rare disease
Uncommon health condition
A rare disease is a medical condition affecting a small percentage of the population—in the United States, fewer than 200,000 people.
Though each rare disease is uncommon, thousands exist, collectively affecting millions.
Many are genetic and appear in childhood.
Her daughter was diagnosed with a rare disease at age three.
Also called orphan disease, reflecting historically limited research funding and pharmaceutical development.
Not yet medically named
- misdiagnosisIncorrect identification of ailment
- delayed diagnosisMedical conclusion reached late
- biomarkersMeasurable disease indicators
- genetic testingAnalysis for inherited disorders
biopsy · specialist referral · medical mystery · differential diagnosis · case studies · phenotyping
Passed through generations
- mutationPermanent DNA alteration
- inheritanceProperty received from ancestors
- congenitalExisting from birth
- syndromeLinked symptoms forming pattern
chromosomes · DNA · genes · genomics · recessive · dominant · carrier · monogenic
Lasting entire existence
- progressiveFavoring reform and innovation
- incurableCannot be healed
- debilitatingCausing severe impairment
- managementOrganizing and directing resources
palliative care · quality of life · flare-ups · remission · fatigue · disability · long-term care · adaptive equipment
Controlled health research experiments
- pathogenesisHow disease develops
- etiologyScience of disease origins
- natural historyStudy of organisms and environments
- precision medicineTreatment based on individual characteristics
genomics · bioinformatics · epidemiology · grants · funding · publications · peer review · biobanks
Supporting medical care rights
- support groupsGatherings for shared struggles
- awareness campaignsOrganized public education efforts
- fundraisingSoliciting money for organizations
- caregiver supportAssistance for those providing care
Pre-approval medical treatment allowance
- off-labelOutside approved indications
- gene therapyMedical DNA modification treatment
- clinical trialsControlled health research experiments
- unmet needRequirement not yet addressed
undiagnosed
Not yet medically named
- misdiagnosisIncorrect identification of ailment
- delayed diagnosisMedical conclusion reached late
- biomarkersMeasurable disease indicators
genetic testing · biopsy · specialist referral · medical mystery · differential diagnosis · case studies · phenotyping
hereditary
Passed through generations
- mutationPermanent DNA alteration
- inheritanceProperty received from ancestors
- congenitalExisting from birth
syndrome · chromosomes · DNA · genes · genomics · recessive · dominant · carrier · monogenic · pedigree
lifelong
Lasting entire existence
- progressiveFavoring reform and innovation
- incurableCannot be healed
- debilitatingCausing severe impairment
management · palliative care · quality of life · flare-ups · remission · fatigue · disability · long-term care · adaptive equipment
clinical trials
Controlled health research experiments
- pathogenesisHow disease develops
- etiologyScience of disease origins
- natural historyStudy of organisms and environments
precision medicine · genomics · bioinformatics · epidemiology · grants · funding · publications · peer review · biobanks
patient advocacy
Supporting medical care rights
- support groupsGatherings for shared struggles
- awareness campaignsOrganized public education efforts
- fundraisingSoliciting money for organizations
compassionate use
Pre-approval medical treatment allowance
- off-labelOutside approved indications
- gene therapyMedical DNA modification treatment
- clinical trialsControlled health research experiments
- Health Awarenessawareness ribbon, awareness month, health campaign, pink ribbon, red ribbon
- medical researchmedical research, clinical trial, drug trial, biomedical research, cancer research
- medical casescase report, trauma case, emergency case, diagnosis, differential diagnosis
- Precision Medicinegenomics, biomarker, biomarkers, genetic testing, pharmacogenomics
rare diseaseendemic disease
Disease always present locally
common cold · influenza · diabetes · hypertension · pandemic
rare, disease, rarely, rarity, diseased, diseases, rarefied, rarer, rarest