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Items: 18

1.

Decreased antibody level in blood

Decreased concentration of the gamma fraction of serum globulin [from SNOMEDCT_US]

MedGen UID:
88568
Concept ID:
C0086438
Disease or Syndrome
2.

Agammaglobulinemia

Absence of the gamma fraction of serum globulin [from SNOMEDCT_US]

MedGen UID:
168
Concept ID:
C0001768
Disease or Syndrome
3.

Severe B lymphocytopenia

A severe form of B lymphocytopenia in which the count of B cells is very low or absent. [from HPO]

MedGen UID:
892948
Concept ID:
C4020824
Laboratory or Test Result
4.

Does not play

MedGen UID:
661018
Concept ID:
C0577490
Finding
5.

Agammaglobulinemia

Absence or extremely low level of generally all classes of gamma-globulin in the blood. [from HPO]

MedGen UID:
505639
Concept ID:
CN003927
Finding
6.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
7.

X-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin substitution therapy. Severe, difficult-to-treat enteroviral infections (often manifest as dermatomyositis or chronic meningoencephalitis) can be prevented by this treatment. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum IgG to be achieved, and more liberal use of antibiotics. [from GeneReviews]

MedGen UID:
65123
Concept ID:
C0221026
Disease or Syndrome
8.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
9.

Lymphatism

MedGen UID:
141817
Concept ID:
C0524631
Disease or Syndrome
10.

Abnormality of the lymphatic system

The lymphatic system is a network of tissues and organs. It is made up of. -Lymph - a fluid that contains white blood cells that defend against germs. -Lymph vessels - vessels that carry lymph throughout your body. They are different from blood vessels. -Lymph nodes - glands found throughout the lymph vessels. Along with your spleen, these nodes are where white blood cells fight infection. Your bone marrow and thymus produce the cells in lymph. They are part of the system, too. The lymphatic system clears away infection and keeps your body fluids in balance. If it's not working properly, fluid builds in your tissues and causes swelling, called lymphedema. Other lymphatic system problems can include infections, blockage, and cancer.  [from MedlinePlus]

MedGen UID:
9829
Concept ID:
C0024228
Disease or Syndrome
11.

Immunodeficiency

A deficiency of immune response or a disorder characterized by deficient immune response. [from NCI_FDA]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
12.

Hemic and Lymphatic Diseases

Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. [from MeSH]

MedGen UID:
6780
Concept ID:
C0018981
Disease or Syndrome
13.

Lymphoproliferative disorder

A disease in which cells of the lymphatic system grow excessively. Lymphoproliferative disorders are often treated like cancer. [from NCI_NCI-GLOSS]

MedGen UID:
6162
Concept ID:
C0024314
Neoplastic Process
14.

Disorder of immune system

Your immune system is a complex network of cells, tissues, and organs that work together to defend against germs. It helps your body to recognize these foreign invaders. Then its job is to keep them out, or if it can't, to find and destroy them. If your immune system cannot do its job, the results can be serious. Disorders of the immune system include. -Allergy and asthma - immune responses to substances that are usually not harmful. -Immune deficiency diseases - disorders in which the immune system is missing one or more of its parts. -Autoimmune diseases - diseases causing your immune system to attack your own body's cells and tissues by mistake. NIH: National Institute of Allergy and Infectious Diseases.  [from MedlinePlus]

MedGen UID:
5759
Concept ID:
C0021053
Disease or Syndrome
15.

Hematologic disease

Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet. Types of blood disorders include. -Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots. -Anemia, which happens when your blood does not carry enough oxygen to the rest of your body. -Cancers of the blood, such as leukemia and myeloma. -Eosinophilic disorders, which are problems with one type of white blood cell.  [from MedlinePlus]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
16.

Blood Protein Disorders

Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS. [from MeSH]

MedGen UID:
612
Concept ID:
C0005830
Disease or Syndrome
17.

Ph Unknown/BCR Unknown

Philadelphia chromosome abnormality; t(9;22)(q34;q11) was not tested; therefore it is not known whether it is present or not; bcr/abl gene rearrangement was not tested; therefore it is not known whether it is present or not. [from NCI]

MedGen UID:
378652
Concept ID:
C2347499
Finding
18.

Ph Unknown/BCR+

Philadelphia chromosome abnormality; (9;22)(q34;q11) was not tested; therefore it is not known if it was present or not; bcr/abl gene rearrangement was found. [from NCI]

MedGen UID:
378651
Concept ID:
C2347498
Finding
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