From HPO
Hypercalciuria- MedGen UID:
- 43775
- •Concept ID:
- C0020438
- •
- Finding
Abnormally high level of calcium in the urine.
Male infertility- MedGen UID:
- 5796
- •Concept ID:
- C0021364
- •
- Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Clubbing of fingers- MedGen UID:
- 3129
- •Concept ID:
- C0009080
- •
- Finding
Terminal broadening of the fingers (distal phalanges of the fingers).
Cor pulmonale- MedGen UID:
- 18765
- •Concept ID:
- C0034072
- •
- Disease or Syndrome
Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Hepatosplenomegaly- MedGen UID:
- 9225
- •Concept ID:
- C0019214
- •
- Sign or Symptom
Simultaneous enlargement of the liver and spleen.
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.
Biliary cirrhosis- MedGen UID:
- 44182
- •Concept ID:
- C0023892
- •
- Disease or Syndrome
Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.
Rectal prolapse- MedGen UID:
- 11151
- •Concept ID:
- C0034888
- •
- Disease or Syndrome
Protrusion of the rectal mucous membrane through the anus.
Steatorrhea- MedGen UID:
- 20948
- •Concept ID:
- C0038238
- •
- Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Exocrine pancreatic insufficiency- MedGen UID:
- 75647
- •Concept ID:
- C0267963
- •
- Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Ileus- MedGen UID:
- 219874
- •Concept ID:
- C1258215
- •
- Disease or Syndrome
Acute obstruction of the intestines preventing passage of the contents of the intestines.
Meconium ileus- MedGen UID:
- 473705
- •Concept ID:
- C2939175
- •
- Disease or Syndrome
Meconium ileus refers to intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium (summary by Romi et al., 2012). Meconium ileus is a known clinical manifestation of cystic fibrosis (CF; 219700), and meconium ileus in the absence of CF is a rare phenomenon (summary by Tal et al., 1985).
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.
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.
Recurrent pneumonia- MedGen UID:
- 195802
- •Concept ID:
- C0694550
- •
- Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Chronic lung disease- MedGen UID:
- 196656
- •Concept ID:
- C0746102
- •
- Disease or Syndrome
According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
Reduced forced vital capacity- MedGen UID:
- 337630
- •Concept ID:
- C1846678
- •
- Finding
An abnormal reduction in the amount of air a person can expel following maximal inspiration.
Recurrent bronchopulmonary infections- MedGen UID:
- 488990
- •Concept ID:
- C2169795
- •
- Finding
An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.
Reduced forced expiratory volume in one second- MedGen UID:
- 1687063
- •Concept ID:
- C5139283
- •
- Finding
An abnormal reduction in the amount of air a person can forcefully expel in one second.
Decreased forced expiratory flow 25-75%- MedGen UID:
- 1686759
- •Concept ID:
- C5139292
- •
- Finding
A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.
Hyperpolarized transepithelial nasal potential difference- MedGen UID:
- 1052818
- •Concept ID:
- CN376612
- •
- Finding
Increased (more negative) voltage across the nasal epithelium.
Asthma- MedGen UID:
- 2109
- •Concept ID:
- C0004096
- •
- Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Pancreatitis- MedGen UID:
- 14586
- •Concept ID:
- C0030305
- •
- Disease or Syndrome
The presence of inflammation in the pancreas.
Chronic sinusitis- MedGen UID:
- 101751
- •Concept ID:
- C0149516
- •
- Disease or Syndrome
A chronic form of sinusitis.
Dehydration- MedGen UID:
- 8273
- •Concept ID:
- C0011175
- •
- Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Elevated sweat chloride- MedGen UID:
- 347278
- •Concept ID:
- C1856646
- •
- Finding
An increased concentration of chloride in the sweat.
Nasal polyposis- MedGen UID:
- 6524
- •Concept ID:
- C0027430
- •
- Anatomical Abnormality
Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.
Salty tasting skin- MedGen UID:
- 1052861
- •Concept ID:
- CN378068
- •
- Finding
Skin tastes marked salty without an obvious explanation such as heat or exercise. This finding can be observed in infants with cystic fibrosis.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the respiratory system
- Growth abnormality