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Results: 1 to 20 of 81

1.

Fatal Outcome

Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept. [from MeSH]

MedGen UID:
61558
Concept ID:
C0206277
Pathologic Function
2.

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications. In the past, there were more than 10 recognized types of Ehlers-Danlos syndrome. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the arthrochalasia type, the classic type, the dermatosparaxis type, the hypermobility type, the kyphoscoliosis type, and the vascular type. Other forms of the condition may exist, but they have been reported only in single families or are not well characterized. Although all types of Ehlers-Danlos syndrome affect the joints and many also affect the skin, features vary by type. An unusually large range of joint movement (hypermobility) occurs with most forms of Ehlers-Danlos syndrome, particularly the hypermobility type. Infants with hypermobile joints often appear to have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation, chronic pain, and early-onset arthritis. Dislocations involving both hips are a characteristic finding in infants with the arthrochalasia type of Ehlers-Danlos syndrome. Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly elastic (stretchy) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classic form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic shallow "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by skin that sags and wrinkles. Extra (redundant) folds of skin may be present as affected children get older. Some forms of Ehlers-Danlos syndrome, notably the vascular and kyphoscoliosis types, can involve serious and potentially life-threatening complications. Blood vessels can tear (rupture) unpredictably, causing internal bleeding, stroke, and shock. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy. People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing.
[from GHR]

MedGen UID:
41720
Concept ID:
C0013720
Congenital Abnormality
3.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

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
5.

Genu valgum

An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING). [from MeSH]

MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
6.

Kyphosis deformity of spine

Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback. [from MeSH]

MedGen UID:
44042
Concept ID:
C0022821
Disease or Syndrome
7.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
8.

Hernia

Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the ABDOMINAL WALL or the respiratory DIAPHRAGM. Hernias may be internal, external, congenital, or acquired. [from MeSH]

MedGen UID:
6816
Concept ID:
C0019270
Anatomical Abnormality
9.

Muscle tone

MedGen UID:
639857
Concept ID:
C0549465
Finding
10.

Acrogeria

MedGen UID:
536838
Concept ID:
C0238590
Disease or Syndrome
11.

Genu valgum

The legs angle inward, such that the knees are close together and the ankles far apart. [from HPO]

MedGen UID:
505373
Concept ID:
CN002582
Finding
12.

Abnormal facial shape

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
505048
Concept ID:
CN001810
Finding
13.

Bruising susceptibility

An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. [from HPO]

MedGen UID:
504672
Concept ID:
CN000916
Finding
14.

Inguinal hernia

Protrusion of the contents of the abdominal cavity through the inguinal canal. [from HPO]

MedGen UID:
504305
Concept ID:
CN000024
Finding
15.

Error occurred: cannot get document summary

ID:
472125

16.

Novel Mutation

A newly discovered, distinct gene alteration; NOT the same as new or de novo mutation. [from NCI]

MedGen UID:
457664
Concept ID:
C2985438
Cell or Molecular Dysfunction
17.

Bilateral inguinal hernia

MedGen UID:
452356
Concept ID:
C0267672
Disease or Syndrome
18.

Hernia

MedGen UID:
452018
Concept ID:
CN117680
Finding
19.

Aortic dissection

Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. [from HPO]

MedGen UID:
427921
Concept ID:
CN002407
Finding
20.

Pes planus

A foot where the `plantar arch` (FMA:43942) is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. [from HPO]

MedGen UID:
427894
Concept ID:
CN001603
Finding

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