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Nosologic Groups
Abstract
A general analysis is made of the concept of nosologic groups. It is concluded that, even when 'artificial',they may prove to be useful research, didactic and differential diagnosis purposes. Nosologic groupings must, however, progress toward the finding of 'phenotypic communities' whose component syndromes share multiple foci of dysmorphogenetically intimate phenotypic overlap. The concepts of syndrome, anomalad, association, combination, dysplasia, phenotypic community and family of diseases are briefly analysed.
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In the citing paper
“Initial classification systems for the EDs predate molecular genetics and were categorized and grouped according to phenotypic features and mode of inheritance.”
From Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. (2019) · cites this paper as Freire-Maia 1977
In the citing paper
“The most widely known such nosology was developed by Dr. Newton Freire-Maia in the 1970s and included conditions with “classical signs” involving hair, teeth, nails, and/or sweat glands.”
From Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. (2019) · cites this paper as Freire-Maia 1977
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Cited by
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Wright, J. T., Fete, M., Schneider, H., Zinser, M., Koster, M. I., Clarke, A. J., Hadj‐Rabia, S., Tadini, G., Pagnan, N., Visinoni, A. F., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61045 · Cited by 185
“The definition for inclusion as an ED does not extend to all derivatives of ectoderm and is most often limited to conditions affecting the skin and mucosa and/or their appendages (Freire-Maia, 1977; Itin, 2013; Pagnan & Visinoni, 2014).”
BackgroundMethodInfluentialMolecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update
Peschel, N., Wright, J. T., Koster, M. I., Clarke, A. J., Tadini, G., Fete, M., Hadj-Rabia, S., Sybert, V. P., Norderyd, J., Maier-Wohlfart, S., et al. (2022) · Genes · doi:10.3390/genes13122327 · Cited by 60
Metadata
- Authors
- Freire-Maia, N.
- Venue
- Human Heredity
- Publisher
- S. Karger AG
- Published
- 1977
- Volume
- 27
- Issue
- 4
- Pages
- 251-256
- ISSN
- 1423-0062
- 0001-5652
- Cited by
- 4
- References
- 0
- Language
- en
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- CoChat. (2026). Citation check: Nosologic Groups. https://app.cochat.ai/papers/10.1159/000152876
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- Freire-Maia, N. (1977). Nosologic Groups. Human Heredity. https://doi.org/10.1159/000152876
