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Results: 1 to 20 of 24

1.

Severe combined immunodeficiency disease

group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels; it is inherited as an X-linked or autosomal recessive defect; about half of the patients with autosomal recessive SCID are deficient in the enzyme adenosine deaminase. [from CRISP]

MedGen UID:
88328
Concept ID:
C0085110
Disease or Syndrome
2.

Newborn

MedGen UID:
745693
Concept ID:
C2239178
Finding
3.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
4.

Combined immunodeficiency

MedGen UID:
505803
Concept ID:
CN004782
Finding
5.

Severe combined immunodeficiency

Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems. [from HPO]

MedGen UID:
505637
Concept ID:
CN003925
Finding
6.

Immunodeficiency

MedGen UID:
505335
Concept ID:
CN002471
Finding
7.

Immunodeficiency due to defect in cd3-zeta

MedGen UID:
346666
Concept ID:
C1857798
Disease or Syndrome
8.

Combined immunodeficiency

A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern. [from NCI]

MedGen UID:
141668
Concept ID:
C0494261
Disease or Syndrome
9.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
10.

Immunodeficiency disorder

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. [from NCI]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
11.

Complication Aspects

Used with diseases to indicate conditions that co-exist or follow, i.e., co-existing diseases, complications, or sequelae. [from MeSH]

MedGen UID:
223946
Concept ID:
C1171258
Pathologic Function
12.

Primary immunodeficiency

MedGen UID:
833465
Concept ID:
CN197484
Finding
13.

Infections

MedGen UID:
833099
Concept ID:
CN228891
Finding
14.

Infancy

From 4 weeks to 23 months of life. [from ORDO]

MedGen UID:
832100
Concept ID:
CN227393
Disease or Syndrome
15.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
16.

Onset

The start, beginning, or early stages. [from NCI]

MedGen UID:
87142
Concept ID:
C0332162
17.

DNA Repair-Deficiency Disorders

Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE. [from MeSH]

MedGen UID:
327583
Concept ID:
C1563696
Disease or Syndrome
18.

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
19.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
20.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Disease or Syndrome

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