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Items: 8

1.

Pneumonia

Pneumonia is an infection in one or both of the lungs. Many germs, such as bacteria, viruses, and fungi, can cause pneumonia. You can also get pneumonia by inhaling a liquid or chemical. People most at risk are older than 65 or younger than 2 years of age, or already have health problems. Symptoms of pneumonia vary from mild to severe. See your doctor promptly if you. -Have a high fever. -Have shaking chills. -Have a cough with phlegm that doesn't improve or gets worse. -Develop shortness of breath with normal daily activities. -Have chest pain when you breathe or cough. -Feel suddenly worse after a cold or the flu. Your doctor will use your medical history, a physical exam, and lab tests to diagnose pneumonia. Treatment depends on what kind you have. If bacteria are the cause, antibiotics should help. If you have viral pneumonia, your doctor may prescribe an antiviral medicine to treat it. Preventing pneumonia is always better than treating it. Vaccines are available to prevent pneumococcal pneumonia and the flu. Other preventive measures include washing your hands frequently and not smoking. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
2.

Legionellosis

Legionellosis or Legionnaires' disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia. [from ORDO]

MedGen UID:
798968
Concept ID:
CN205282
Disease or Syndrome
3.

Pneumonia

Inflammation of any part of the lung parenchyma. [from HPO]

MedGen UID:
505095
Concept ID:
CN001891
Finding
4.

Aicardi Goutieres syndrome 1

Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical handicap. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with mutation of the AGS-related genes is not yet known. For example, mutation of ADAR has recently been associated with a clinical presentation of acute bilateral striatal necrosis. [from GeneReviews]

MedGen UID:
162912
Concept ID:
C0796126
Disease or Syndrome
5.

Aicardi Goutieres syndrome

Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical handicap. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with mutation of the AGS-related genes is not yet known. For example, mutation of ADAR has recently been associated with a clinical presentation of acute bilateral striatal necrosis. [from GeneReviews]

MedGen UID:
97953
Concept ID:
C0393591
Disease or Syndrome
6.

Antley-Bixler syndrome

MedGen UID:
75561
Concept ID:
C0265307
Congenital Abnormality; Disease or Syndrome
7.

Constricting bands, congenital

MedGen UID:
66322
Concept ID:
C0220724
Congenital Abnormality; Disease or Syndrome
8.

Respiratory tract infection

Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. [from MeSH]

MedGen UID:
11199
Concept ID:
C0035243
Disease or Syndrome
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