REVIEW OF THE INTERNATIONAL CLASSIFICATION OF RARE DISEASES

2021 ◽  
Vol 9 (2) ◽  
pp. 18-20
Author(s):  
M.V. Protsenko ◽  
V.G. Serpik
Keyword(s):  
Rare Diseases ◽  
International Classification ◽  
Common Disease ◽  
New Classification ◽  
Disease Definition ◽  
Logical Unit

The article describes the principles of the international classification of rare diseases, proposed by the organization Orphanet. The supranosological nature of rare diseases predetermined the task of developing their new classification, which is more convenient for coding in the framework of their treatment than ICD-11, but coordinated with it. For these purposes, the international organi- zation Orphanet, formed in France in 1997, together with WHO, is developing an additional classification of rare diseases with the assignment of each noso- logical unit its own unique code based on the collection of information and the formation of its own database of their nomenclature. The Orphanet nomencla- ture includes the following elements: a unique Orpha disease code, a common or most common disease name, synonymous disease names, keywords often used to search for a given disease, if any, and the disease definition itself.

scholarly journals 2020: Renewing the Paradigms for Orofacial Pain

2021 ◽  
pp. 14-19
Author(s):  
Daniel Chavarría-Bolanos ◽  
Amaury Pozos-Guillén ◽  
Mauricio Montero-Aguilar
Keyword(s):  
Orofacial Pain ◽  
Positive Impact ◽  
International Association ◽  
International Health ◽  
International Classification ◽  
New Classification ◽  
Health Community ◽  
New Perspective ◽  
Definition Of

In 2020, two important changes were adapted by the international health community: a new definition of pain and a new classification for orofacial pain conditions. With these changes new tasks and challenges also emerged, and clinicians from several disciplines begun to adopt and reconsidered classic paradigms, and the policies derived from them. This new perspective article, examine the new definition of pain proposed by the International Association for the Study of Pain, and the new International Classification of Orofacial Pain; analyzing the positive impact and further perspectives of these.

scholarly journals The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Juan Rico ◽  
Luis Javier Echevarría-González de Garibay ◽  
María García-López ◽  
Sandra Guardiola-Vilarroig ◽  
Luis Alberto Maceda-Roldán ◽  
...  
Keyword(s):  
Healthcare System ◽  
Rare Diseases ◽  
International Classification Of Diseases ◽  
International Classification ◽  
Classification Of Diseases ◽  
Icd 10 ◽  
Group 3 ◽  
Group 2 ◽  
Group 1

Abstract Background Rare diseases present a wide spectrum of clinical manifestations and severity levels and are often poorly known and underrepresented, making them difficult to classify. Diagnoses are usually coded using the International Classification of Diseases (ICD), with its different versions. In Spain, the ICD-10-ES (stem from the ICD-10-CM–Clinical Modification) is used throughout the National Healthcare System since 2016, indistinctively including rare diseases that often lack a specific code. Orphanet aims to provide high-quality resources on rare diseases. The goal was to interrelate the Orphanet classification with the ICD-10-ES in order to engage a tool to track rare diseases diagnosis and characterize the improvement space for the identification of rare diseases patients in the Spanish Healthcare System. Methods 5775 disorder level ORPHAcodes were mapped to ICD-10-ES codes by comparing the descriptors associated in both classifications. ORPHAcodes were then clustered based on their assigned ICD-10-ES chapter and the redundancy of each individual ICD-10-ES code was calculated by counting the ORPHAcodes they mapped to. Three groups were established: Group 1 (1 ORPHAcode per ICD-10-ES), Group 2 (between 2–49 ORPHAcodes per ICD-10-ES) and Group 3 (≥ 50 ORPHAcodes per ICD-10-ES). Results Equivalences to 1700 ICD-10-ES codes were established for 5664 ORPHAcodes. The ORPHAcodes distribution within the ICD-10-ES showed an aggregation in the “Q” (> 40%), “G” (> 14%), and “E” (12%) chapters. The availability of ICD-10-ES codes to map ORPHAcodes reached its lowest at the “G” and “Q” chapters with less than 0.2 ICD-10-ES codes available per ORPHAcode. Global ICD-10-ES codes redundancy analysis revealed that only 1055 of the equivalences pertain to group 1. Group 2 contained 3358 equivalences with 634 ICD-10-ES codes while 1322 equivalences were group 3 (11 ICD-10-ES). Within ICD-10-ES chapters, “G” and “Q” contained over 30% and 45% of their own equivalences in the highest redundancy level (group 3) respectively, but under 10% one to one equivalences each (group 1). Conclusions ICD-10-ES codes have not enough specificity to identify rare diseases. Direct mapping between ICD and ORPHAcodes or the integration of ORPHAcodes at the healthcare system for diagnoses codification would enable better detection and epidemiological analysis of rare diseases.

scholarly journals The Interoperability Between the Spanish Version of the International Classification of Diseases and ORPHAcodes: Towards Better Identification of Rare Diseases

2020 ◽  
Author(s):  
Juan Rico ◽  
Luis Javier Echevarría González de Garibay ◽  
María García López ◽  
Sandra Guardiola Vilarroig ◽  
Luis Alberto Maceda Roldán ◽  
...  
Keyword(s):  
Healthcare System ◽  
Rare Diseases ◽  
International Classification Of Diseases ◽  
International Classification ◽  
Classification Of Diseases ◽  
Icd 10 ◽  
Group 3 ◽  
Group 2 ◽  
Group 1

Abstract BackgroundRare diseases present a wide spectrum of clinical manifestations and severity levels, and their main common trait is the low prevalence, making them difficult to classify. Diagnoses are usually coded using the International Classification of Diseases (ICD), with its different versions. In Spain, the ICD-10-ES (stem from the ICD-10-CM–Clinical Modification) is used throughout the National Healthcare System since 2016, indistinctively including rare diseases that often lack a specific code. ORPHAcode aims to provide high-quality resources on rare diseases. The goal was to interrelate the ORPHAcode classification with the ICD-10-ES in order to engage a tool to track rare diseases diagnosis and characterize the improvement space for the identification of rare diseases in the Spanish Healthcare System.Methods5,775 disorder level ORPHAcodes were mapped to ICD-10-ES codes by comparing the descriptors associated in both classifications. ORPHAcodes were then clustered based on their assigned ICD-10-ES chapter and the redundancy of each individual ICD-10-ES code was calculated by counting the ORPHAcodes they mapped to. Three groups were established: Group 1 (1 ORPHAcode per ICD-10-ES), Group 2 (between 2-49 ORPHAcodes per ICD-10-ES) and Group 3 (≥50 ORPHAcodes per ICD-10-ES).ResultsEquivalences to 1,700 ICD-10-ES codes were established for 5,664 ORPHAcodes. The ORPHAcodes distribution within the ICD-10-ES showed an aggregation in the “Q” (>40%), “G” (>14%), and “E” (12%) chapters. The availability of ICD-10-ES codes to map ORPHAcodes reached its lowest at the “G” and “Q” chapters with less than 0.2 ICD-10-ES codes available per ORPHAcode. Global ICD-10-ES codes redundancy analysis revealed that only 1,055 of the equivalences pertain to group 1. Group 2 contained 3,358 equivalences with 634 ICD-10-ES codes while 1,322 equivalences were group 3 (11 ICD-10-ES). Within ICD-10-ES chapters, “G” and “Q” contained over 30% and 45% of their own equivalences in the highest redundancy level (group 3) respectively, but under 10% one to one equivalences each (group 1).ConclusionsICD-10-ES codes have not enough specificity to identify rare diseases. Direct mapping between ICD and ORPHAcodes or the integration of ORPHAcodes at the healthcare system for diagnoses codification would enable better detection and epidemiological analysis of rare diseases.

Holistic Communication Assessment for Young Children With Cleft Palate Using the International Classification of Functioning, Disability and Health:Children and Youth

2020 ◽  
Vol 51 (4) ◽  
pp. 914-938
Author(s):  
Anna Cronin ◽  
Sharynne McLeod ◽  
Sarah Verdon
Keyword(s):  
Young Children ◽  
Cleft Palate ◽  
Case History ◽  
Significant Others ◽  
International Classification ◽  
Assessment Tools ◽  
International Classification Of Functioning ◽  
Speech Language Pathologists ◽  
Holistic Assessment

Purpose Children with a cleft palate (± cleft lip; CP±L) can have difficulties communicating and participating in daily life, yet speech-language pathologists typically focus on speech production during routine assessments. The International Classification of Functioning, Disability and Health: Children and Youth Version (ICF-CY; World Health Organization, 2007 ) provides a framework for holistic assessment. This tutorial describes holistic assessment of children with CP±L illustrated by data collected from a nonclinical sample of seven 2- to 3-year-old children, 13 parents, and 12 significant others (e.g., educators and grandparents). Method Data were collected during visits to participants' homes and early childhood education and care centers. Assessment tools applicable to domains of the ICF-CY were used to collect and analyze data. Child participants' Body Functions including speech, language, and cognitive development were assessed using screening and standardized assessments. Participants' Body Structures were assessed via oral motor examination, case history questionnaires, and observation. Participants' Activities and Participation as well as Environmental and Personal Factors were examined through case history questionnaires, interviews with significant others, parent report measures, and observations. Results Valuable insights can be gained from undertaking holistic speech-language pathology assessments with children with CP±L. Using multiple tools allowed for triangulation of data and privileging different viewpoints, to better understand the children and their contexts. Several children demonstrated speech error patterns outside of what are considered cleft speech characteristics, which underscores the importance of a broader assessment. Conclusion Speech-language pathologists can consider incorporating evaluation of all components and contextual factors of the ICF-CY when assessing and working with young children with CP±L to inform intervention and management practices.

Angststörungen – von der ICD-10 zur ICD-11

2020 ◽  
pp. 1-5
Author(s):  
Timo D. Vloet ◽  
Marcel Romanos
Keyword(s):  
Mental Disorders ◽  
International Classification Of Diseases ◽  
International Classification ◽  
Statistical Manual ◽  
Diagnostic And Statistical Manual ◽  
Dsm 5 ◽  
Classification Of Diseases ◽  
Icd 10

Zusammenfassung. Hintergrund: Nach 12 Jahren Entwicklung wird die 11. Version der International Classification of Diseases (ICD-11) von der Weltgesundheitsorganisation (WHO) im Januar 2022 in Kraft treten. Methodik: Im Rahmen eines selektiven Übersichtsartikels werden die Veränderungen im Hinblick auf die Klassifikation von Angststörungen von der ICD-10 zur ICD-11 zusammenfassend dargestellt. Ergebnis: Die diagnostischen Kriterien der generalisierten Angststörung, Agoraphobie und spezifischen Phobien werden angepasst. Die ICD-11 wird auf Basis einer Lebenszeitachse neu organisiert, sodass die kindesaltersspezifischen Kategorien der ICD-10 aufgelöst werden. Die Trennungsangststörung und der selektive Mutismus werden damit den „regulären“ Angststörungen zugeordnet und können zukünftig auch im Erwachsenenalter diagnostiziert werden. Neu ist ebenso, dass verschiedene Symptomdimensionen der Angst ohne kategoriale Diagnose verschlüsselt werden können. Diskussion: Die Veränderungen im Bereich der Angsterkrankungen umfassen verschiedene Aspekte und sind in der Gesamtschau nicht unerheblich. Positiv zu bewerten ist die Einführung einer Lebenszeitachse und Parallelisierung mit dem Diagnostic and Statistical Manual of Mental Disorders (DSM-5). Schlussfolgerungen: Die entwicklungsbezogene Neuorganisation in der ICD-11 wird auch eine verstärkte längsschnittliche Betrachtung von Angststörungen in der Klinik sowie Forschung zur Folge haben. Damit rückt insbesondere die Präventionsforschung weiter in den Fokus.

Sign in / Sign up

Export Citation Format

Share Document