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Items: 9

1.

Urinary tract infectious disease

A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. [from NCI]

MedGen UID:
52943
Concept ID:
C0042029
Disease or Syndrome
2.

Pyelonephritis

An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. [from HPO]

MedGen UID:
19590
Concept ID:
C0034186
Disease or Syndrome
3.

Urinary bladder inflammation

Inflammation of the urinary bladder. [from HPO]

MedGen UID:
8227
Concept ID:
C0010692
Disease or Syndrome
4.

Bacterial infectious disease with sepsis

Presence of viable bacteria in the blood. [from HPO]

MedGen UID:
482
Concept ID:
C0004610
Finding
5.

Congenital bile acid synthesis defect

MedGen UID:
1826069
Concept ID:
C5680095
Disease or Syndrome
6.

Pulmonary alveolar proteinosis

Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. [from HPO]

MedGen UID:
1763046
Concept ID:
C5400698
Finding
7.

Autoimmune pulmonary alveolar proteinosis

Pulmonary alveolar proteinosis is a pathologic entity characterized by intraalveolar surfactant accumulation. There are 3 clinically distinct forms: hereditary (usually congenital), secondary, and acquired. The acquired form of pulmonary alveolar proteinosis is the most common form, accounting for approximately 90% of cases. The mean age at diagnosis is 39 years and it is associated with smoking in 72% of cases. The estimated incidence and prevalence are 0.36 and 3.70 cases per million, respectively (Trapnell et al., 2003; Seymour and Presneill, 2002). Secondary pulmonary alveolar proteinosis develops in association with conditions involving functional impairment or reduced numbers of alveolar macrophages. Such conditions include some hematologic cancers, pharmacologic immunosuppression, inhalation of inorganic dust or toxic fumes, and certain infections. Congenital pulmonary alveolar proteinosis is a rare, severe, often fatal disorder of newborns associated with pulmonary surfactant metabolism dysfunction caused by mutations in genes involved in surfactant metabolism (see, e.g., SMDP1, 265120) (Trapnell et al., 2003). See 300770 for information on congenital PAP due to CSF2RA (306250) deficiency. [from OMIM]

MedGen UID:
410079
Concept ID:
C1970472
Disease or Syndrome
8.

Pituitary adenoma predisposition

MedGen UID:
354959
Concept ID:
C1863340
Finding
9.

Recurrent urinary tract infections

Repeated infections of the urinary tract. [from HPO]

MedGen UID:
120466
Concept ID:
C0262655
Disease or Syndrome
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