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Results: 1 to 20 of 23

1.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
2.

Proteinuria

abnormal presence of protein in urine [from CHV]

MedGen UID:
10976
Concept ID:
C0033687
Disease or Syndrome
3.

Nephrotic syndrome

a kidney disease characterized by a high protein level in urine [from CHV]

MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
4.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
5.

Steroid-resistant nephrotic syndrome

MedGen UID:
588369
Concept ID:
C0403397
Disease or Syndrome
6.

Nephritic syndrome

MedGen UID:
541440
Concept ID:
C0268732
Disease or Syndrome
7.

Nephrotic syndrome

Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. [from HPO]

MedGen UID:
504341
Concept ID:
CN000100
Finding
8.

Nephrotic syndrome, idiopathic, steroid-resistant

Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). [from OMIM]

MedGen UID:
358380
Concept ID:
C1868672
Disease or Syndrome
9.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
10.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
11.

Extravasation

The leakage of blood, lymph, or other fluid, such as an anticancer drug, from a blood vessel or tube into the tissue around it. It is also used to describe the movement of cells out of a blood vessel into tissue during inflammation or metastasis (the spread of cancer). [from NCI]

MedGen UID:
8749
Concept ID:
C0015376
Pathologic Function
12.

Adhesion

Pathological processes consisting of the union of the opposing surfaces of a wound. [from MeSH]

MedGen UID:
7891
Concept ID:
C0001511
Pathologic Function
13.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
14.

Mass of foot

MedGen UID:
745643
Concept ID:
C2174297
Finding
15.

Nephrotic syndrome associated with another disorder

MedGen UID:
738815
Concept ID:
C1663566
Disease or Syndrome
16.

Urine cytology normal

MedGen UID:
669625
Concept ID:
C0587954
Finding
17.

Mass of urinary system structure

MedGen UID:
661091
Concept ID:
C0577568
Sign or Symptom
18.

Urine blood test not done

MedGen UID:
600509
Concept ID:
C0420746
Finding
19.

Adhesion of diaphragm

MedGen UID:
538677
Concept ID:
C0264585
Anatomical Abnormality
20.

Disorder of diaphragm

MedGen UID:
508886
Concept ID:
C0152097
Disease or Syndrome

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