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The ICD coding for rare diseases is the International Classification of Diseases code used for the purpose of documenting rare diseases. It is important for health insurance reimbursement, administration, epidemiology, and research. Of the approximately 7,000 rare diseases, only about 500 have a specific code. However, more than 5400 [1] rare diseases are included in ICD-11 and can be recorded using an ICD-11 URI.[ clarification needed ] An ICD code is needed for a person's medical records—it is important for health insurance reimbursement, administration, epidemiology, and research. Finding the best ICD code for a patient who has a rare disease can be a challenge. [2]
Different versions of the ICD code exist worldwide. The United States currently uses the ICD-10-CM, a Clinical Modification of the World Health Organization standard for diagnoses adapted for insurance reimbursement and billing purposes. This version allows for further breakdown of a code, which increases diagnosis specificity. Currently, published material that reference ICD-9-CM codes, which were used before October 1, 2015;[ clarification needed ] however, not every code in the ICD-9-CM has a corresponding code in ICD-10-CM. Europe and other parts of the world use the ICD-10. The root codes for ICD-10 and ICD-10-CM are the same, making it helpful for locating codes for general body systems and disease processes. [2] [3]
In ICD-11 the search and coding of any disease, including rare ones is done via the ICD-11 website. [4] Retaining detailed information about every individual rare diseases is best done with the URI in ICD-11. [5]
Several online resources can help locate ICD codes:
A good place to start is to contact an advocacy organization for the rare disease. These organizations are often aware of how the condition has been coded for other patients with the same diagnosis and may be able to recommend one or more codes to use. Many disease advocacy organizations also have medical advisory boards or physician directories, which can help to find someone with experience coding for that particular condition. A search can be done on the Genetic and Rare Diseases website for a list of disease advocacy organizations. A Genetic and Rare Diseases information specialist can be contacted directly for assistance. [2]
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Orphanet outlines the ICD-10 coding rules for rare diseases included in their database. The Orphanet database also often includes coding information for the Online Mendelian Inheritance in Man, the Unified Medical Language System, and more. When a diagnosis has not been established, or when a code does not exist for a specific rare disease, general coding guidelines indicate that it is acceptable to use codes that describe signs and symptoms. [2]
The International Classification of Diseases (ICD) is a globally used medical classification used in epidemiology, health management and for clinical purposes. The ICD is maintained by the World Health Organization (WHO), which is the directing and coordinating authority for health within the United Nations System. The ICD is originally designed as a health care classification system, providing a system of diagnostic codes for classifying diseases, including nuanced classifications of a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or disease. This system is designed to map health conditions to corresponding generic categories together with specific variations, assigning for these a designated code, up to six characters long. Thus, major categories are designed to include a set of similar diseases.
Nosology is the branch of medical science that deals with the classification of diseases. Fully classifying a medical condition requires knowing its cause, the effects it has on the body, the symptoms that are produced, and other factors. For example, influenza is classified as an infectious disease because it is caused by a virus, and it is classified as a respiratory infection because the virus infects and damages certain tissues in the respiratory tract. The more that is known about the disease, the more ways the disease can be classified nosologically.
A rare disease is a disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases.
Diagnosis-related group (DRG) is a system to classify hospital cases into one of originally 467 groups, with the last group being "Ungroupable". This system of classification was developed as a collaborative project by Robert B Fetter, PhD, of the Yale School of Management, and John D. Thompson, MPH, of the Yale School of Public Health. The system is also referred to as "the DRGs", and its intent was to identify the "products" that a hospital provides. One example of a "product" is an appendectomy. The system was developed in anticipation of convincing Congress to use it for reimbursement, to replace "cost based" reimbursement that had been used up to that point. DRGs are assigned by a "grouper" program based on ICD diagnoses, procedures, age, sex, discharge status, and the presence of complications or comorbidities. DRGs have been used in the US since 1982 to determine how much Medicare pays the hospital for each "product", since patients within each category are clinically similar and are expected to use the same level of hospital resources. DRGs may be further grouped into Major Diagnostic Categories (MDCs). DRGs are also standard practice for establishing reimbursements for other Medicare related reimbursements such as to home healthcare providers.
Case mix, also casemix and patient mix, is a term used within healthcare as a synonym for cohort; essentially, a case mix groups statistically related patients. An example case mix might be male patients under the age of 50, who present with a myocardial infarction and also undergo emergency coronary artery bypass surgery.
Medical billing is a payment practice within the United States healthcare system. The process involves the systematic submission and processing of healthcare claims for reimbursement. Once the services are provided, the healthcare provider creates a detailed record of the patient's visit, including the diagnoses, procedures performed, and any medications prescribed. This information is translated into standardized codes using the appropriate coding system, such as ICD-10-CM or Current Procedural Terminology codes—this part of the process is known as medical coding. These coded records are submitted by medical billing to the health insurance company or the payer, along with the patient's demographic and insurance information. Most insurance companies use a similar process, whether they are private companies or government sponsored programs. The insurance company reviews the claim, verifying the medical necessity and coverage eligibility based on the patient's insurance plan. If the claim is approved, the insurance company processes the payment, either directly to the healthcare provider or as a reimbursement to the patient. The healthcare provider may need to following up on and appealing claims.
The International Classification of Functioning, Disability and Health (ICF) is a classification of the health components of functioning and disability.
A medical classification is used to transform descriptions of medical diagnoses or procedures into standardized statistical code in a process known as clinical coding. Diagnosis classifications list diagnosis codes, which are used to track diseases and other health conditions, inclusive of chronic diseases such as diabetes mellitus and heart disease, and infectious diseases such as norovirus, the flu, and athlete's foot. Procedure classifications list procedure code, which are used to capture interventional data. These diagnosis and procedure codes are used by health care providers, government health programs, private health insurance companies, workers' compensation carriers, software developers, and others for a variety of applications in medicine, public health and medical informatics, including:
Procedure codes are a sub-type of medical classification used to identify specific surgical, medical, or diagnostic interventions. The structure of the codes will depend on the classification; for example some use a numerical system, others alphanumeric.
In health care, diagnosis codes are used as a tool to group and identify diseases, disorders, symptoms, poisonings, adverse effects of drugs and chemicals, injuries and other reasons for patient encounters. Diagnostic coding is the translation of written descriptions of diseases, illnesses and injuries into codes from a particular classification. In medical classification, diagnosis codes are used as part of the clinical coding process alongside intervention codes. Both diagnosis and intervention codes are assigned by a health professional trained in medical classification such as a clinical coder or Health Information Manager.
The International Classification of Health Interventions (ICHI) is a system of classifying procedure codes being developed by the World Health Organization (WHO). It is currently available as a beta 3 release. The components for clinical documentation are stable. The component on public health interventions is in the process of being finalized. Updates on development and status of the classification are listed on WHO home page.
MEDCIN, a system of standardized medical terminology, is a proprietary medical vocabulary and was developed by Medicomp Systems, Inc. MEDCIN is a point-of-care terminology, intended for use in Electronic Health Record (EHR) systems, and it includes over 280,000 clinical data elements encompassing symptoms, history, physical examination, tests, diagnoses and therapy. This clinical vocabulary contains over 38 years of research and development as well as the capability to cross map to leading codification systems such as SNOMED CT, CPT, ICD-9-CM/ICD-10-CM, DSM, LOINC, CDT, CVX, and the Clinical Care Classification (CCC) System for nursing and allied health.
The classification of transsexual and gender non-conforming people into distinct groups has been attempted since the mid-1960s.
A clinical coder—also known as clinical coding officer, diagnostic coder, medical coder, or nosologist—is a health information professional whose main duties are to analyse clinical statements and assign standardized codes using a classification system. The health data produced are an integral part of health information management, and are used by local and national governments, private healthcare organizations and international agencies for various purposes, including medical and health services research, epidemiological studies, health resource allocation, case mix management, public health programming, medical billing, and public education.
ICD-10 is the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. Work on ICD-10 began in 1983, became endorsed by the Forty-third World Health Assembly in 1990, and was first used by member states in 1994. It was replaced by ICD-11 on January 1, 2022.
Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks.
The Healthcare Cost and Utilization Project is a family of healthcare databases and related software tools and products from the United States that is developed through a Federal-State-Industry partnership and sponsored by the Agency for Healthcare Research and Quality (AHRQ).
The ICD-11 is the eleventh revision of the International Classification of Diseases (ICD). It replaces the ICD-10 as the global standard for recording health information and causes of death. The ICD is developed and annually updated by the World Health Organization (WHO). Development of the ICD-11 started in 2007 and spanned over a decade of work, involving over 300 specialists from 55 countries divided into 30 work groups, with an additional 10,000 proposals from people all over the world. Following an alpha version in May 2011 and a beta draft in May 2012, a stable version of the ICD-11 was released on 18 June 2018, and officially endorsed by all WHO members during the 72nd World Health Assembly on 25 May 2019.
In genetics and genetic epidemiology, a phenome-wide association study, abbreviated PheWAS, is a study design in which the association between single-nucleotide polymorphisms or other types of DNA variants is tested across a large number of different phenotypes. The aim of PheWAS studies is to examine the causal linkage between known sequence differences and any type of trait, including molecular, biochemical, cellular, and especially clinical diagnoses and outcomes. It is a complementary approach to the genome-wide association study, or GWAS, methodology. A fundamental difference between GWAS and PheWAS designs is the direction of inference: in a PheWAS it is from exposure to many possible outcomes, that is, from SNPs to differences in phenotypes and disease risk. In a GWAS, the polarity of analysis is from one or a few phenotypes to many possible DNA variants. The approach has proven useful in rediscovering previously reported genotype-phenotype associations, as well as in identifying new ones.
The ICD-10 Clinical Modification (ICD-10-CM) is a set of diagnosis codes used in the United States of America. It was developed by a component of the U.S. Department of Health and Human services, as an adaption of the ICD-10 with authorization from the World Health Organization. In 2015, ICD-10-CM replaced ICD-9-CM as the federally mandated classification. Annual updates are provided.
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