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1.

Sarcoma

A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. [from HPO]

MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
2.

Ewing sarcoma

A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. [from HPO]

MedGen UID:
506718
Concept ID:
CN168774
Finding
3.

Sarcoma

A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. [from HPO]

MedGen UID:
506452
Concept ID:
CN117138
Finding
4.

Ewing sarcoma

Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.Ewing sarcomas most often occur in children and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone or surrounding tissue. Sometimes, there is a lump near the surface of the skin that feels warm and soft to the touch. Often, children have a fever that does not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and affected individuals may have a broken bone with no obvious cause.It is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow. [from GTR]

MedGen UID:
107816
Concept ID:
C0553580
Neoplastic Process
5.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from GTR]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
6.

Improved

Condition changed and/or recovered [from CCC]

MedGen UID:
512204
Concept ID:
C0184511
Finding
7.

Uncertain

A measure of the inherent variability of repeated observation measurements of a quantity including quantities evaluated by statistical methods and by other means. [from NCI]

MedGen UID:
43443
Concept ID:
C0087130
Finding
8.

Carcinogenesis

A pathological process in which normal cells are transformed into malignant cancer cells within a primary tumor. [from NCI]

MedGen UID:
154544
Concept ID:
C0596263
Neoplastic Process
9.

Neoplasms, Bone Tissue

Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones. [from MeSH]

MedGen UID:
104905
Concept ID:
C0206639
Neoplastic Process
10.

Epithelioid Sarcoma

An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma). [from NCI]

MedGen UID:
104753
Concept ID:
C0205944
Neoplastic Process
11.

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
12.

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
13.

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
14.

Disorder of bone

Diseases of BONES. [from MeSH]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
15.

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
16.

Osteosarcoma

A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. [from HPO]

MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
17.

Neoplasms by Histologic Type

A collective term for the various histological types of NEOPLASMS. It is more likely to be used by searchers than by indexers and catalogers. [from MeSH]

MedGen UID:
10295
Concept ID:
C0027652
Neoplastic Process
18.

Disorder of musculoskeletal system

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

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
19.

Tumorigenesis

A pathologic process that involves the transformation of normal cells to a neoplastic state and resulting in polyclonal or monoclonal neoplastic cell proliferation. [from NCI]

MedGen UID:
3302
Concept ID:
C0007621
Neoplastic Process
20.

Bone neoplasm

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

MedGen UID:
2701
Concept ID:
C0005967
Neoplastic Process
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