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Items: 15

1.

Celiac disease

Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, weight loss, abdominal pain, anorexia, lactose intolerance, abdominal distention, and irritability) and/or highly variable non-gastrointestinal findings (iron deficiency anemia, dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms. [from GTR]

MedGen UID:
3291
Concept ID:
C0007570
Disease or Syndrome
2.

Celiac disease

Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases. [from HPO]

MedGen UID:
505292
Concept ID:
CN002370
Finding
3.

Autoimmune enteropathy

A rare autoimmune disorder that usually affects children. It is associated with the presence of circulating autoantibodies that act against the gut epithelial cells. It is characterized by diarrhea and weight loss due to malabsorption. [from NCI]

MedGen UID:
83322
Concept ID:
C0341305
Disease or Syndrome
4.

Severe immune-mediated enteropathy

Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss. [from ORDO]

MedGen UID:
833137
Concept ID:
CN229224
Finding
5.

Autoimmune reaction

A specific humoral or cell-mediated immune response against autologous (self) antigens. An autoimmune process may produce or be caused by autoimmune disease and may be developmentally complex, not necessarily pathological, and possibly pervasive. [from NCI]

MedGen UID:
105217
Concept ID:
C0443146
Pathologic Function
6.

Mediator

An agent that acts as a link between parties, objects, or actions. [from NCI]

MedGen UID:
93010
Concept ID:
C0127400
Organic Chemical; Pharmacologic Substance
7.

Abnormality of the intestine

A non-neoplastic or neoplastic disorder that affects the small or large intestine. [from NCI]

MedGen UID:
7130
Concept ID:
C0021831
Disease or Syndrome
8.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
9.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
10.

Malabsorption syndrome

A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. [from NCI]

MedGen UID:
44256
Concept ID:
C0024523
Disease or Syndrome
11.

Gastrointestinal disease

A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas. [from NCI]

MedGen UID:
8970
Concept ID:
C0017178
Disease or Syndrome
12.

Inflammation

A localized protective response resulting from injury or destruction of tissues. Inflammation serves to destroy, dilute, or wall off both the injurious agent and the injured tissue. In the acute phase, inflammation is characterized by the signs of pain, heat, redness, swelling, and loss of function. Histologically, inflammation involves a complex series of events, including dilatation of arterioles, capillaries, and venules, with increased permeability and blood flow; exudation of fluids, including plasma proteins; and leukocyte migration into the site of inflammation. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
13.

Lymphoma confined to mucosa AND/OR submucosa

MedGen UID:
723975
Concept ID:
C1302399
Finding
14.

Drug-induced malabsorption

MedGen UID:
540855
Concept ID:
C0267648
Disease or Syndrome
15.

Celiac disease 4

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750. [from GTR]

MedGen UID:
346679
Concept ID:
C1857847
Finding
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