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Discover the terms of the thesaurus
-
Social
- Conference
- internet
- Social media
-
Demography
-
Age Group
- Newborn
- Infant
- Child
- Adolescent
- Adult
- Old age
-
Family
- Parent
- Patient
- Patient group
-
Sex
- Female
- Male
-
Age Group
-
Institution
- European Parliament
-
Intergovernmental organisation
- African Union
-
United Nations
- NGO Committee for Rare Diseases
-
Health agency
- Agence de la biomedecine
- Agence nationale de l'évaluation et de la qualité des établissements et services sociaux et médico-sociaux
- Agence nationale de sécurité du médicament et des produits de santé
- Centers for Disease Control and Prevention
- Etablissement français du sang
- Haute autorité de santé
- Institut national du cancer
- Institut de veille sanitaire
- National Institute for Health and Care Excellence
- National Institutes of Health
- World Health Organization
-
Patient organisation
-
Patient alliance
- Rare Voices Australia
- Rare Diseases International
- New Zealand Organisation for Rare Diseases
- Canadian Organisation for Rare Diseases
- French Rare Diseases Alliance
- European Organisation for Rare Diseases
- Genetic Alliance
- Indian Organization for Rare Diseases
- National Organization for Rare Disorders
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Association française contre les myopathies
- Téléthon
- Généthon
-
Patient alliance
-
Ethics Committee
- Comité consultatif national d'éthique
-
Consortium
- ERICA
- Solve-RD
- Rare Disease Partnership
- Health Data Hub
- Rare 2030
- TEHDAS
- RD-Code
- European Joint Programme on Rare Diseases
- ERA-Net
- Orphanet
- Global Alliance for Genomics and Health
- Alliance nationale pour les sciences de la vie et de la santé
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European Research Infrastructure Consortium
- ELIXIR
- European Clinical Research Infrastructure Network
- Biobanking and Biomolecular Resources Research Infrastructure
- European Advanced Translational Research Infrastructure in Medicine
- European Infrastructure of Open Screening Platforms for Chemical Biology
- E-Rare
- International Rare Diseases Research Consortium
- RD-Action
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Company
- Biotechnology company
- Pharmaceutical company
- Les entreprises du médicament
-
Health care facility
- French rare disease networks
- Centre de compétences
- Centre of expertise
- European Reference Network
- Teaching hospital
-
Hospital
- Hôpital Necker-Enfants malades
-
Foundation
- Chan Zuckerberg Initiative
- French Rare Disease Foundation
- Fondation Groupama pour la santé
- Fondation de France
- Fondation pour la recherche médicale
-
Research institute
- Centre national de la recherche scientifique
- Institut français de bioinformatique
- Institut Imagine
- Institut national de la santé et de la recherche médicale
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Government agency
- Académie nationale de médecine
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Drug regulation agency
- African Medicines Agency
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European Medicines Agency
- Committee for Medicinal Products for Human Use
- Committee for Orphan Medicinal Products
- Food and Drug Administration
- Therapeutic Goods Administration
- Agence nationale de la recherche
- Agence régionale de santé
- Health Insurance (organisation)
-
European Commission
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DG Health
- Board of Member States of Cross-Border Health Care Directive
- European Union Committee of Experts on Rare Diseases
- Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases
- Rare Diseases Task Force
- Commission Expert Group on Rare Diseases
- DG Research & Innovation
- DG Enterprise & Industry
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DG Connect
- European Health Data Space
-
DG Health
-
Joint Research Centre
- European Platform on Rare Diseases Registration
- Comité national des registres
- Council of Europe
- European Council of Ministers
- Caisse nationale de solidarité pour l'autonomie
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State government
- Industry Ministry
- Research Ministry
- Health Ministry
-
National health system
- National Health Service UK
- European Court of Justice
-
Non-governmental organisation
- Red Cross
- Kanko
- French Rare Disease Platform
- Scientific society
- University
-
Information-Communication
- Monitoring
- Conference
-
Communication
- Publication announcement
- Information services
- Debate / Controversy
-
Event
- Summit
- Webinar
- Workshop / course
- Consensus conference
- Congress
- Marche des maladies rares
- Rare Disease Day
- Awards
- Telethon
-
Helpline
- French Rare Diseases Info Service
-
Health Information
- Awareness raising
-
Media
- Audiovisual
- Press
- Radio
-
Information and communications technology
- Mobile app
- Web of Things
- Social network
-
Document type
- Abstracts
- Review article
- Special issue
- GeneReviews
- Clinical Utility Gene Card
- Audit
- Handout
- Patient card
- Announcement
- News press release
- Figures
- Medical records
- Survey
- Case study
- Guideline
- Interview
- Petition
- Book
- Comic
- Protocoles nationaux de diagnostic et de soins
- Program (event)
- Report
- Annual Report
- Recommendation
- Directory
- Systematic review
- Website
- Statistics
- Testimony
- Video
- Podcast
-
Data
- Real life data
- FAIR data
- Digital transformation
- Open data
- Artificial intelligence
- Patient reported outcome measures
- Data Anonymization / Unidentifying
- Bioinformatics
- Computing development
- Interoperability
- Matchmaking
- Nosology
- Data sharing / Information sharing
-
Intellectual property
- Patent
- Trademark
- Data protection
-
Data storage
- Electronic health record
-
Database
- Banque nationale de données maladies rares
- Biobank
-
Cohort
- French Rare Disease Cohorts
- Orphadata
- Registry
-
Terminology / Codification
- Phenotyping
-
International Statistical Classification of Diseases and Related Health Problems
- ICD-9
- ICD-10
- ICD-11
- International Classification of Functioning, Disability and Health
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ORPHA nomenclature
- ORPHA codes
-
Ontology
- Disease Ontology
- Gene Ontology
- Human Phenotype Ontology
- Orphanet Rare Disease Ontology
- Medical Subject Headings
- Online Mendelian Inheritance in Man
- Systematized Nomenclature of Medicine - Clinical Terms
- Medical Dictionary for Regulatory Activities
- Unified Medical Language System
-
Medicine
- Access to diagnosis
- Access to medicines
-
Access to health care
- Healthcare disparities
- Health equity
-
Biotherapy
-
Immunotherapy
- Monoclonal antibodies
-
Gene therapy
- Gene Editing
- Clustered Regularly Interspaced Short Palindromic Repeats
- Gene surgery
- ARN interference
- Reading frame restoration
- Exon skipping
- Direct DNA transfer
- Therapeutic gene transfer
- Transgenesis
- Genetic vector
- Cellular therapy
- Blood transfusion
- Enzyme Replacement Therapy
- Mitochondrial Replacement Therapy
-
Immunotherapy
-
Standards of care
- Clinical standards of care
- Research standards
- Fetal surgery
- Genetic counselling
-
Consultation
- Pluridisciplinary consultation
-
Screening
- Familial screening
- Neonatal screening
-
Non invasive prenatal screening
- Fetal ultrasonography
-
Diagnosis
- Undiagnosed
- Pharmacogenetics
- Risk assessment (disease)
- Somatic genetics
-
Diagnosis objective
- Bacteriology (Diagnosis)
- Biochemical genetics (Diagnosis)
- Cytogenetics / Cytogenetic Analysis (Diagnosis)
- Molecular genetics (Diagnosis)
- Hematology (Diagnosis)
- Immunology (Diagnosis)
- Mycology (Diagnosis)
- Parasitology (Diagnosis)
- Pathology (Diagnosis)
- Virology (Diagnosis)
-
Diagnosis technical procedure
- Multiplex ligation-dependent probe amplification based techniques
- Deletion / Duplication analysis
- Methylation analysis
- Targeted mutation analysis
- Chromosome breakage analysis
- Karyotyping
- Mutation scanning/screening and sequence analysis of selected exons
- Detection of chromosome alterations large in size
- Detection of microdeletions / microduplications
- Analyte / Enzyme assay
- Protein expression
- Fluorescent in situ hybridization
- Multicolor fluorescent in situ hybridization / Spectral karyotyping
- Immunohistochemistry
- Microsatellite analysis
- Polymerase chain reaction based techniques
- Bisulfite pyrosequencing
- Uniparental disomy study
- Chromosomal instability research
- Sequence analysis: entire coding region
- Next-generation sequencing
- Next-generation sequencing (except Whole Exome Sequencing)
- Sanger sequencing
- Very high-throughput sequencing
- Array based techniques
- Western blot
- Whole exome sequencing
- Announcement of diagnosis
-
Diagnostic marker
- Biomarker
- Diagnostic criteria
- Incidental finding
- Differential diagnosis
- Neonatal diagnosis
- Early diagnosis
- Preimplantation diagnosis
-
Prenatal diagnosis
- Amniocentesis
- Chorionic villus sampling
- Fetoscopy
- Presymptomatic diagnosis
- Delayed diagnosis
- Diagnosis error
- Diagnostic test
- Medical device
- Patient education
- Medical imaging
- Medical education / Continuing medical education
- Hospitalisation
-
Medical innovation
- Therapeutic innovation
- Alternative medicine
- Evidence-based medicine
- Medical profession
- Personalized medicine
-
Patient care management
- Health care network
- Assisted reproductive technology
-
Prescription
- e-Prescription
-
Prevention
- Vaccine
- Prognosis
- Medical management
- Professional-patient relation
- Home care service
- Nursing
- Palliative care
- Cross-border healthcare
-
Medical speciality
- Allergy (Speciality)
- Pathology (Speciality)
- Anesthesia
- Angiology
- Clinical oncology
- Cardiology
- Surgery
- Dermatology
- Embryology
- Endocrinology
- Gastroenterology
- Medical genetics
- Geriatrics
- Gynecology
- Hematology
- Hepatology
- Immunology
-
Infectious Disease Medicine
- COVID-19
- Disaster Medicine
- Clinical medicine
- Reproductive medicine
- Sports medicine
- Occupational medicine
- Emergency care
- Environmental medicine
- General practice
- Humanitarian medicine
- Internal medicine
- Forensic medicine
- Military medicine
- Naval Medicine
- Nuclear medicine
- Nutrition medicine
- Physical and rehabilitation medicine
- Predictive medicine
- Preventive medicine
- Psychosomatic medicine
- Regenerative medicine
- School health
- Tropical medicine
- Myology
- Neonatology
- Nephrology
- Neurobiology
- Neurology
- Neuropsychology
- Ophthalmology
- Orthopedics
- Otorhinolaryngology
- Paediatrics
- Pharmacology
- Phlebology
- Phoniatrics
- Pneumonology
- Psychiatry
- Rheumatology
- Sexology
- Stomatology
- Addiction study
- Toxicology
- Traumatology
- Urology
- Venereology
-
Paramedical speciality
- Occupational therapy
- Kinesitherapy
- Dentistry
- Speech therapy
- Podiatry
- Clinical psychology
- Psychomotor education
- Child care
- Radiology
- Follow-up study
-
Health care quality
- Healthcare quality assurances
- Health services evaluation
-
eHealth
- Teleconsultation
- Teleanatomopathalogy
- Telegenetics
- Teleradiology
- Transplantation
-
Health policy
- Ethics
-
Bioethics
- Conflict of interest
- Professional ethics
-
Health economics
- Health technology assessment
- Cost-benefit analysis
- Public-private partnership
-
Health care cost
- Out-of-pocket cost
- Drug cost
- Hospital cost
- Health insurance reimbursement
- Drug cost effectiveness
- Health expenditures
- Uncompensated care
- Investments
- Health care sector
- Health care rationing
- Drug reimbursement
- Health technologies evaluation study
-
Legislation
- Declaration
- UN Resolution on on Persons Living with a Rare Disease
- Treaty
- Orphan Drug Act 1984
- Pediatric Medicines Regulation
-
EC Communication
- Commission Communication: Rare Diseases - Europe's Challenges
- Administrative order
- Circular
- Decree
- Court decision
-
European directive
-
Cross-Border Healthcare Directive (2011)
- National Contact Point
- Good Clinical Practice Directive (2001)
-
Cross-Border Healthcare Directive (2011)
-
Patient rights
- Patient engagement
- Patient empowerment
- Healthcare accessibility
- Informed consent
- Patient access to records
- Treatment refusal
- Health law
-
Health program
- National Rare Disease Scheme / National Rare Cancer Scheme
- Expert Center labeling procedure
- European Union Health Programme
-
Recommendation of the Council of Ministers of the European Union
- Recommandation on an Action in the field of Rare Diseases (2009)
-
European Union regulation
- Regulation on orphan medicinal products (1999)
- General Data Protection Regulation (2016)
-
Drug regulation
- Advanced therapy medicinal products
-
Drug development
- Drug repurposing
- Generic
- Orphan designation withdrawal
- Therapeutic indication withdrawal
- Drug recall
-
Drug approval
-
marketing authorisation
- Market authorisation
-
marketing authorisation
- Compassionate use
- Biosimilar
- Orphan designation
- Drug cost regulation
- Market exclusivity
-
Orphan drug
- off label
- Side effect
- Therapeutic indication
- Clinical added value of Orphan Medical Products
- Pharmacovigilance
- Paediatric Investigation Plan
- Recommandation temporaire d'utilisation
- Service médical rendu
-
Public health
- Patient experience
- Mental health
- Unmet medical need
-
Epidemiology
- Incidence
- prevalence
- Life expectancy
- Risk factor
- Morbidity
- Mortality
-
Health status indicators
- Health status
- Quality-adjusted life year
- Quality of life
- Morbidity rate
- Mortality rate
- Delivery of health care
-
Research
- Research methods
- Person-centred research
- Qualitative research
- Human Variome Project
- Call for projects
- Grant
- Scientific collaboration
-
Research funding
- Horizon 2020
- Horizon Europe
- Funding of research by non-profit organisations
- European funding of research
- Crowdfunding of research
- Private funding of research
- Government funding of research
- Animal experimentation
- Research policy
-
Clinical Research
- Natural History
-
Clinical trial
- Clinical trial design
- Observational study
- Patient-centered outcomes
- Patient-reported outcomes
- Epidemiological research
- Fundamental research
- Translational research
-
Preclinical research
- Therapeutic Research
- Social science
-
Disability
-
Accessibility
- Cultural accessibility
- Accessibility of information
- Accessibility of places
- Accessibility of tools
-
Supportive care
-
Familial support
- Baby-sitting
- Respite care
- Professional support
- Psychological support
- End-of-life supportive care
-
Educative support
- School assistant
- University assistant
- Referring teacher
- Handiscol
- Sexual support
-
Social support
- Social worker
- Assistant for social life
- Integration assistant
- Help for helpers
- Helping animal
-
Caregiver
- Natural caregiver
- Professional caregiver
- Technical aid (device)
- Right to supportive care
-
Home support
- Home assistant
- Night assistant
- Daily life assistant
-
Familial support
-
Specialised institution
- Functional and motor rehabilitation center
- Medical and social institutions for adults
- Medical and social institution for children and teenagers
- Home for the aged
-
Social integration
-
Employment of disabled people
- Familial employment
- Employer of disabled people
- Professional integration
- Requirement to employ disabled people
- Adapted work
- Sheltered work
- Leisure for disabled people
- Transition to ordinary employement
-
School integration for disabled people
- Disabled pupils
- Distance learning
- Schooling follow-up team
- Disabled students
- Integrascol
- Personal schooling plan
- Homeschooling
- Hospital schooling
- Schooling in an ordinary environment
- Specialised schooling
-
Employment of disabled people
-
Disability policy
- Groupement National de Coopération Handicaps Rares
- Equipes Relais Handicaps Rares
-
Financial help for disabled people
- Allocation compensatrice pour frais professionnels
- Allocation de compensation pour tierce personne
- Allocation d'éducation de l'enfant handicapé
- Complementary allowance
- Help for Severely Dependant People (French administration)
- Garantie de ressources pour les personnes handicapées
- Disability pension
- Prestation de compensation du handicap
- Allocation personnalisée d'autonomie
- European year of people with disabilities (2003)
- Committee on the rights of persons with disabilities
- Interdepartmental representative for disabled people (French administration)
- French departmental system for autonomous life
-
Rights of disabled people
- Right to compensation
- Right to respite care
-
Disability compensation
- Incapacity insurance
- French badge for disabled people
- Disability card
- Life plan
- Etats généraux du handicap
- French disability law (1975)
- French law on employment of disabled persons (1987)
- French disability law (2005)
-
Support group for disabled people
- Association de gestion du fonds pour l’insertion des personnes handicapées
- Comité national de coordination de l'action en faveur des personnes handicapées
- Commission des droits et de l'autonomie des personnes handicapées
- Conseil départemental consultatif des personnes handicapées
- Commission départementale de l'éducation spéciale
- Thematic resource centre
- Coordination handicap locale
- Centre d'information et de conseil sur les aides techniques
- Conseil national consultatif des personnes handicapées
- Comité national français de liaison pour la réadaptation des handicapés
- Commission technique d'orientation et de reclassement professionnel
- Adapted corporation
- Etablissement et service d'aide par le travail
- Fonds départemental de compensation
- Fonds pour l'insertion des personnes handicapées dans la fonction publique
- Maison départementale des personnes handicapées
- Plan personnalisé de compensation
- HELIOS programme
- Disabled reclassification
- Recognition of disabled worker status
- Schéma national handicap rare
- Centre national de ressources handicap rare
- Groupement de centres de ressources handicap rare
-
Psychology of disability
- Acceptance of disability
- Announcement of disability
- Denial of disability
- Representation of disability
- Experience of disability
- Disability research
-
Support services
- Agence nationale des services à la personne
- Chèque emploi service universel
- In-home help
- Support services for the disabled
- Health and social care
- Integration into social life
- In-home healthcare and specialised education
- In-home nursing
- Transition to adulthood
-
Disability situation
- Activity restriction
- Participation restriction
- Mild Impairment
- Moderate Impairment
- Deep Impairment
- Complete Impairment
- Autonomy
- Severe dependency
- Functional evaluation
- Evolution of disability
- Intellectual disability
- Physical disability
- Psychomotor disorder
-
Sensory disorder
- Hearing disorder
- Visual disorder
- Multiple disabilities
- Plurihandicap
- Rare disability
- Disabling disease
-
Disabled people
- Disabled parent
- Disabled child
- People with reduced mobility
-
Accessibility
-
Biology
- Genomics
- Cellular biology
- Developmental biology
- Molecular biology
- Biopharmacology
-
Biotechnology
- Biomaterial
- Nanotechnolgy
- Tissue preservation
- Cytology
- Metabolomics
- Gene mutation
- Neurosciences
- Proteomics
-
Human tissue
-
Stem cell
- Embryonic stem cell
- Adult stem cell
- Hematopoetic stem cell
- Induced pluripotent stem cell
- Sample / Specimen
- Human embryo
- Fœtus
- Graft
- Blood product
-
Stem cell
-
Geography
-
Middle East
- United Arab Emirates
- Iran
- Israel
- Lebanon
- Turkey
- Saudi Arabia
- Qatar
-
Africa
- Zambia
- South Africa
- Algeria
- Cameroon
- Egypt
- Morocco
-
America
-
North America
- Canada
- United States
- Mexico
-
South America
- Chile
- Peru
- Argentina
- Brazil
- Colombia
-
North America
-
Asia
- Nepal
- Vietnam
- Sri Lanka
- Bhutan
- Malaysia
- Hong Kong
- Kazakhstan
- Pakistan
- China
- South Korea
- India
- Japan
- Russia
- Singapore
-
Europe / European Union
- Albania
- Cyprus
- Ukraine
- Slovenia
- Serbia
- Bulgaria
- Germany
- Austria
- Belgium
- Croatia
- Denmark
- Spain
- Finland
-
France
- Paris
- Greece
- Hungary
- Ireland
- Italy
- Luxembourg
- Macedonia
- Malta
- Norway
- Netherlands
- Poland
- Portugal
- Czech Republic
- Romania
-
United Kingdom
- Wales
- Scotland
- Northern Ireland
-
England
- Oxford
- Sweden
- Switzerland
-
Oceania
- Australia
- New Zealand
-
Middle East
-
Rare disease
- Rare disease policy
- European Action Plan for Rare Diseases
-
National Plan
- French National Genomics Plan 2025
-
Rare cancer
- Joint Action on Rare Cancers
