Terminologies for Rare Disease data - ISCIII · NANDA‐NOC‐NIC +V SERAM SEMNim CMDIC CIE‐11 st...

12/12/2014

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Terminologies for RD data

Diseases classifications, domain nomenclatures, or clinical terminologies:

¿which is best [for what]?

Arturo RomeroEquipo HCDSNS

11/12/2014

Secretaría General de Sanidad

Complete semantic units

EHR Component

TerminologyBinding

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Objects of terminologies

Values:SNOMED CT

Values:SNOMED CT

Values :ICD‐9‐CM

…ICD‐10‐CM

Values :ICD‐9‐CM

…ICD‐10‐CM

Values:ORPHA Codes

Values:ORPHA Codes

Variables:SNOMED CTVariables:

SNOMED CT

DescripcionesN = 900.000

ConceptsN = 400.000

RD Sem

anticResources

Descriptionsn = 900.000

RD

Disease – non‐rare

Non‐disease

RD Extension (.ES)Descriptions

RD ExtensionEERR Concepts

RD ExtensionRelations

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Nationalstandards

Endproducts

Local systems

Healthcare information as source for registriesWorkflow, standards & shared resources

© MSSSI, 2014

Clinical coding

Coding extracts

Coding extract(encoded)

Archetype: mbds_extract.adl

mbds_extract_encoded.adl

Registries

CIE‐10‐ES!

MBDS‐Regional/Organisational

HCDSNS?

Basic version

CIE‐O‐3

Clinical terminologies (full scope)

Disease classifications (partial scope)

Domain nomenclatures (narrow focus)

Resources, registries & timetable (draft)

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CIE‐9‐MC

2009 2010 2011 2012 2013 2014 2015 2016 2017

CIE‐10‐ES

CIE‐O/3

CIAP‐1

CIAP‐2

SNOMED CT

Ahora

CIE‐10 (2008)

ORPHA

OMIM

RAEFAR CN Medicamentos

Nomenclátor de prescripción

LOINC

NANDA‐NOC‐NIC +V

SERAM

SEMNim

CMDIC

CIE‐11

st

st

stSNS

www

www

www

www

www

www

www

www

www

Case # 1Diagnosis: Fanconi anemia

Set your practical cases

www

www

www

www

www

C

C

C

C

C

C

C

C

C

Resource

eR SNSHCDSNS

CMBD

CMBD‐RAE

CMBD‐RAE

BDCAP

BDCAP

eR SNSHCDSNS

HCDSNS

eR SNS

HCDSNS

HCDSNS

HCDSNS

HCDSNS

REERREER

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CEF drives efficient deployment

eHGI – eHealth Governance Initiative

Cross‐borderhealthcare ringCross‐borderhealthcare ring

Cross‐bordereHealth connections ringCross‐bordereHealth connections ring

A new connection …A new connection …

InformationModels

Content ModelsClassificationsTerminologies(pre‐coordinated) or (post‐coordinated)Thesauri… Ontologies

Bindingprofiles

Modeling Object Servers

Terminology Servers

Cross‐border eHealth digital services deployment assets

Structure

ValuesCode lists

ContextUse cases

KnowledgeTriplesN-grams

Outer circles: members of IHTSDO


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Conclusions

• Text processing (narrative): thesauri families

• Clinical input capture (precise): terminologies

• Analysis within domain (narrow): nomenclatures

• Analysis on populations (broad): classifications

• Knowledge, decision and discovery: ontologies

Muchas [email protected]

Secretaría General de Sanidad

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Productos primarios y derivados

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Diagnósticos:Procedimientos:Medicamentos:


BDCAPBDCAP


BDCAP

CMBD‐RAECMBD‐RAE

Diagnósticos:Procedimientos:Morfología:


CMBD‐RAE


HCDSNSHCDSNS

Diagnósticos:Procedimientos:Medicamentos:Resultados:Intervenciones:


HCDSNS


REER (ISCiii)

Diagnósticos:Medicamentos:Genoma:Fenotipo:

eR SNSeR SNS

Medicamentos:Formas farmacéuticas:Vías de administración:Unidades:Indicaciones:


eR SNS


SIAP


HIS (SIGP+SIPR)

Diagnósticos:Procedimientos:Medicamentos:Prestaciones:Hallazgos:Pruebas

HCE


SIPF

Medicamentos:

epSOS y EUPS (EU MDE)epSOS y EUPS (EU MDE)

Problemas:Vacunaciones:Procedimientos:Medicamentos:Prescripciones:Alertas y alergias:


epSOS y EUPS (EU MDE)


SSII Departamentales

Medicamentos:

SGISI

Description_dk

Description_en

RelationDescription_es

Concepto ABacterial pneumonia (disorder)

Descripción 1neumonía bacteriana (trastorno)

Concepto CIS_A

Descripción 2neumonía bacteriana

Descripción 3neumonía bactérica

Concepto BInfective pneumonia (disorder)

Concepto BInfective pneumonia (disorder)

Concepto CIS_A

Concepto ABacterial pneumonia (disorder)

Concept

¿Cómo se organiza SNOMED CT?

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Resources for Cross‐Border eHealth Digital Services

Opportunities within the Connecting Europe Facility (CEF)


EU Foundations

EU Mandates

Directive2011/24/EU

Cross Border HealthcareArt 14

Clinical Information Deployment Use Cases

eID

Legal IOp

Other sources

Other sourcesReferenceModels

ISO 13606EN 13606:1‐5

HL7 RMIM

Regulations and Policies

InformationModels

Content ModelsClassificationsTerminologies(pre‐coordinated) or (post‐coordinated)

Thesauri… Ontologies

Bindingprofiles

Modelers


Terminology Servers

Others

Terminologists

Standards

Deployment

Basic pieces

Structure

ValuesCode lists

Use casesContext

Use cases

KnowledgeTriples

N-grams

CEF drives efficient deployment


InformationModels

Content ModelsClassificationsTerminologies(pre‐coordinated) or (post‐coordinated)Thesauri… Ontologies

Bindingprofiles


Terminology Servers

Cross‐border eHealth digital servicesDeployment assets

Structure

ValuesCode lists

ContextUse cases

KnowledgeTriplesN-grams

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Cross‐border traffic drives deployment


Outer circles: members of IHTSDO countries & population


IHTSDO Non‐IHTSDO Total

Member states: 14 (50%) 14 (50%) 28 (100%)

Population: 225 M (45%) 278 M (55%) 503 M (100%)

Potential coverage: 45% 55% 100%

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EU Patient Summary: bilingual implementation


Terminologies for Rare Disease data - ISCIII · NANDA‐NOC‐NIC +V SERAM SEMNim CMDIC CIE‐11 st...

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