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Items: 16

1.

DNA Fragmentation

Splitting the DNA into shorter pieces by endonucleolytic DNA CLEAVAGE at multiple sites. It includes the internucleosomal DNA fragmentation, which along with chromatin condensation, are considered to be the hallmarks of APOPTOSIS. [from MeSH]

MedGen UID:
138244
Concept ID:
C0376669
Molecular Function
2.

Carcinoma

A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). [from HPO]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
3.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
4.

ACC

MedGen UID:
893229
Concept ID:
CN238706
Finding
5.

Epithelioma, malignant

MedGen UID:
639977
Concept ID:
C0553707
Neoplastic Process
6.

Mobility

Ability to move purposefully in own environment independently with or without assistive device [from NOC]

MedGen UID:
603859
Concept ID:
C0425245
Finding
7.

Fragmentation

MedGen UID:
568358
Concept ID:
C0332472
Anatomical Abnormality
8.

Corpus callosum agenesis

The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis. [from OMIM]

MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality; Finding
9.

Aplasia cutis congenita

Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported. Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (243800) and Adams-Oliver syndrome (AOS; 100300). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973). Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC. [from OMIM]

MedGen UID:
79390
Concept ID:
C0282160
Congenital Abnormality; Disease or Syndrome
10.

Adenoid cystic carcinoma

Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed) [from MeSH]

MedGen UID:
41382
Concept ID:
C0010606
Neoplastic Process
11.

Malignant epithelial tumor of salivary glands

MedGen UID:
799643
Concept ID:
CN202591
Disease or Syndrome
12.

Fragmentation of salivary gland

MedGen UID:
610589
Concept ID:
C0433996
Anatomical Abnormality
13.

Malignant tumor of adenoid

MedGen UID:
577056
Concept ID:
C0345653
Neoplastic Process
14.

Disorder of tonsil AND/OR adenoid

MedGen UID:
544009
Concept ID:
C0272379
Disease or Syndrome
15.

Salivary Gland Adenoid Cystic Carcinoma

An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver. [from NCI]

MedGen UID:
79034
Concept ID:
C0279751
Neoplastic Process
16.

Oral Cavity Adenoid Cystic Carcinoma

An adenoid cystic carcinoma arising from the minor salivary glands in the oral cavity. [from NCI]

MedGen UID:
76093
Concept ID:
C0280311
Neoplastic Process
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