Rare disease assumption
Rare disease assumption
Rare disease assumption (pronunciation: râr dĭ-zēz ə-sŭm′shən) is a concept in medical genetics and epidemiology that suggests that a rare genetic disorder is unlikely to occur in an individual without a family history of the disorder. This assumption is often used in genetic counseling and genetic testing to assess the likelihood of a person having a rare genetic disorder.
Etymology
The term "rare disease assumption" is derived from the English words "rare" (meaning not common or frequent), "disease" (meaning a disorder of structure or function in a human), and "assumption" (meaning a thing that is accepted as true or as certain to happen, without proof).
Related Terms
- Genetic disorder: A disease caused by an abnormality in an individual's DNA. It can be inherited through the genes or result from a mutation.
- Epidemiology: The study and analysis of the distribution, patterns and determinants of health and disease conditions in defined populations.
- Medical genetics: The branch of medicine that involves the diagnosis and management of hereditary disorders.
- Genetic counseling: The process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.
- Genetic testing: A type of medical test that identifies changes in chromosomes, genes, or proteins to predict or diagnose a genetic disorder.
External links
- Medical encyclopedia article on Rare disease assumption
- Wikipedia's article - Rare disease assumption
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski