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Related Concept Videos

Introduction to Language of Pathophysiology l01:25

Introduction to Language of Pathophysiology l

Pathophysiology investigates how biological mechanisms—typically starting at the cellular level—disrupt normal bodily functions. It bridges anatomy and physiology to explain the progression of disease. With this foundation, it is important to understand the following key terms used to describe disease processes: Diagnosis:The process of identifying a disease using clinical evaluation, including signs (objective evidence like rashes), symptoms (subjective experiences like pain), laboratory test...
Introduction to Language of Pathophysiology ll01:17

Introduction to Language of Pathophysiology ll

This lesson explores key terms that describe how diseases progress, their outcomes, and their distribution in populations.Diagnostic tests identify diseases and monitor treatment. These include blood and urine tests, biopsies, imaging (X-ray, MRI), and detection of infectious agents.Remission is a reduction or disappearance of symptoms.Exacerbation refers to the worsening of symptoms, such as increased wheezing during an asthma attack.A precipitating factor triggers an acute episode, while a...
Methods of Documentation VI: Case Management Model01:15

Methods of Documentation VI: Case Management Model

The case management model is a multidisciplinary approach that involves healthcare professionals from diverse disciplines, such as physicians, nurses, therapists, social workers, and pharmacists, working collaboratively to address the various needs of patients. Each healthcare professional brings unique expertise and perspectives, contributing to a more comprehensive understanding of the patient's condition and tailoring treatment plans accordingly.
For example, a patient with a chronic illness...
Formulating and Validating Nursing Diagnosis I01:26

Formulating and Validating Nursing Diagnosis I

A nursing diagnosis is written when the nurse recognizes a cluster of essential patient data indicating health problems treated with independent nursing interventions. The standardized terminologies of a nursing diagnosis help nurses identify and treat patients' problems. Every electronic health record that uses nursing diagnosis must employ standard diagnostic terminology. Developing an efficient, individualized care plan begins with accurate nursing diagnoses.
There are thirteen domains for...
Classification of Illness01:17

Classification of Illness

The meaning of illness is individualized to each person who experiences an alteration in health. In contrast, disease is a medical term indicating a pathological change in the structure and function of the body or mind. It is a condition that has specific symptoms and boundaries.
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe and...
Formulating and Validating Nursing Diagnosis II01:25

Formulating and Validating Nursing Diagnosis II

Nursing diagnoses represent a problem validated by major defining characteristics. There are four categories of nursing diagnoses: problem-focused, risk, health promotion or wellness, and syndrome. The anatomy of a nursing diagnosis includes three components: problem statement or diagnostic label, defining characteristics, and related factors.
Risk nursing diagnoses represent clinical judgments of an individual, family, or community more vulnerable to developing the health problem than others...

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Updated: Jun 16, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

[Rare diseases: a concept for a structured diagnostic pathway].

Laura Schmidt-Pennington1

  • 1Klinik für Endokrinologie, Stoffwechsel- und Ernährungsmedizin, Campus Charité Mitte, Charité - Universitätsmedizin Berlin, Charitéplatz 1, Berlin, Deutschland. laura.schmidt-pennington@charite.de.

Innere Medizin (Heidelberg, Germany)
|June 15, 2026
PubMed
Summary
This summary is machine-generated.

Delayed diagnosis for rare diseases (RD) impacts prognosis and quality of life. A structured pathway can empower primary caretakers, shorten diagnosis times, and improve care coordination for rare disease patients.

Area of Science:

  • Medical Genetics
  • Public Health
  • Healthcare Management
Keywords:
Centres for rare diseasesDelayed diagnosis/rare diseasesMethod of diagnostik reasoning/rare diseasesPrimary careSimultaneous biopsychosocial diagnostics

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