From HPO
Gastric varix- MedGen UID:
- 8965
- •Concept ID:
- C0017145
- •
- Disease or Syndrome
Extreme dilation of the submucusoal veins in the stomach.
Cirrhosis of liver- MedGen UID:
- 7368
- •Concept ID:
- C0023890
- •
- Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Hepatocellular carcinoma- MedGen UID:
- 389187
- •Concept ID:
- C2239176
- •
- Neoplastic Process
Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).
Bronchiectasis- MedGen UID:
- 14234
- •Concept ID:
- C0006267
- •
- Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Chronic bronchitis- MedGen UID:
- 3084
- •Concept ID:
- C0008677
- •
- Disease or Syndrome
Chronic inflammation of the bronchi.
Cough- MedGen UID:
- 41325
- •Concept ID:
- C0010200
- •
- Sign or Symptom
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Dyspnea- MedGen UID:
- 3938
- •Concept ID:
- C0013404
- •
- Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Hemoptysis- MedGen UID:
- 5502
- •Concept ID:
- C0019079
- •
- Sign or Symptom
Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Chronic obstructive pulmonary disease- MedGen UID:
- 9818
- •Concept ID:
- C0024117
- •
- Disease or Syndrome
Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).
Wheezing- MedGen UID:
- 21917
- •Concept ID:
- C0043144
- •
- Sign or Symptom
A high-pitched whistling sound associated with labored breathing.
Panacinar emphysema- MedGen UID:
- 78106
- •Concept ID:
- C0264393
- •
- Disease or Syndrome
Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.
Increased sputum production- MedGen UID:
- 1781289
- •Concept ID:
- C5539771
- •
- Finding
An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway).
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 338525
- •Concept ID:
- C1848701
- •
- Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Reduced circulating alpha-1-antitrypsin concentration- MedGen UID:
- 1670949
- •Concept ID:
- C4732808
- •
- Finding
A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the respiratory system