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Nosologic groups. An overview

N Freire-Maia

    Human Heredity
    |January 1, 1977
    PubMed
    Summary
    This summary is machine-generated.

    Nosologic groups, though artificial, aid research and diagnosis. Future efforts should focus on identifying

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    Area of Science:

    • Medical Science
    • Genetics
    • Developmental Biology

    Background:

    • The concept of nosologic groups is fundamental in medical classification.
    • Current nosologic groupings may be artificial but serve practical purposes.

    Purpose of the Study:

    • To analyze the concept of nosologic groups.
    • To propose a direction for refining nosologic classifications.

    Main Methods:

    • General analysis of the concept of nosologic groups.
    • Conceptual analysis of related terms: syndrome, anomalad, association, combination, dysplasia, phenotypic community, and family of diseases.

    Main Results:

    • Artificial nosologic groups are valuable for research, education, and differential diagnosis.
    • The progression towards 'phenotypic communities' is essential for more accurate classification.

    Conclusions:

    • Nosologic groupings should evolve towards identifying 'phenotypic communities'.
    • These communities are characterized by syndromes with significant dysmorphogenetically intimate phenotypic overlap.