Description: Abnormal physical or functional conditions present at birth, often due to genetic or developmental factors.
Examples:
- Cleft lip and palate
- Down syndrome (Trisomy 21)
- Congenital heart defects
2. T020: Acquired Abnormality
Description: Abnormal physical or functional conditions that develop after birth, typically as a result of environmental factors, injury, or disease.
Examples:
- Type 2 diabetes mellitus
- Chronic obstructive pulmonary disease (COPD)
- Traumatic brain injury
3. T033: Finding
Description: Observable or measurable manifestations of a condition or disease, including symptoms, signs, and laboratory results.
Examples:
- Fever (symptom)
- Elevated blood pressure (sign)
- High blood glucose level (laboratory result)
4. T034: Laboratory or Test Result
Description: Specific findings obtained through laboratory tests or diagnostic procedures.
Examples:
- White blood cell count
- Serum cholesterol level
- Hemoglobin A1c level
5. T041: Mental Process
Description: Cognitive or psychological activities of the mind, such as perception, reasoning, or memory.
Examples:
- Decision-making
- Problem-solving
- Learning
6. T046: Pathologic Function
Description: Abnormal physiological or biological functions within the body, often associated with disease processes.
Examples:
- Impaired glucose metabolism
- Altered blood flow
- Dysregulated immune response
7. T047: Disease or Syndrome
Description: Pathological conditions characterized by a set of signs, symptoms, or clinical manifestations.
Examples:
- Hypertension
- Diabetes mellitus
- Asthma
8. T048: Mental or Behavioral Dysfunction
Description: Abnormalities or impairments in mental or behavioral functions, such as mood disorders, anxiety, or cognitive deficits.
Examples:
- Major depressive disorder
- Generalized anxiety disorder
- Attention-deficit/hyperactivity disorder (ADHD)
9. T049: Cell or Molecular Dysfunction
Description: Abnormalities or dysfunctions at the cellular or molecular level, including genetic mutations, metabolic disorders, or molecular signaling defects.
Examples:
- Mutation in the BRCA1 gene (associated with breast cancer)
- Deficiency of insulin production in type 1 diabetes mellitus
- Dysregulation of neurotransmitter release in Parkinson's disease
10. T050: Experimental Model of Disease
Description: Experimental models of disease created in laboratory settings to simulate or study specific pathological conditions in biological systems.
Examples:
- Mouse model of Alzheimer's disease
- Zebrafish model of heart failure
- Cell culture model of cancer metastasis
11. T059: Laboratory Procedure
Description: Techniques or methods used in laboratory settings to analyze or study biological specimens, such as blood tests or tissue analyses.
Examples:
- Polymerase chain reaction (PCR)
- Enzyme-linked immunosorbent assay (ELISA)
- Western blotting
12. T060: Diagnostic Procedure
Description: Medical tests or examinations used to identify or confirm the presence of a disease or condition in a patient.
Examples:
- X-ray imaging
- Magnetic resonance imaging (MRI)
- Electrocardiogram (ECG)
13. T063: Molecular Biology Research Technique
Description: Experimental techniques or methods used in molecular biology research, such as polymerase chain reaction (PCR) or gene sequencing.
Examples:
- CRISPR-Cas9 gene editing
- RNA sequencing (RNA-seq)
- Chromatin immunoprecipitation (ChIP)
14. T073: Manufactured Object
Description: Tangible items produced or created through human manufacturing processes, such as medical devices or laboratory equipment.
Examples:
- Stethoscope
- Microscope
- Artificial joint prosthesis
15. T170: Intellectual Product
Description: Abstract or intangible creations of the human intellect, including scientific theories, algorithms, or research findings.
Examples:
- Newton's laws of motion
- Theory of relativity
- Computational model of protein folding
16. T184: Sign or Symptom
Description: Subjective or objective manifestations of a disease or condition experienced or observed by the patient or healthcare provider.
Examples:
- Headache
- Rash
- Cough
17. T190: Anatomical Abnormality
Description: Structural deviations or irregularities in the body's anatomy, including congenital malformations or acquired injuries.
Examples:
- Spina bifida
- Fractured femur
- Aortic aneurysm
18. T191: Neoplastic Process
Description: Abnormal growth or proliferation of cells leading to the formation of tumors or cancerous lesions.
Examples:
- Breast carcinoma
- Lung adenocarcinoma
- Melanoma
19. T201: Clinical Attribute
Description: Characteristics or properties associated with a disease or medical condition, including severity, duration, or response to treatment.
Examples:
- Severity of pain (mild, moderate, severe)
- Duration of symptoms (acute, chronic)
- Response to medication (improved, unchanged, worsened)
