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Items: 18

1.

Tartrate

a kind of chemical substance [from CHV]

MedGen UID:
57061
Concept ID:
C0144544
Organic Chemical; Pharmacologic Substance
2.

Giant cell tumor

A benign, intermediate, or malignant neoplasm characterized by the presence of neoplastic giant cells. [from NCI]

MedGen UID:
6598
Concept ID:
C0017525
Neoplastic Process
3.

Microphthalmia

A developmental anomaly characterized by abnormal smallness of one or both eyes. [from HPO]

MedGen UID:
504501
Concept ID:
CN000533
Finding
4.

HTLV-1-associated myelopathy-tropical spastic paraparesis

A progressive chronic inflammatory disease of the central nervous system with the aetiologic agent Human T cell lymphotropic virus type I (HTLV-I), the disease is characterised by unremitting myelopathic symptoms such as spastic paraparesis, bowel and/or bladder dysfunction and sensory changes of the lower limbs. [from SNOMEDCT_US]

MedGen UID:
18298
Concept ID:
C0030481
Disease or Syndrome
5.

Microphthalmos

Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated. [from GTR]

MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
6.

Albinism, ocular, with sensorineural deafness

Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain.Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor.The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss. [from GTR]

MedGen UID:
400230
Concept ID:
C1863198
Disease or Syndrome
7.

Staining

MedGen UID:
352872
Concept ID:
C1704680
Finding
8.

Connective and Soft Tissue Neoplasm

A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. [from NCI]

MedGen UID:
60224
Concept ID:
C0206765
Neoplastic Process
9.

Neoplasm of connective tissues

Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. [from MeSH]

MedGen UID:
45035
Concept ID:
C0027656
Neoplastic Process
10.

Neoplastic Processes

The pathological mechanisms and forms taken by tissue during degeneration into a neoplasm and its subsequent activity. [from MeSH]

MedGen UID:
14325
Concept ID:
C0027671
Neoplastic Process
11.

Disorder of bone

Diseases of BONES. [from MeSH]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
12.

Soft Tissue Neoplasm

A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. [from NCI]

MedGen UID:
11495
Concept ID:
C0037579
Neoplastic Process
13.

Neoplasm Recurrence, Local

The local recurrence of a neoplasm following treatment. It arises from microscopic cells of the original neoplasm that have escaped therapeutic intervention and later become clinically visible at the original site. [from MeSH]

MedGen UID:
10211
Concept ID:
C0027643
Neoplastic Process
14.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
15.

Bone Neoplasm

A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. [from NCI]

MedGen UID:
2701
Concept ID:
C0005967
Neoplastic Process
16.

Giant cell tumor of synovium and/or tendon sheath

MedGen UID:
825468
Concept ID:
C3839623
Neoplastic Process
17.

Local recurrence of malignant tumor of bone

MedGen UID:
705350
Concept ID:
C1282484
Neoplastic Process
18.

Foreign body in bone

MedGen UID:
646251
Concept ID:
C0561857
Disease or Syndrome
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