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Advanced FHIR Terminology Services,
incl. SNOMED CT
AUSTRALIAN E-HEALTH RESEARCH CENTRE, HEALTH & BIOSECURITY
Michael Lawley, PhD | Research Group Leader
16 November 2017
FHIR® is the registered trademark of HL7 and is used with the permission of HL7. The Flame Design mark is the registered trademark of HL7 and is used with the permission of HL7.
Who am I?
• Australian eHealth Research Centre, CSIRO
• SNOMED involvement since late 2000s
• Technical Committee 2010-2015
• Modelling Advisory Group 2015-present
• SNOMED Languages Project Group
• SNOMED Logic Profile Working Group
• SNOMED CT URI specification
• Expression Constraint Language
• Ontoserver, Shrimp, Snapper, Snorocket
• Australia’s National Clinical Terminology Service
Shrimp
- for browsing
http://ontoserver.csiro.au/shrimp
Snapper
:Author
(also :Map)
work-in-
progress
ValueSet
Explorer
- compare
performance
and behaviour
http://ontoserver.csiro.au/vstool/
Getting to know each other
• Jim’s Practical Terminology Services this morning?
• Used Terminology services?
• Implemented any part of the Terminology subsystem?
• SNOMED CT knowledge?
• Other code system knowledge?
FHIR Terminology - big picture
Concept Map
Defines a set of
concepts with a
coherent meaning
src rel tgt
Code System
Defines a set of
concepts with a
coherent meaning
url, version, name, …
Filters, Properties
Concepts
• Code
• Display
• Definition
Code System
Defines a set of
concepts with a
coherent meaning
url, version, name, …
Filters, Properties
Concepts
• Code
• Display
• Definition
Value Set
A selection of a
set of codes for
use in a
particular
context
Value Set
A selection of a
set of codes for
use in a
particular
context
Terminology in FHIR Search
• A lot of search parameters in FHIR are of type ‘token’
• These can leverage terminology services
• :above/:below
• E.g.: /Condition?body-site:below=http://snomed.info/sct|272673000 (all
Conditions where the finding site is a descendent of Bone Structure
• :in/:not-in
• E.g.:
/ProcedureRequest?code:in=http://snomed.info/sct?fhir_vs=refset/3257036
1000036108 (all ProcedureRequests in the Imagine Procedure refset
Basic Terminology Services | Jim Steel8 |
Externally defined code systems
SNOMED CT
• 19 hierarchies
• ~ 400K Concepts
• ~ 1M Descriptions
• 3 types
• Fully Specified Name
• Preferred term
• Synonyms
• ~ 65 Attributes
• Combined in triplets forming ~ 1.5M relationships
• ~ 125 relationship patterns
Demo - Shrimp
Practical tips
1. Beware out-of-order responses
2. Minimise latency
– Batch multiple operations for single round-trip
– Also avoids need for client-side synchronisation
3. Minimise bandwidth
– count for $expand
– includeDefinition, includeDesignations on $expand
– property for $lookup
– _count, _elements for search / read operations
– Accept-Encoding: gzip
4. GET can be cached (HTTP level), POST cannot
Warning: A lot of these can be server-dependent. They’re not proprietary, but you should
check support for them by your terminology server.
Implicit ValueSets
Defined for specific code systems
SNOMED CT, LOINC, …
http://snomed.info/sct?fhir_vs
http://snomed.info/sct?fhir_vs=isa/{sctid}
http://snomed.info/sct?fhir_vs=refset
http://snomed.info/sct?fhir_vs=refset/{sctid}
Typeahead controls
https://plnkr.co/edit/wOjWbt
<input
uib-typeahead="suggestion for suggestion in concepts($viewValue,
'http://snomed.info/sct?fhir_vs=isa/138875005')” />
$scope.concepts = function(term, valueSet) {
return $http.get(
‘https://ontoserver.csiro.au/stu3-latest/ValueSet/$expand', {
params: {
identifier: valueSet,
filter: term,
count: 15,
'_format': 'json’
},
responseType: 'json’
}).then(function(response) {
return response.data.expansion.contains || [{ display: term }];
});
Typeahead controls
https://plnkr.co/edit/wOjWbt
<input
uib-typeahead="suggestion for suggestion in concepts($viewValue,
'http://snomed.info/sct?fhir_vs=isa/73211009')” />
$scope.concepts = function(term, valueSet) {
return $http.get(
‘https://ontoserver.csiro.au/stu3-latest/ValueSet/$expand', {
params: {
identifier: valueSet,
filter: term,
count: 5,
'_format': 'json’
},
responseType: 'json’
}).then(function(response) {
return response.data.expansion.contains || [{ display: term }];
});
SNOMED CT Versioning
• International release (6 monthly)
• National releases (1-6 monthly)
• Other releases
Version is an Edition + Effective Time
http://snomed.info/sct/{module}/version/{date}
Branching version structure
No single “latest” version
INT
US
AU
X
Y
Z
time
dependency
Implicit ValueSets
Defined for specific code systems
SNOMED CT, LOINC, …
http://snomed.info/sct?fhir_vs
http://snomed.info/sct?fhir_vs=isa/{sctid}
http://snomed.info/sct?fhir_vs=refset
http://snomed.info/sct?fhir_vs=refset/{sctid}
Implicit ValueSets
Defined for specific code systems
SNOMED CT, LOINC, …
http://snomed.info/sct?fhir_vs
http://snomed.info/sct?fhir_vs=isa/{sctid}
http://snomed.info/sct?fhir_vs=refset
http://snomed.info/sct?fhir_vs=refset/{sctid}
http://snomed.info/sct/{module}
Implicit ValueSets
Defined for specific code systems
SNOMED CT, LOINC, …
http://snomed.info/sct?fhir_vs
http://snomed.info/sct?fhir_vs=isa/{sctid}
http://snomed.info/sct?fhir_vs=refset
http://snomed.info/sct?fhir_vs=refset/{sctid}
http://snomed.info/sct/{module}/version/{date}
ValueSets and CodeSystem versions
{
ValueSet cmpose details
{
{ }
ValueSet compose details
{
{
ValueSet compose details
{
“Complex” ValueSets
Cycles with ValueSet inclusion / exclusion
Mixing codes from multiple code systems (don’t)
Multiple versions of the same code system
“Complex” ValueSets
“compose”: {
“include”: [{
“valueSet”:
“http://snomed.info/sct/32506021000036107/version/
20171031?fhir_vs=isa/138875005”
}],
“exclude”: [{
“valueSet”:
“http://snomed.info/sct/32506021000036107/version/
20170930?fhir_vs=isa/138875005”
}],
Expression Constraint Language (ECL)
http://snomed.org/ecl
Based on post coordination syntax
Wildcard, descendants, ancestors, reference set members, cardinality
constraints
http://ontoserver.csiro.au/shrimp/ecl_help.html
filter:[{property:’constraint’, op:’=‘, value: ‘…’ }]
ECL brief summary
Category Syntax Example
Basic sctId, *, ^ sctId ^ 723264001 |lateralizable
body structure|
Hierarchy << sctId, < sctId, <! sctId,
>> sctId, > sctId, >! sctId
<< 404684003 |clinical finding|
Composition x AND y, x OR y, x MINUS y
Relationships a : b = c, a : { b = c, d = e},
a.b
<< 404684003 :
363698007 |finding site| =
^ 723264001
Cardinality a : [low..high] b = c << 404684003 :
[1..1] 363698007 = *
SNOMED CT Post coordination
http://snomed.org/scg
71620000|Fracture of femur|:
272741003|Laterality| = 7771000|Left|
74400008|Appendicitis|:
116676008|Associated morphology|= 4532008|Acute inflammation|
64572001|Disease|:
{
116676008|Associated morphology|= 4532008|Acute inflammation|,
363698007|Finding site| = 66754008|Appendix structure|
}
CodeSystem operations
$subsumes?codeA= &codeB=
• equivalent, subsumes, subsumed-by, and not-subsumed
• terminology server handles post coordination semantics
$compose
• “Given a set of properties, return one or more possible matching
codes”
Presentation title | Presenter name31 |
http://hl7.org/fhir/terminology-service.html#closure
Why? stateful??
Consider implementing search:
[base]/Condition?code:below=126851005
[base]/Condition?code:in=http://snomed.info/sct%3Ffhir_vs
%3Disa/126851005
join
ConceptMap$closure
TerminologyClinical Data
$closure – usage flow
• init
• add set of codes
• ConceptMap of hierarchy &
equivalence [transitively closed]
• add more codes
• ConceptMap of additional
hierarchy & equivalence
• …
• resynchronisation
• {}
• 0: {}
• {a, c}
• 1: {a subsumes c}
• {b, d}
• 2: {a subsumes b, b subsumes c,
a subsumes d}
code:below
• Use $closure to maintain local edge-table of parent-child
relationships
• code:below=123
SELECT C.*
FROM Condition C, Edges E
WHERE C.code = 123
OR (E.parent = 123 AND C.code = E.child);
Code Mnemonic Code Mnemonic
equivalent wider
equal subsumes
inexact narrower
unmatched specializes
disjoint relatedto
ConceptMap - equivalence relationships
TS
TS
S T
S T
TS
S
TS
TS
S=T
TS
• Shrimp
– search & browse SNOMED CT, LOINC, ...
– http://ontoserver.csiro.au/shrimp
• Ontoserver
– powerful features, simple to deploy & use
– ECL queries
– http://ontoserver.csiro.au/shrimp/ecl.html
e.g., concepts with finding site of appendix structure
• Snapper:Author
– Author (simple) FHIR Terminology Resources
• Snorocket
– Description Logic reasoning engine
Tooling summary

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Fhir dev days_advanced_fhir_terminology_services

  • 1. Advanced FHIR Terminology Services, incl. SNOMED CT AUSTRALIAN E-HEALTH RESEARCH CENTRE, HEALTH & BIOSECURITY Michael Lawley, PhD | Research Group Leader 16 November 2017 FHIR® is the registered trademark of HL7 and is used with the permission of HL7. The Flame Design mark is the registered trademark of HL7 and is used with the permission of HL7.
  • 2. Who am I? • Australian eHealth Research Centre, CSIRO • SNOMED involvement since late 2000s • Technical Committee 2010-2015 • Modelling Advisory Group 2015-present • SNOMED Languages Project Group • SNOMED Logic Profile Working Group • SNOMED CT URI specification • Expression Constraint Language • Ontoserver, Shrimp, Snapper, Snorocket • Australia’s National Clinical Terminology Service
  • 6. Getting to know each other • Jim’s Practical Terminology Services this morning? • Used Terminology services? • Implemented any part of the Terminology subsystem? • SNOMED CT knowledge? • Other code system knowledge?
  • 7. FHIR Terminology - big picture Concept Map Defines a set of concepts with a coherent meaning src rel tgt Code System Defines a set of concepts with a coherent meaning url, version, name, … Filters, Properties Concepts • Code • Display • Definition Code System Defines a set of concepts with a coherent meaning url, version, name, … Filters, Properties Concepts • Code • Display • Definition Value Set A selection of a set of codes for use in a particular context Value Set A selection of a set of codes for use in a particular context
  • 8. Terminology in FHIR Search • A lot of search parameters in FHIR are of type ‘token’ • These can leverage terminology services • :above/:below • E.g.: /Condition?body-site:below=http://snomed.info/sct|272673000 (all Conditions where the finding site is a descendent of Bone Structure • :in/:not-in • E.g.: /ProcedureRequest?code:in=http://snomed.info/sct?fhir_vs=refset/3257036 1000036108 (all ProcedureRequests in the Imagine Procedure refset Basic Terminology Services | Jim Steel8 |
  • 10. SNOMED CT • 19 hierarchies • ~ 400K Concepts • ~ 1M Descriptions • 3 types • Fully Specified Name • Preferred term • Synonyms • ~ 65 Attributes • Combined in triplets forming ~ 1.5M relationships • ~ 125 relationship patterns
  • 12. Practical tips 1. Beware out-of-order responses 2. Minimise latency – Batch multiple operations for single round-trip – Also avoids need for client-side synchronisation 3. Minimise bandwidth – count for $expand – includeDefinition, includeDesignations on $expand – property for $lookup – _count, _elements for search / read operations – Accept-Encoding: gzip 4. GET can be cached (HTTP level), POST cannot Warning: A lot of these can be server-dependent. They’re not proprietary, but you should check support for them by your terminology server.
  • 13. Implicit ValueSets Defined for specific code systems SNOMED CT, LOINC, … http://snomed.info/sct?fhir_vs http://snomed.info/sct?fhir_vs=isa/{sctid} http://snomed.info/sct?fhir_vs=refset http://snomed.info/sct?fhir_vs=refset/{sctid}
  • 14. Typeahead controls https://plnkr.co/edit/wOjWbt <input uib-typeahead="suggestion for suggestion in concepts($viewValue, 'http://snomed.info/sct?fhir_vs=isa/138875005')” /> $scope.concepts = function(term, valueSet) { return $http.get( ‘https://ontoserver.csiro.au/stu3-latest/ValueSet/$expand', { params: { identifier: valueSet, filter: term, count: 15, '_format': 'json’ }, responseType: 'json’ }).then(function(response) { return response.data.expansion.contains || [{ display: term }]; });
  • 15. Typeahead controls https://plnkr.co/edit/wOjWbt <input uib-typeahead="suggestion for suggestion in concepts($viewValue, 'http://snomed.info/sct?fhir_vs=isa/73211009')” /> $scope.concepts = function(term, valueSet) { return $http.get( ‘https://ontoserver.csiro.au/stu3-latest/ValueSet/$expand', { params: { identifier: valueSet, filter: term, count: 5, '_format': 'json’ }, responseType: 'json’ }).then(function(response) { return response.data.expansion.contains || [{ display: term }]; });
  • 16. SNOMED CT Versioning • International release (6 monthly) • National releases (1-6 monthly) • Other releases Version is an Edition + Effective Time http://snomed.info/sct/{module}/version/{date}
  • 17. Branching version structure No single “latest” version INT US AU X Y Z time dependency
  • 18. Implicit ValueSets Defined for specific code systems SNOMED CT, LOINC, … http://snomed.info/sct?fhir_vs http://snomed.info/sct?fhir_vs=isa/{sctid} http://snomed.info/sct?fhir_vs=refset http://snomed.info/sct?fhir_vs=refset/{sctid}
  • 19. Implicit ValueSets Defined for specific code systems SNOMED CT, LOINC, … http://snomed.info/sct?fhir_vs http://snomed.info/sct?fhir_vs=isa/{sctid} http://snomed.info/sct?fhir_vs=refset http://snomed.info/sct?fhir_vs=refset/{sctid} http://snomed.info/sct/{module}
  • 20. Implicit ValueSets Defined for specific code systems SNOMED CT, LOINC, … http://snomed.info/sct?fhir_vs http://snomed.info/sct?fhir_vs=isa/{sctid} http://snomed.info/sct?fhir_vs=refset http://snomed.info/sct?fhir_vs=refset/{sctid} http://snomed.info/sct/{module}/version/{date}
  • 25. “Complex” ValueSets Cycles with ValueSet inclusion / exclusion Mixing codes from multiple code systems (don’t) Multiple versions of the same code system
  • 26. “Complex” ValueSets “compose”: { “include”: [{ “valueSet”: “http://snomed.info/sct/32506021000036107/version/ 20171031?fhir_vs=isa/138875005” }], “exclude”: [{ “valueSet”: “http://snomed.info/sct/32506021000036107/version/ 20170930?fhir_vs=isa/138875005” }],
  • 27. Expression Constraint Language (ECL) http://snomed.org/ecl Based on post coordination syntax Wildcard, descendants, ancestors, reference set members, cardinality constraints http://ontoserver.csiro.au/shrimp/ecl_help.html filter:[{property:’constraint’, op:’=‘, value: ‘…’ }]
  • 28. ECL brief summary Category Syntax Example Basic sctId, *, ^ sctId ^ 723264001 |lateralizable body structure| Hierarchy << sctId, < sctId, <! sctId, >> sctId, > sctId, >! sctId << 404684003 |clinical finding| Composition x AND y, x OR y, x MINUS y Relationships a : b = c, a : { b = c, d = e}, a.b << 404684003 : 363698007 |finding site| = ^ 723264001 Cardinality a : [low..high] b = c << 404684003 : [1..1] 363698007 = *
  • 29. SNOMED CT Post coordination http://snomed.org/scg 71620000|Fracture of femur|: 272741003|Laterality| = 7771000|Left| 74400008|Appendicitis|: 116676008|Associated morphology|= 4532008|Acute inflammation| 64572001|Disease|: { 116676008|Associated morphology|= 4532008|Acute inflammation|, 363698007|Finding site| = 66754008|Appendix structure| }
  • 30. CodeSystem operations $subsumes?codeA= &codeB= • equivalent, subsumes, subsumed-by, and not-subsumed • terminology server handles post coordination semantics $compose • “Given a set of properties, return one or more possible matching codes” Presentation title | Presenter name31 |
  • 31. http://hl7.org/fhir/terminology-service.html#closure Why? stateful?? Consider implementing search: [base]/Condition?code:below=126851005 [base]/Condition?code:in=http://snomed.info/sct%3Ffhir_vs %3Disa/126851005 join ConceptMap$closure TerminologyClinical Data
  • 32. $closure – usage flow • init • add set of codes • ConceptMap of hierarchy & equivalence [transitively closed] • add more codes • ConceptMap of additional hierarchy & equivalence • … • resynchronisation • {} • 0: {} • {a, c} • 1: {a subsumes c} • {b, d} • 2: {a subsumes b, b subsumes c, a subsumes d}
  • 33. code:below • Use $closure to maintain local edge-table of parent-child relationships • code:below=123 SELECT C.* FROM Condition C, Edges E WHERE C.code = 123 OR (E.parent = 123 AND C.code = E.child);
  • 34. Code Mnemonic Code Mnemonic equivalent wider equal subsumes inexact narrower unmatched specializes disjoint relatedto ConceptMap - equivalence relationships TS TS S T S T TS S TS TS S=T TS
  • 35. • Shrimp – search & browse SNOMED CT, LOINC, ... – http://ontoserver.csiro.au/shrimp • Ontoserver – powerful features, simple to deploy & use – ECL queries – http://ontoserver.csiro.au/shrimp/ecl.html e.g., concepts with finding site of appendix structure • Snapper:Author – Author (simple) FHIR Terminology Resources • Snorocket – Description Logic reasoning engine Tooling summary

Editor's Notes

  1. This tutorial presents advanced use of clinical terminology services in FHIR including SNOMED CT-specific features. It covers implicit and explicit ValueSets and ConceptMaps, complex ValueSet definitions, and the use of SNOMED CT's Expression Constraint Language (ECL) in ValueSet definitions. We will also cover the use of $closure to support subsumption-based querying of patient data. 
  2. Free service, hosted by CSIRO
  3. Separately licensable
  4. Free service, hosted by CSIRO Issues with CORS
  5. All using FHIR APIs $expand + filter $expand $lookup $translate
  6. All codes (including inactives) Codes by subsumption (so no inactives) All reference sets Members of a reference set
  7. Descendants of diabetes
  8. Not problems with SCT in FHIR, but problems with SCT that are highlighted and brought to the fore by the success of FHIR
  9. All codes (including inactives) Codes by subsumption (so no inactives) All reference sets Members of a reference set
  10. Can specify CodeSystem version in ValueSet definition (normally don’t want to do this) lockedDate doesn’t work for code systems like SNOMED CT Also not easy for code systems with version formats that are not date-based
  11. Can specify alternate display text Observed support is patchy
  12. Multiple filters in an include – ALL must be true
  13. Multiple ValueSets – must be in all of them
  14. Excludes -
  15. Excludes -
  16. primitive & fully defined sufficient conditions
  17. SCG – SNOMED CT Compositional Grammar Focus concept Attribute name Attribute value “grouping” / “role grouping” subsumption
  18. Tumor of liver
  19. Snorocket, used by IHTSDO & NEHTA