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This presentation is part of the joint action Direct Grant N°831390 which has received funding from the European Union’s Health Programme (2014-2020).
The content of this Orphanet Report Series represents the views of the author only and is his/her sole responsibility; it can not be considered to reflect the views of the European Commission and/or the Consumers,
Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it
contains.
ORPHANET NOMENCLATURE: the ORPHAcodes
Hospital Managers Meeting - 16/05/2019, Hôpital Saint-Louis Lariboisière, Paris
Ana Rath, Annie Olry
Orphanet - Inserm US14, France
www.orpha.net
Improved codification for rare diseases is cited as a
priority in the Council Recommendation on an action in
the field of rare diseases (2009)
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How big is the RD problem?
• How many patients with a RD in
– A given country?
– In Europe?
• How big is the economical burden of RD?
• How long is the time to diagnosis?
• How efficient are the policies for RD?
• …
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Example
• Western Australia population-based study on a cohort of RD patients captured through Orpha-ICD10-AM mappings = 467 Orphacodes
– 61,279 patients
– 2% of WA population at the end of the period (73,8% of initial cohort)
• 11,5-years
• In-hospital expenditure
• >900,000 discharges for 61,279 over the 11,5 y period
• In 2010, 10,5% of total inhospital expenditure was due to (identified) RD
– Discharge/RD patient twice discharge/patient with other pathologies
– Average LOS 5,5 days vs 2,9 days
– Cost/discharge for RD 3,000 AUD higher than cost/discharge other causes
– 1,4-3,1 billion Euros/year
• The study pinpoints the need for proper codification for RD
• The use of Orphacodes in WA health system is now decided (MoH)
Walker, Caroline E., et al. "The collective impact of rare diseases in Western Australia: an estimate using a
population-based cohort." Genetics in Medicine 19.5 (2017): 546.
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Europe map of RD coding
5
http://www.rd-action.eu/workpackage/workpackage-5/
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How many RD are included in medical terminologies?
• ICD-10
– 559 specific codes matching Orphanet rare
disease entities (including groups of diseases)
(= EXACT mappings)
– 513 inclusion terms matching Orphanet RD entities
– 204 index terms matching Orphanet RD entities
→ Total: only 1276 Orphanet RD entities with an ICD-
10 mention
But all ORPHA entries have been attributed an
ICD10 code
• ICD-11
– 60% of Orphanet RD in JMMLS
• SNOMED CT
– Collaboration ongoing: mapping file to be distributed in
2019 with SNOMED CT to licensed countries
– 77,6% RD coverage
• OMIM
– 51,65% coverage (EXACT mappings)
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Why Orphacodes will always be needed?
• In the hypothesis that ICD-11 and SNOMED-CT have 100% coverage
– RD are diseases amongst all diseases
• No indication of rarity
– RD are classified together with common diseases
• No possible aggregation by groups of RD
– The way RD are classified is not always curated by RD experts
– Updates (performed by Orphanet) remain a challenge
– Cross-border interoperability ensured through Orpha nomenclature
• Orphanet commits to maintain mapping files.
7
www.orpha.net
Orphanet RD nomenclature
• The only nomenclature specific for RD
• Unique, stable ORPHA number
• Definitions
• 9 languages (Cz, En, Es, De, Fr, It, Nl, Pt, Pl)
• Peer-reviewed publications only (2 cases<RD<1/2000)
ORPHA number Preferred label Synonyms
ORPHA:98672 Autosomal dominant optic atrophy ADOA
ORPHA:893 WAGR syndrome Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
ORPHA:231169 Usher syndrome type 1 USH1
Around 6,000 Rare Diseases
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Logical structure
Group: Category, clinical group
Disorder: statistical reporting
• Disease, clinical syndrome, malformation syndrome, morphological anomaly, biological anomaly, particular clinical situation
Subtype:
• Etiological, clinical, histopathological
Com
ple
xity
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Interoperability
Orphanet central nomenclature
Research Registries/Cohorts/
Biobanks
Care Health Information
System (EHRs)
Genes: • HGNC • OMIM • ensembl • Genatlas Proteins: • UniProt Pathways: • Reactome Targets & compounds: • IUPHAR
OMIM
ICD10/11
UMLS
MedDRA
Genes
Disabilities Phenotypes
SNOMED
Terminologies
Orphan Drugs
GARD
E NTBT BTNT …
Frequency Severity
Temporality
Frequency Dx criterion
Pathognomonic
Causality Susceptibility
Modifier …
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Where to retrieve the ORPHAcodes
www.orpha.net
www.orphadata.org
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THANK YOU!
« If we cannot count rare diseases patients,
rare diseases patients do not count »
Gareth Baynam
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Coding a patient with the nomenclature
First option
Search in the nomenclature
just like in a dictionary
• Several results
• Level of precision is unknown
• Relationships between
ORPHA are unknown
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Coding a patient with the classification Second option
Search in the nomenclature and confirm your choice within the classification
Rare neurological disease disease
Leukodystrophy
Krabbe Pelizaeus-Merzbacher-like Pelizaeus-Merzbacher
Infantile Adult
Alexander Canavan
Type 1 Type 2 Severe Mild Late-
infantile Connatal Classic Transitional Carriers
www.orpha.net
Second option
Search in the nomenclature and confirm your choice within the classification
Rare neurological disease disease
Leukodystrophy
Krabbe Pelizaeus-Merzbacher-like Pelizaeus-Merzbacher
Infantile Adult
Alexander Canavan
Type 1 Type 2 Severe Mild Late-
infantile Connatal Classic Transitional Carriers
Coding a patient with the classification
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Refine the diagnosis
Rare neurological disease disease
Leukodystrophy
Krabbe Pelizaeus-Merzbacher-like Pelizaeus-Merzbacher
Infantile Adult
Alexander Canavan
Type 1 Type 2 Severe Mild Late-
infantile Connatal Classic Transitional Carriers
Allow for improvement in the precision of diagnosis
www.orpha.net
Diagnosis pathway
Rare neurological disease disease
Leukodystrophy
Krabbe Pelizaeus-Merzbacher-like Pelizaeus-Merzbacher
Infantile Adult
Alexander Canavan
Type 1 Type 2 Severe Mild Late-
infantile Connatal Classic Transitional Carriers
www.orpha.net
Diagnosis pathway
Rare neurological disease disease
Leukodystrophy
Krabbe Pelizaeus-Merzbacher-like Pelizaeus-Merzbacher
Infantile Adult
Alexander Canavan
Type 1 Type 2 Severe Mild Late-
infantile Connatal Classic Transitional Carriers
www.orpha.net
Diagnosis pathway
Rare neurological disease disease
Leukodystrophy
Krabbe Pelizaeus-Merzbacher-like Pelizaeus-Merzbacher
Infantile Adult
Alexander Canavan
Type 1 Type 2 Severe Mild Late-
infantile Connatal Classic Transitional Carriers
Allow for assessment of the diagnosis pathway
www.orpha.net
Unsolved cases
Rare neurological disease disease
Leukodystrophy
Krabbe Pelizaeus-Merzbacher-like Pelizaeus-Merzbacher
Infantile Adult
Alexander Canavan
Type 2 Severe Mild Late-
infantile Connatal Classic Transitional Carriers Type 1
Allow for identification of patients even without a confirmed diagnosis
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Aggregation of data: from local to european level
Rare neurological disease disease
Leukodystrophy
Krabbe Pelizaeus-Merzbacher-like Pelizaeus-Merzbacher
Infantile Adult
Alexander Canavan
Type 1 Type 2 Severe Mild Late-
infantile Connatal Classic Transitional Carriers
Sound data for epidemiological estimate of the 6,000 RD
Independently of the precision of the diagnosis
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Aggregation of data: from local to European level
Rare neurological disease disease
Leukodystrophy
Krabbe Pelizaeus-Merzbacher-like Pelizaeus-Merzbacher
Infantile Adult
Alexander Canavan
Type 1 Type 2 Severe Mild Late-
infantile Connatal Classic Transitional Carriers
Answer many and varied questions in different settings
How many patients suffering from leukodystrophy are seen within a European network?
