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1.

Pulmonary fibrosis

Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This tissue gets thick and stiff. That makes it hard for you to catch your breath, and your blood may not get enough oxygen. Causes of pulmonary fibrosis include environmental pollutants, some medicines, some connective tissue diseases, and interstitial lung disease. Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. In most cases, the cause cannot be found. This is called idiopathic pulmonary fibrosis. Symptoms include. -Shortness of breath. -A dry, hacking cough that doesn't get better. -Fatigue. -Weight loss for no known reason. -Aching muscles and joints. -Clubbing, which is the widening and rounding of the tips of the fingers or toes. Your doctor may use your medical history, imaging tests, a biopsy, and lung function tests to diagnose pulmonary fibrosis. There is no cure. Treatments can help with symptoms and improve your quality of life. They include medicines, oxygen therapy, pulmonary rehabilitation, or a lung transplant. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
11028
Concept ID:
C0034069
Disease or Syndrome
2.

Fibrosis

The formation of fibrous tissue; fibroid or fibrous degeneration. [from NCI]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
3.

Undetermined finding

A term referring to the lack of definitive criteria for classification of a finding. [from NCI_CDISC]

MedGen UID:
897544
Concept ID:
C4082977
Finding
4.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
5.

Progressive

Advancing in extent or severity. [from NCI]

MedGen UID:
64400
Concept ID:
C0205329
Functional Concept
6.

Ataxia

A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. [from HPO]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
7.

Ataxia-telangiectasia syndrome

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene. [from OMIM]

MedGen UID:
439
Concept ID:
C0004135
Congenital Abnormality; Disease or Syndrome
8.

Abnormality of the lung

Any structural anomaly of the lung. [from HPO]

MedGen UID:
892303
Concept ID:
C4021760
Anatomical Abnormality
9.

Furriers lung

MedGen UID:
538594
Concept ID:
C0264476
Disease or Syndrome
10.

Coffee-workers lung

MedGen UID:
538589
Concept ID:
C0264468
Disease or Syndrome
11.

Cheese-washers lung

MedGen UID:
507549
Concept ID:
C0007969
Disease or Syndrome
12.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
13.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
14.

Interstitial pulmonary abnormality

Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation and scarring make it hard to get enough oxygen. The scarring is called pulmonary fibrosis. Breathing in dust or other particles in the air is responsible for some types of interstitial lung diseases. Specific types include. -Black lung disease among coal miners, from inhaling coal dust. -Farmer's lung, from inhaling farm dust. -Asbestosis, from inhaling asbestos fibers. -Siderosis, from inhaling iron from mines or welding fumes. -Silicosis, from inhaling silica dust. Other causes include autoimmune diseases or occupational exposures to molds, gases, or fumes. Some types of interstitial lung disease have no known cause. Treatment depends on the type of exposure and the stage of the disease. It may involve medicines, oxygen therapy, or a lung transplant in severe cases.  [from MedlinePlus]

MedGen UID:
60064
Concept ID:
C0206062
Disease or Syndrome
15.

Telangiectasia

a visibly dilated blood vessel on the skin [from CHV]

MedGen UID:
21088
Concept ID:
C0039446
Disease or Syndrome
16.

Disorder of lung

When you breathe, your lungs take in oxygen from the air and deliver it to the bloodstream. The cells in your body need oxygen to work and grow. During a normal day, you breathe nearly 25,000 times. People with lung disease have difficulty breathing. Millions of people in the U.S. have lung disease. If all types of lung disease are lumped together, it is the number three killer in the United States. The term lung disease refers to many disorders affecting the lungs, such as asthma, COPD, infections like influenza, pneumonia and tuberculosis, lung cancer, and many other breathing problems. Some lung diseases can lead to respiratory failure. Dept. of Health and Human Services Office on Women's Health.  [from MedlinePlus]

MedGen UID:
7399
Concept ID:
C0024115
Disease or Syndrome
17.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). [from HPO]

MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
18.

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
19.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
20.

Course of illness

Stages or progression of physical or mental disorders. Compare PROGNOSIS. [from PSY]

MedGen UID:
116631
Concept ID:
C0242656
Pathologic Function
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