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This is a supplement repository to our paper "Population Group 2.0: Bringing the UMLS Semantic Network up to speed"

Authors: N Khatwani, J Geller

Conference: Medical Informatics Europe 2025 "Intelligent health systems – From technology to data and knowledge"

https://mie2025.efmi.org/programme

Paper Link

Khatwani, N., & Geller, J. (2025). Population Group 2.0: Bringing the UMLS Semantic Network up to Speed. Studies in Health Technology and Informatics, 327, 1373–1377. https://doi.org/10.3233/SHTI250627


Population Group 2.0

Abstract

The Unified Medical Language System (UMLS) Metathesaurus is arguably the most comprehensive repository of biomedical terminologies. The UMLS Semantic Network in orders of magnitude is smaller than the Metathesaurus and contains 127 Semantic Types. One of those is “Population Group” – a Semantic Type that encompasses concepts related to various demographics and social groups. However, with the evolution of societal dynamics, the current classifications seem to have become insufficient for distinctively capturing the semantics of the contemporary societal structures. In this paper, we propose a re-evaluation and expansion of the “Population Group” Semantic Type to better accommodate these societal realities. With the introduction of the suggested new Semantic Types, we aim to facilitate more precise healthcare data management, research, and policy making.

Index

UMLS Semantic Network (Current Hierarchy)

Entity
├── Physical Object
│   ├── Organism
│   │   ├── Plant
│   │   │   └── Alga
│   │   ├── Fungus
│   │   ├── Virus
│   │   ├── Rickettsia or Chlamydia
│   │   ├── Bacterium
│   │   ├── Animal
│   │   │   ├── Invertebrate
│   │   │   └── Vertebrate
│   │   │       ├── Amphibian
│   │   │       ├── Bird
│   │   │       ├── Fish
│   │   │       ├── Reptile
│   │   │       └── Mammal
│   │   │           └── Human
│   │   └── Archaeon
│   ├── Anatomical Structure
│   │   ├── Embryonic Structure
│   │   ├── Fully Formed Anatomical Structure
│   │   │   ├── Body Part, Organ, or Organ Component
│   │   │   ├── Tissue
│   │   │   ├── Cell
│   │   │   ├── Cell Component
│   │   │   └── Gene or Genome
│   │   └── Anatomical Abnormality
│   │       ├── Congenital Abnormality
│   │       └── Acquired Abnormality
│   ├── Manufactured Object
│   │   ├── Medical Device
│   │   │   └── Drug Delivery Device
│   │   ├── Research Device
│   │   └── Clinical Drug
│   └── Substance
│       ├── Body Substance
│       ├── Chemical
│       │   ├── Chemical Viewed Structurally
│       │   │   ├── Organic Chemical
│       │   │   │   ├── Nucleic Acid, Nucleoside, or Nucleotide
│       │   │   │   ├── Organophosphorus Compound
│       │   │   │   ├── Amino Acid, Peptide, or Protein
│       │   │   │   ├── Carbohydrate
│       │   │   │   └── Lipid
│       │   │   │       ├── Steroid
│       │   │   │       └── Eicosanoid
│       │   │   ├── Element, Ion, or Isotope
│       │   │   └── Inorganic Chemical
│       │   └── Chemical Viewed Functionally
│       │       ├── Pharmacologic Substance
│       │       │   └── Antibiotic
│       │       ├── Biomedical or Dental Material
│       │       ├── Biologically Active Substance
│       │       │   ├── Neuroreactive Substance or Biogenic Amine
│       │       │   ├── Hormone
│       │       │   ├── Enzyme
│       │       │   ├── Vitamin
│       │       │   ├── Immunologic Factor
│       │       │   └── Receptor
│       │       ├── Indicator, Reagent, or Diagnostic Aid
│       │       └── Hazardous or Poisonous Substance
│       └── Food
├── Conceptual Entity
│   ├── Organism Attribute
│   │   └── Clinical Attribute
│   ├── Finding
│   │   ├── Laboratory or Test Result
│   │   └── Sign or Symptom
│   ├── Idea or Concept
│   │   ├── Temporal Concept
│   │   ├── Qualitative Concept
│   │   ├── Quantitative Concept
│   │   ├── Spatial Concept
│   │   │   ├── Body Location or Region
│   │   │   ├── Body Space or Junction
│   │   │   ├── Geographic Area
│   │   │   └── Molecular Sequence
│   │   │       ├── Nucleotide Sequence
│   │   │       ├── Amino Acid Sequence
│   │   │       └── Carbohydrate Sequence
│   │   └── Functional Concept
│   │       └── Body System
│   ├── Occupation or Discipline
│   │   └── Biomedical Occupation or Discipline
│   ├── Organization
│   │   ├── Health Care Related Organization
│   │   ├── Professional Society
│   │   └── Self-help or Relief Organization
│   ├── Group
│   │   ├── Professional or Occupational Group
│   │   ├── Population Group
│   │   ├── Family Group
│   │   ├── Age Group
│   │   └── Patient or Disabled Group
│   ├── Group Attribute
│   ├── Intellectual Product
│   │   ├── Regulation or Law
│   │   └── Classification
│   └── Language
└── Event
    ├── Activity
    │   ├── Behavior
    │   │   ├── Social Behavior
    │   │   └── Individual Behavior
    │   ├── Daily or Recreational Activity
    │   ├── Occupational Activity
    │   │   ├── Health Care Activity
    │   │   │   ├── Laboratory Procedure
    │   │   │   ├── Diagnostic Procedure
    │   │   │   └── Therapeutic or Preventive Procedure
    │   │   ├── Research Activity
    │   │   │   └── Molecular Biology Research Technique
    │   │   ├── Governmental or Regulatory Activity
    │   │   └── Educational Activity
    │   └── Machine Activity
    └── Phenomenon or Process
        ├── Injury or Poisoning
        ├── Human-caused Phenomenon or Process
        │   └── Environmental Effect of Humans
        └── Natural Phenomenon or Process
            ├── Biologic Function
            │   ├── Physiologic Function
            │   │   ├── Organism Function
            │   │   │   └── Mental Process
            │   │   ├── Organ or Tissue Function
            │   │   ├── Cell Function
            │   │   └── Molecular Function
            │   │       └── Genetic Function
            │   └── Pathologic Function
            │       ├── Disease or Syndrome
            │       │   ├── Mental or Behavioral Dysfunction
            │       │   └── Neoplastic Process
            │       ├── Cell or Molecular Dysfunction
            │       └── Experimental Model of Disease

UMLS Semantic Network (After Population Group 2.0)

Entity
├── Physical Object
│   ...
├── Conceptual Entity
│   ├── ...
│   ├── Group
│   │   ├── Professional or Occupational Group
│   │   ├── Population Group
│   │   │   ├── Disadvantaged Group         ← 🆕 Proposed
│   │   │   ├── Behavioral Patients         ← 🆕 Proposed
│   │   │   ├── Patient Health              ← 🆕 Proposed
│   │   │   ├── Social Group                ← 🆕 Proposed
│   │   │   ├── Racial/Ethnic Group         ← 🆕 Proposed
│   │   │   ├── Gender based Group          ← 🆕 Proposed
│   │   │   └── Refugee Group               ← 🆕 Proposed
│   │   ├── Family Group
│   │   ├── Age Group
│   │   └── Patient or Disabled Group
│   ├── ...

Results

Wordcloud based on keyword occurences in the PubMed Abstracts and MetaData

WordCloud

Proposed Semantic Types

Population Group 2.0

Conclusion

While the UMLS Metathesaurus is updated twice a year, the Semantic Network has not kept pace with evolving societal structures. Our proposal introduces a revision to the Population Group semantic type by adding seven new, more representative subtypes. This update aims to reflect contemporary population distinctions more accurately. Looking ahead, we plan to engage the medical community for feedback and endorsement. We also intend to explore potential updates to the Semantic Network that address scientific progress, not just social change. A form of extension can be our two stage Concept Utility Framework, which can be found at https://github.com/narenkhatwani/concept-utility-case-study

About

This is a supplement repository to our paper "Population Group 2.0: Bringing the UMLS Semantic Network up to speed"

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