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Items: 1 to 20 of 32

1.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
2.

Possible

Capable of happening or occurring. [from NCI]

MedGen UID:
137646
Concept ID:
C0332149
Finding
3.

Teratoid Rhabdoid Tumor

MedGen UID:
875049
Concept ID:
C4042185
Neoplastic Process
4.

Immature Teratoma

A teratoma composed of immature, fetal-type tissues. [from NCI]

MedGen UID:
90798
Concept ID:
C0334520
Neoplastic Process
5.

Frameshift Mutation

A mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product. [from NCI]

MedGen UID:
86908
Concept ID:
C0079380
Cell or Molecular Dysfunction
6.

Rhabdoid tumor

A rare but highly lethal childhood tumor found almost exclusively in infants. Histopathologically, it resembles RHABDOMYOSARCOMA but the tumor cells are not of myogenic origin. Although it arises primarily in the kidney, it may be found in other parts of the body. The rhabdoid cytomorphology is believed to be the expression of a very primitive malignant cell. (From Holland et al., Cancer Medicine, 3d ed, p2210) [from MeSH]

MedGen UID:
64646
Concept ID:
C0206743
Neoplastic Process
7.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
8.

Embryonal neoplasm

A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 [from NCI]

MedGen UID:
45034
Concept ID:
C0027654
Neoplastic Process
9.

Diagnosis

The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. [from MeSH]

MedGen UID:
8354
Concept ID:
C0011900
Finding
10.

Medulloblastoma

Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). [from GTR]

MedGen UID:
7517
Concept ID:
C0025149
Neoplastic Process
11.

Much

A subjective response indicating that something is or was a large amount. [from NCI]

MedGen UID:
923949
Concept ID:
C4281574
Finding
12.

Atypical teratoid rhabdoid tumor

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children. [from ORDO]

MedGen UID:
798196
Concept ID:
CN207484
Disease or Syndrome
13.

Medulloblastoma

A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. [from HPO]

MedGen UID:
505388
Concept ID:
CN002609
Finding
14.

Malignant rhabdoid tumor, somatic

MedGen UID:
442465
Concept ID:
C2750405
Disease or Syndrome
15.

Clinical Significance

A finding that has treatment or management implications for a patient's condition. [from NCI]

MedGen UID:
417419
Concept ID:
C2826293
Finding
16.

Staining

MedGen UID:
352872
Concept ID:
C1704680
Finding
17.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Neoplastic Process
18.

Atypical Teratoid/Rhabdoid Tumor

An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. It may be associated with loss of chromosome 22. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia. [from NCI]

MedGen UID:
226853
Concept ID:
C1266184
Neoplastic Process
19.

Genetic translation

Protein synthesis is the group of processes that are involved in generation of mature protein molecules. Although protein synthesis may involve translation alone in many cases, in others, it involves also protein folding, integration of prosthetic groups, glycosylation, methylation, phosphorylation, lipidation and any other process that may be involved in maturation of the polypeptide to the biologically active form. [from NCI]

MedGen UID:
108933
Concept ID:
C0597295
Molecular Function
20.

Primitive neuroectodermal tumor

A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059) [from MeSH]

MedGen UID:
64627
Concept ID:
C0206663
Neoplastic Process
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