2. Inactivate the original reference set concept and metadata following the process described in .

    3. Inactivate all the members of the original reference set following the process described in .

    If the extension producer wants to avoid users from needing to import a deprecated or transferred reference set in future releases, the inactivated reference set may be separated from the main extension release (e.g. it could be in a separate release package, or accessible via a separate service or from a static location). Changes in packaging must be formally notified to users of the extension in advance of the change.

    Specifying members of a reference set can be done in different ways. It will depend on the requirements for the reference set what approach is feasible and possible. Please refer to the Development Approaches and Development Methods sections for detailed instructions on the approaches and methods for identifying the SNOMED CT components that will be referenced by the members of the reference set.

    However, each reference set member will be represented in the reference set in accordance with the following principles and process.

    Reference set members may be added to reference sets belonging to modules in

    • The producers extension

    • The International Edition

    • Other extensions (which the producers extension modules are dependent on)

    Reference set members created in the extension should be created within the module of the extension producer, so that it is possible to distinguish the reference set members created within the producers extension from reference set members created by other organisations (i.e. belonging to other modules).

    Even though the individual reference set members belong to the module of the extension producer, the actual components that are referenced by the reference set member, may belong to modules in

    • The International Edition

    • The extension in which the reference set and its members are produced

    • Other extensions (which the producers extension modules are dependent on)

    The table below provides a summary of the process to follow when adding members to a reference set.

    File Type
    Process

    Reference Set

    A new refset row is created with a unique id. The data type for this id is UUID and the id can be generated using a UUID generator. Note that a namespace identifier will not be part of this id.

    Versioning and module identification attributes are set accordingly:

    • effectiveTime is set to the date the extension will be published

    • active is set to reflect the status of the reference set member, i.e. 1 for active

    • moduleId is set to identify a module concept managed by the extension producer

    Attributes common for all reference set types are set accordingly:

    • refsetId is set to the identifier of the concept used to identify and name the reference set. Note, the value of refsetId will be the same for all members in the reference set

    • referencedComponentId is set to the identifier of the SNOMED CT component or reference set, which is referenced by this specific reference set member

    Principles for modifying reference sets include:

    • Reference sets can be modified by

      • Adding or inactivating reference set members. Please refer to the guidance on Add Members to a Reference Set or Remove Members from a Reference Set.

      • Modifying mutable attribute values of reference set members. To see what attributes are mutable for each reference set type, please refer to the specification of the specific reference set type in the reference set release files specification. If the reference set type is a locally defined reference set, please consider any mutability constraints on the individual attributes.

    • Don't modify immutable attributes of a reference set.

      • In the case where the modification of an immutable attribute is required, this should be done by inactivating the reference set member and creating a new reference set member with the required, updated values.

    • If circumstances require you to modify reference set members that belong to another module than the producers extension, following options exist:

      • Inactivating the specific reference set member in your own module and create a new reference set member with the updated value

        • The benefit of this approach is that you retain the definition and representation of the reference set member as it was intended by its original authors, and the new reference set member will be easily identified as a local reference set member, as the identifier of that reference set member is not available in the original reference set

    The table below provides a summary of the process to follow when modifying an existing member in a Reference Set.

    Table: Modify reference set member

    File Type
    Process

    Concept

    The metadata concept representing the reference set is retained

    Reference Set

    A new reference set row is created and the id is retained from the previous version of the refset member.

    Versioning and module identification attributes are set accordingly:

    • effectiveTime is set to the date the extension will be published

    • active is set to reflect the status of the reference set member, i.e. '1' for active and '0 'for inactive

    • moduleId is set to identify a module managed by the extension producer

    Any inactivation of reference set members should be done in the module of the reference set producer.

    The table below provides a summary of the process to follow when removing members from a reference set.

    File Type
    Process

    Reference Set

    The following steps should be taken to inactivate a reference set member

    Create a new version of the reference set member to be inactivated.

    Versioning and module identification attributes are set accordingly:

    • effectiveTime is set to the date the extension will be published

    • active is set to reflect the status of the reference set member, i.e. 0 for inactive

    Developing reference sets can be done in different ways, depending on requirements, resources and skills of the organization who wish to develop a reference set. In some situation it may be the best approach to build the reference set without making use of or relying on any previous work for assistance. In other situations, existing reference sets may meet the requirements for another organization that wants to develop a reference set, and in these cases there are different approaches to utilize the existing work. In this section we introduce different general approaches to the creation of SNOMED CT reference sets.

    One way to create a reference set is to specify the content from SNOMED CT to be included in the reference set without looking at any existing SNOMED CT reference sets. This approach may be chosen, if no reference set is available that meets the requirements of the developing organization. It may also be because the requirements for the new reference set is so clearly defined or limited in scope that it is easier to create the reference set from scratch.

    This could for example be, if a group of orthopedic surgeons are developing a subset of SNOMED CT procedure concepts to be included in a certain pick list of their local electronic health record. The group already know what options should be available in the pick list, so they choose to create their own reference set and add the required component references to this reference set, see figure below.

    Creating a new reference set without looking at any existing SNOMED CT reference sets

    Depending on the scope of content for the reference set there are different development methods that can be applied for selecting, or defining, reference set members.

    Developing a new reference set also requires the developing organization to make changes to the reference set as necessary to meet evolving requirements.

    As the experience of the SNOMED CT community grows, it becomes increasingly likely that there is some existing work that will provide a useful starting point, or that can be used to validate the work that you are doing. In this case, adopting an existing reference set may be a useful approach to take for acquiring a reference set.

    Adopting an existing reference set is when the adopting organization/project use the existing reference set and future updates of that reference set as provided. This means, that the adopting organization commits to adopting any changes that are made to the source subset over time.

    To be able to adopt and existing reference set it is a prerequisite that the existing reference set is part of a module that is included in the SNOMED CT Edition used by the adopting organization.

    It is also a prerequisite that those maintaining the source subset publish changes in a predictable fashion, and the adopting project has processes in place to manage this adoption.

    Adopt reference set

    Adopting an existing reference set is an attractive solution in situations where the source subset is already being used within the communicating community, and so avoids the need for mappings to be maintained, or other strategies developed to deal with differences.

    The drawback is that if the adopting project requires changes to the contents of the subset it does not have any mechanism for requesting such changes or making them happen.

    In the situation where an existing reference set meets the requirements of an organization who wish to use a SNOMED CT reference set, it may be a solution to copy this reference set instead of adopting the reference set. Copying a reference set is a useful approach in the situation where the existing reference set is part of a Module which is not included in the SNOMED CT Edition that the copying organization use.

    Copying an existing reference set means create a new reference set with members referencing the same components as the existing reference set.

    It is important to have a clear strategy for maintenance of a copied reference set. When an organization chooses to copy an existing reference set they need to make changes to the reference set as necessary to meet their evolving requirements. Whether it is the copying organization or the authoring organization who is responsible for adding or inactivating content to the existing reference set depends on the agreement between the involved parties. It also depends on whether the authors of the existing reference set have established a process, which deals with requests for changes. In either situation the copying organization will need to apply the changes made to any new version of the original reference set to the copied reference set.

    Copy reference set

    Another approach to develop a reference set, is to adapt an existing reference set. This is where an existing reference set is used as a source of inspiration for the developing organization. It may also be, that the existing reference set almost meet the requirements of the adapting organization, but some modifications are needed. The adapting organization may wish to add more content to the existing reference set, or there may be content in the existing reference set which should be excluded from the new reference set.

    Like copying reference sets, adapting a reference set will include the creation of a new reference set which is authored and maintained by the adapting organization. The members of the new reference set may then reference components that are also referenced in the existing reference set, they may exclude references that are in the existing reference set, or they may add other component references to meet the requirements of the adapting organization.

    Adapt reference set

    When developing simple reference sets, there are different methods which can be applied to determine what concepts to be included in the subset. The two overall approaches to defining the reference set members are manual enumeration and intensional definition.

    Identifying reference set members by manual enumeration is useful when the number of members required is limited or when migrating from a well-specified domain. The source information may come from a variety of sources, such as:

    • Subsets of concepts from other code systems

    • Legacy codes (when migrating from a system that do not use SNOMED CT)

    • Clinical guidelines and other knowledge resources

    Manual enumeration is also useful when the reference set should be stable over time, i.e when addition of concepts, in subsequent releases of SNOMED CT, is not required to be reflected in the reference set.

    Identifying reference set members intensionally is useful for creating subset of concepts who share a set of common characteristics, such as:

    • Being a descendant of the same focus concept

    • Sharing one or more attribute relationships

    Intensional definition of reference set members is also useful when changes to concepts, in subsequent releases of SNOMED CT, is required to be reflected in the reference set.

    Ensuring the quality of a reference set is important for the successful use of SNOMED CT. It is crucial that the content of the reference set references the concepts which represent the meaning of the data it is to be linked to. In addition, it is important that the human interpretation of the concepts referred to aligns with the logical definition provided by SNOMED CT. Even when using reference sets for less patient safety critical purposes, the quality of the reference set needs to be sufficient to be trusted to serve its purpose.

    Reviewing a reference set is important throughout the reference set development process, however at least three types of validation should be emphasized, see illustration below.

    • Design review: The overall objective with this review is to verify whether the reference set design meets the requirements.

    • Content review: The overall objective with this review is to verify whether the selected reference set members are sufficient for the context where the reference set is to be used.

    • Test: The overall objective with testing the reference set is to validate the reference set in the context where it is to be used. Testing is done to assure that the reference set meets the needs of the involved stakeholders.

    Quality assurance stages

    Reviewing a reference set before testing it in the context of its usage is important in order to correct the most distinctive errors, such as content gaps or disagreements about selection of concepts. Additionally, reviewing a reference set is important, because it is much easier to make major adjustments as early as possible. In addition, the adaptability of the reference set increases the higher the quality of the reference set, according to the perspective of the subset users. The level of quality assurance needed will of course be dependent on the practical use case of the reference set.

    The checks that should be done as part of the review process include:

    1. Check that all concept ids are current (that there is no references to inactive concepts)

    2. Check that all concepts included in the reference set are appropriate to the use case

    3. Check that the terms used to describe these concept ids are appropriate

    4. Check that there are no gaps in content. I.e. concepts that should be included in the reference set that aren't

    5. Check that there is clear context and meaning, which align with the surrounding models that the reference set is to be used with

    The people involved with reviewing the reference set should be by a combination of domain experts and SNOMED CT experts.

    • Domain experts: There may be different types of domain experts, but at least two types of domain experts can be specified :

      • Clinical domain experts: Persons who have knowledge about the use of the reference set and knowledge about the context where the subset is going to function. Often, clinical domain experts will be clinical users who have the sufficient level of clinical knowledge, to evaluate whether the scope and the content of the reference set is sufficient.

      • Technical domain experts: Persons who have knowledge about the technical environment where the reference set is going to be implemented. technical experts should have knowledge about the various models to which this reference set should be bound. Often, these experts will have a technical background, for example software architects, programmers, IT-managers. These experts are especially important at an early stage of the reference set development process, to review and validate the design of the reference set in relation to the requirements set out by the technical infrastructure.

    • SNOMED CT Experts: Persons who have the sufficient knowledge about SNOMED CT to review the concepts selected for a specific purpose. These persons should be able to assess whether the definition of the selected reference set members suite the domain of the reference set. For example, if the reference set represents a problem list, then the included members should reference clinical finding concepts. This group is also serve an additional, supportive role in terms of guiding the domain experts in reaching correct interpretation of the reference set structure and content.

    SNOMED International does not recommend ONE specific approach for review of reference sets, but blinded approaches are typically a feasible approach to achieve high quality reference set. Alternatively, or additionally, a combination of review methods can be recommendable to ensure a reliable and usable review process. Ideally, reference sets should be reviewed iteratively until the reviewers are satisfied. Examples of the approaches to take are illustrated in the following table.

    Reference set review approaches

    Approach
    Description

    Single author single reviewer

    In this approach one person author the reference set, i.e. determines the content to be included, while another person reviews the selected reference set members. The reviewer may also add comments against the proposal and suggest alternative content. In a really small team, the author and reviewer may be the same person. However this is not ideal, and it is highly recommended to include two or more people in the review process.

    Cross-review

    Using this approach the reference set development work is divided evenly between two or more authors of the reference set.

    1. The authors divide the material between, so they are each responsible for the initial development of a specific part of the reference set.

    2. The authors then swap their material and they each review each other's material.

    This approach can be very efficient if time is short, because you can spread both the development and the review load between more than one person – however, reviewing someone else’s material may not always as effective (in terms of quality) as the dual blinded approach.

    Dual blind review with an adjudicator

    This approach is useful in a slightly bigger team than required for the single mapper single reviewer approach.

    This approach includes following steps:

    1. Two authors develop a draft reference set based on exactly the same material

    2. Their reference sets are then compared, to identify any differences. If any differences are found, then

    In addition to the abstract assurance of the subset in isolation, there may be a requirement for a level of testing to be undertaken in healthcare systems, and tested under the exact circumstances of intended use. This may be undertaken by releasing a technology preview targeted at specific bodies for feedback. An impact assessment and, most importantly, safety testing will need to take place upon deployment of the subset into systems, particularly where significant changes have taken place.

    Provide Feedback

    Prerequisites for Creating a Reference Set

    Authoring Reference Sets

    Create a New Reference Set

    Principles

    Process

    If new attribute values need to be created these should also be added as SNOMED CT concepts and placed as subtypes of the concept , following the process described above.

    Modify a Reference Set

    Principles

    Process

    End Support of a Reference Set

    Principles

    Process

    Distribution of an Inactivated Reference Set and its Members

    It is essential that the inactive reference set concept, metadata and reference set members are included in the first release of the original release package after the changes are made. Otherwise users applying delta updates will not be aware that the change has been made.

    Authoring Reference Set Members

    Add Members to a Reference Set

    Principles

    Referenced Components

    Process

    Modify Members of a Reference Set

    Principles

    Process

    Remove Members from a Reference Set

    Principles

    Process

    Development Approaches

    Develop New Reference Set

    Hence, you may choose to develop a new reference set if:

    • No existing reference set meets you requirements

    • The scope of the reference set is limited and clearly specified

    Adopt an Existing Reference Set

    Hence, you may choose to adopt an existing reference set if:

    • The reference set meets the requirements of your organization

    • You are confident that the existing reference set will be well-maintained

    Copy an Existing Reference Set

    Hence, you may choose to copy an existing reference set if:

    • The reference set meets the requirements of your organization

    • You are NOT confident that the existing reference set will be well-maintained

    Adapt an Existing Reference Set

    Hence, you may choose to adapt an existing reference set if:

    • The reference set almost meets the requirements of your organization, but you wish to modify it to fully fulfill your requirements.

    Development Methods

    Requirements for Manual Enumeration

    Requirements for Intensional Definition

    Review and Quality Assurance

    Stages of Quality Assurance

    Review

    Skills and Roles

    Review approaches

    Test

    Versioning

    Create a new version of the specific reference set member in your own module, and make the necessary modifications

    Ensure that documentation explaining this change is prepared and distributed to all users of the extension.

    Add a row to the | Concept inactivation indicator reference set| indicating the reason for inactivation of the reference set.

  • Ensure that documentation explaining this change is prepared and distributed to all users of the extension.

  • moduleId is set to identify a module managed by the extension producer

    All other attribute values are retained.

    The adjudicator compares the reference set differences and decides which is appropriate. In some cases, the adjudicator may ask the authors to provide their reasoning for their choice of reference set members, and this may be used to help make the decision.

    This approach can produce higher quality reference sets, because each author is independently cross-checking each other's material without being biased by the decisions of the other author. While this approach takes longer during the development phase (because both authors need to develop a draft of the whole reference set ), the review phase can be a lot quicker (because the adjudicator only needs to check the parts that the authors disagreed on).

    The reference set is part of a module that is included in the SNOMED CT Edition that you use.

    The existing reference set is NOT part of a module that is included in the SNOMED CT Edition that you use.

    Relationship file

    1. Add an | is a | Relationship to link the reference set to the appropriate pattern

    Relationship

    1. Link the attribute with an | is a | Relationship into the 900000000000457003 | Reference set attribute (foundation metadata concept)| hierarchy

    1. Create a new reference set following the process described in Create a New Reference Set. The reference set must have a newly allocated id, the updated effectiveTime for the relevant release date and the moduleId of the module in which the reference set is being created. However, the name and all other fields should have the same values as in the original versions.

    2. Create new members of the newly created reference set following the process described in Add Members to a Reference Set. A member must created matching each of the active members of original reference set.

    3. Create a row in the | REPLACED BY association reference set| indicating that the original reference set has been replaced by this reference set.

    Ending maintenance of without formally deprecating continued use of a reference set

    1. Inactivate the reference set concept, following the process described in .

    2. Do not inactivate the members of the reference set.

    3. Add a row to the | Concept inactivation indicator reference set| indicating the reason for inactivation of the reference set.

    4. Ensure that documentation explaining this change is prepared and distributed to all users of the extension.

    -

    Deprecating continued use of a reference set

    1. Inactivate the reference set concept and metadata following the process described in.

    2. Inactivate all the members of the reference set following the process described in Remove Members from a Reference Set.

    3. Add a row to the | Concept inactivation indicator reference set| indicating the reason for inactivation of the reference set.

    4. Ensure that documentation explaining this change is prepared and distributed to all users of the extension.

    -

    Attributes specific to the reference set type are set. For more information, please refer to the release file specification.

    Attributes common for all reference set types are set accordingly:

    • refsetId is retained as the value from the previous version of this refset member. A member cannot move from one reference set to another

    • referencedComponentId id retained as the value from the previous version of this refset member. A member cannot change the component which it refers to.

      • In this case, the existing member record should be inactivated, and a new one created.

    Attributes specific to the reference set type are set accordingly:

    • additional attributes - may be updated with a value, of type (and possibly range) limited by the descriptor record for this Reference Set attribute

    Workshop

    Validation workshops is workshops dedicated to review and validate the design and/or content of a reference set. In these workshops the content or uncertainties are discussed in details, or test-persons are asked to prioritize and assess specific subset members etc. The participants may have had a chance to review the reference set individually prior to the workshop to prepare questions and comments for discussion. The number of people in the workshop and their roles should be considered and selected dependent of the format and the scope of a specific workshop.

    This approach is time consuming which should be acknowledged already in the planning stage. However, this approach may also be rewarding. Workshops often give rise to detailed discussions or unplanned discussions of relevant issues, but at the same time workshops provide an opportunity of increased ownership and participation among the participants, which may have a positive effect on the adoption of the reference set. It is recommended to plan these workshops in detail and to include a set of workshops. The number of workshops necessary depends on the size of the reference set, and how the feedback sharing is conducted.

    Add Members to a Reference Set
    Reference Set Descriptor
    Remove Members from a Reference Set
    900000000000457003 | Reference set attribute (foundation metadata concept)|
    Naming Conventions for Reference Sets

    Search and Data Entry

    Many clinical applications include data entry interfaces controlled or assisted by protocols, templates or structured data entry forms. Each field on a data entry form may allow only a limited set of terms or concepts to be entered . The set of candidate term or concept may range from very small (e.g. a set of priorities for a procedure) to very large (e.g. any general diagnosis). Reference sets can be used to restrict the possible values that meet the requirements of a particular data entry protocol.

    Examples of using reference sets to support search and data entry include:

    • Simple Reference Set can be used to constrain searches or provide values for selection lists.

    • can be used to prioritize search results or provide an alternative ordering of search results.

    • can be used to supplement search results or data entry options with additional textual or coded information, such as advice on intended usage.

    • can be used to ensure that the preferred descriptions, for a given dialect, care setting or clinical context, are displayed.

    A SNOMED CT enabled application can use an appropriate reference set to display the valid data entry options and constrain text searches. Below are more detailed use case examples.

    In many care settings, similar data sets are collected for each patient. Clinical consultations for many conditions involve repeatable sequences of data entry. These structured and predictable data entry requirements can be met using sets of customized data entry forms designed to collect appropriate data items.

    When using a structured data entry mechanism, SNOMED CT encoded data can be selected in a variety of ways. For example, the concepts or descriptions may be selected directly from a list, or the encoding may result from responses to simple choices or the entry of particular values. Simple reference sets can ensure that SNOMED CT codes are entered effectively and consistently.

    A simple reference set of concepts may be used to represent the options available in a small selection list. Similarly, a simple reference set of descriptions or a language reference set may specify the set of descriptions available for searching in a specific coded data element. The figure below illustrates how a simple reference set is is used as a value set in a data entry form.

    Simple reference sets enable text searches to be constrained to those components relevant to a particular field. The provides additional detail about how to make effective and efficient search capabilities using SNOMED CT. The figure below illustrates the use of a simple reference set to constrain the values returned by a text search in a data entry form. Additionally, dedicated search features support searching the content of the reference set.

    Even though subsets are typically used to specify content for inclusion, some situations may require particular components to be excluded from another set. Excluding sets of SNOMED CT components can be used to prevent certain concepts appearing in particular search and data entry items.

    Like every subset of SNOMED CT components, it is possible to define the subset for exclusion either intensionally or extensionally . This is illustrated in the figure below. When intensionally defined, a query specification reference set can be used for the intensional definition, and a simple reference set can be used for the expansion of the set.

    The criteria for a successful implementation of SNOMED CT includes the customization of SNOMED CT to meet user needs. The order in which SNOMED CT components are displayed is often important for data entry and searching. This topic is further explored in the . In general, rational ordering of selectable items depends on the nature of the application and its operating environment. The table below shows examples of ordering data entry items and search results rationally.

    Table: Examples of rational ordering

    Approach
    Description
    Example Uses
    Reference Set

    Displaying items for data entry in a rational way typically involves organizing the values in a selection list in an order that is logical for the end users. As illustrated in the figure below, an ordered reference set can be used to specify the order in which SNOMED CT components should be displayed.

    Examples of presenting concepts (or descriptions) in an order that is rational or helpful for a particular purpose include:

      • Displaying numbered body parts, such as fingers, cranial nerves or vertebrae, in numeric order

      • Displaying ordinal values, such as frequencies, severities or stages, from lowest to highest

    The table below shows how the order of cranial nerves can be specified in an . The order attribute is used to indicate the sequential order of each subset member.

    refsetId
    referencedComponentId
    order

    Some situations may require a set of subset members to be grouped. For example, a set of concepts may need to be grouped based on how frequently they are used within a particular specialty, department or data entry scenario. In this case, an may be used for prioritization, instead of a purely sequential ordering of each member. Prioritization is similar to sequential ordering, but also supports assigning the same rank to multiple components. A common use of prioritization is to support rational ordering of concepts or descriptions for display of data entry items and search results. More advanced uses may also be required, for example where the priority order is used to trigger certain decision support features or data entry options.

    can be used to specify and display a customized navigation hierarchy. Alternative hierarchical representations of SNOMED CT can support data entry by satisfying the requirements of a specific use case, and addressing some of the challenges of displaying an unordered polyhierarchy (as defined by SNOMED CT's subtype structure).

    The figure below shows the way a navigation hierarchy is represented. The example reference set contains a set of description components used to describe finger structures.

    The | All fingers | components is linked to the | Hand |, and the | Thumb | is linked to the | All fingers component | The | Thumb | is placed first because it has the order value 1. Similarly, the components for | Second finger |, | Third finger |, | Fourth finger | and | Fifth finger | are also linked to the | All finger | component in the order specified by the order value. As shown in the figure the direction of the associations goes from the referenceComponentId to the linkedToId, so the components referenced by the linkedToId are used to form the groups specified in the hierarchy

    id
    effective Time
    active
    moduleId
    refsetId
    refsetId_term
    referencedComponentId
    referencedComponentId_term
    targetComponentId
    targetComponentId_term
    order

    The usability of the for representing alternative hierarchy can be maximized by:

    • Constraining the number of levels in the hierarchy and/or the number of concepts at each level.

      • Using many levels, each with a relatively small number of concepts, allows the most common options to be displayed with a higher priority.

      • Using fewer levels, each with a relatively large number of concepts can reduce the number of levels that needs to be navigated to find an appropriate concept.

    SNOMED CT represents relationships between concepts that are necessarily (i.e. always) true. However, other relationships between concepts may exist in specific situations or use cases. An can be used to represent these additional relationships, which are not necessarily true, but which are needed for a specific purpose. Examples include:

    • Associations between procedures and the clinical findings that serve as an indication for that procedure. These associations enable relevant procedures to be displayed when specific clinical findings are selected.

    • Associations between a medication and its known side effects. These associations enable relevant side effects to be displayed when specific medications are selected

    • Associations between a disease and the set of possible symptoms that may be experienced. These associations enable relevant diseases to be displayed when a set of symptoms are selected.

    Association Reference Set can be used to constrain (or guide) data entry into fields, where the value is dependent on (or has some type of association with) the value of another field. While other technical solutions are possible, the Association Reference Set provides a standardized way of representing and distributing the associations required to support this functionality. The figure below illustrates how an Association Reference Set could be used for this purpose.

    Showing concepts with a high priority before their siblings using hierarchical display results.

    • Display search results in priority order

      • Results with same rank ordered by shortest or closest match

    • Displaying a rank indicator in search result list

    609999999102 | Cranial nerve simple reference set|

    56193007 | Oculomotor nerve structure (body structure)|

    3

    609999999102 | Cranial nerve simple reference set|

    39322007 | Trochlear nerve structure (body structure)|

    4

    609999999102 | Cranial nerve simple reference set|

    80622005 | Abducens nerve structure (body structure)|

    5

    609999999102 | Cranial nerve simple reference set|

    27612005 | Trigeminal nerve structure (body structure)|

    6

    609999999102 | Cranial nerve simple reference set|

    56052001 | Facial nerve structure (body structure)|

    7

    609999999102 | Cranial nerve simple reference set|

    8598002 | Vestibulocochlear nerve structure (body structure)|

    8

    609999999102 | Cranial nerve simple reference set|

    21161002 | Glossopharyngeal nerve structure (body structure)|

    9

    609999999102 | Cranial nerve simple reference set|

    88882009 | Vagus nerve structure (body structure)|

    10

    609999999102 | Cranial nerve simple reference set|

    15119000 | Accessory nerve structure (body structure)|

    11

    609999999102 | Cranial nerve simple reference set|

    37899009 | Hypoglossal nerve structure (body structure)|

    If there is a need to specify a customized hierarchical structure to support navigation, this can be achieved by specifying an using an .

    …

    20160731

    1

    19999999103

    159999999105

    Associations as ordered reference set

    70327001

    All fingers

    141819019

    Hand

    1

    …

    20160731

    1

    19999999103

    159999999105

    Associations as ordered reference set

    127053016

    Thumb

    70327001

    All fingers

    1

    …

    20160731

    1

    19999999103

    159999999105

    Associations as ordered reference set

    138873019

    Second finger

    70327001

    All fingers

    2

    …

    20160731

    1

    19999999103

    159999999105

    Associations as ordered reference set

    108884010

    Third finger

    70327001

    All fingers

    3

    …

    20160731

    1

    19999999103

    159999999105

    Associations as ordered reference set

    136021011

    Fourth finger

    70327001

    All fingers

    4

    …

    20160731

    1

    19999999103

    159999999105

    Associations as ordered reference set

    21356012

    Fifth finger

    70327001

    All fingers

    5

    Options that are never (or rarely) used can be excluded from a customized navigation hierarchy to limit the range of choices available.

  • Ordering each concept at the same hierarchical level, to match user preferences or to facilitate faster access to more frequently used options.

  • Ensuring that the navigation hierarchy is adapted to meet the requirements of a specific use case, without affecting the correctness of the subtype hierarchy (and associated logical inferences).

  • Sequential ordering

    Annotating each subset member with an integer, which specify the consecutive order of the members. Two subset members do not have the same number assigned to them.

    Displaying descriptions sequentially according to their specified order.

    Ordered component reference set

    Prioritization

    609999999102 | Cranial nerve simple reference set|

    11522000 | Olfactory nerve structure (body structure)|

    1

    609999999102 | Cranial nerve simple reference set|

    18234004 | Optic nerve structure (body structure)|

    2

    Constrain Data Entry

    Constrain Searches

    Exclude Content

    Order Items for Search and Data Entry

    Sequential Ordering

    Prioritization

    Alternative Hierarchical View

    Use Case Specific Associations

    Language Reference Set
    SNOMED CT Search and Data Entry Guide
    SNOMED CT Search and Data Entry Guide
    ordered component reference set
    ordered association reference set
    Ordered association reference sets
    ordered association reference set
    Association Reference Set
    Provide Feedback
    Using simple reference sets to constrain data entry
    Using simple reference sets to constrain searches
    Subsets for excluding content can be either intensionally or extensionally defined
    Example of how an ordered reference set can be used to order items in a drop down list
    Using a priority order to display data entry options
    Navigation hierarchy example.
    Using associations to define dependencies between fields
    Ordered Reference Set
    DEPRECATED: Annotation Reference Set

    Annotating each subset member with a an integer, which specify a priority order. Two or more subset members may have the same number assigned to them.

    Initially listing concepts and associated descriptions with a priority above a specified threshold and requiring additional steps to access those assigned a lower priority.
    • Initial search is conducted on components with highest priority

    • Allow search to be extended to lower priorities

      • If no high priority matches

      • If user requests more matches

    Ordered component reference set
    alternative hierarchical view
    ordered association reference set
    Modify Concept in an Extension
    Inactivate Concept in an Extension
    Inactivate Concept in an Extension
    Inactivate Concept in an Extension
    Starter Guide - Using SNOMED CT in Clinical Information