From the Guidelines
ORPHA:180257 refers to a specific rare disease or disorder as classified by Orphanet, the Reference portal for information on rare diseases and orphan drugs. According to the information provided by Orphanet, as mentioned in the study published in Genetics in Medicine 1, Orphanet is a comprehensive database that provides information on rare diseases, including their diagnosis, care, and treatment. The classification ORPHA:180257 is part of this database, which aims to improve the diagnosis, care, and treatment of patients with rare diseases.
To understand what ORPHA:180257 specifically refers to, it's essential to consult the Orphanet database directly, as the provided study does not explicitly mention the condition associated with this code. However, the study highlights the importance of Orphanet and other databases like the Human Phenotype Ontology (HPO) in standardizing and providing access to information on rare genetic conditions. The HPO, for instance, contains approximately 11,000 terms and over 115,000 annotations to hereditary diseases, making it a valuable resource for clinicians and researchers 1.
Given the context and the purpose of Orphanet, it is crucial for healthcare professionals to use such databases to accurately diagnose and manage rare conditions, including those classified under specific ORPHA codes. This approach ensures that patients receive the most appropriate care based on the latest knowledge and research in the field of rare diseases. Regular updates and access to comprehensive databases like Orphanet are vital for improving patient outcomes, as emphasized by the study on the integration of genomics into clinical practice 1.
In clinical practice, healthcare providers should prioritize consulting Orphanet and other reputable databases to understand the specifics of a condition like ORPHA:180257, including its symptoms, genetic causes, management options, and the importance of genetic counseling for family members. This approach aligns with the recommendations for the integration of genomics into clinical practice, which stress the importance of using high-quality, up-to-date resources to guide patient care 1.
From the Research
Definition of ORPHA
- ORPHA is a coding system used to represent rare diseases in health information systems, as described in the study by 2.
- The Orphanet database, which uses ORPHA codes, contains information on over 6,000 unique rare diseases, with 71.9% of them being genetic and 69.9% having exclusively pediatric onset, as reported in the study by 3.
Purpose of ORPHA Codes
- ORPHA codes are used to provide a unique identifier for rare diseases, allowing for better representation and visibility in health information systems, as stated in the study by 4.
- The use of ORPHA codes can help to improve the accuracy of rare disease diagnosis and treatment, as well as facilitate research and development of new therapies, as discussed in the study by 5.
Relationship to Other Coding Systems
- ORPHA codes are mapped to other coding systems, such as the International Classification of Diseases (ICD), SNOMED CT, and MeSH, to facilitate interoperability and data sharing, as described in the study by 2.
- The Orphanet database also cross-references genes with other databases, such as HGNC, UniProt, and OMIM, to provide a comprehensive view of rare diseases, as reported in the study by 2.
Global Significance of ORPHA Codes
- The use of ORPHA codes can help to estimate the global prevalence of rare diseases, which is estimated to affect 3.5-5.9% of the population, or 263-446 million people worldwide, as reported in the study by 3.
- The adoption of ORPHA codes can also facilitate international collaboration and research on rare diseases, as well as improve patient care and outcomes, as discussed in the study by 6.