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1.

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
2.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
3.

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
4.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
5.

ACC

MedGen UID:
893229
Concept ID:
CN238706
Finding
6.

Salivary Duct Carcinoma

An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites. [from NCI]

MedGen UID:
220969
Concept ID:
C1301194
Neoplastic Process
7.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
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). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). 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
10.

Heterogeneous

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) [from MeSH]

MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
11.

Epithelial Neoplasm

A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. [from NCI]

MedGen UID:
277963
Concept ID:
C1368683
Neoplastic Process
12.

Allelic Imbalance

A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified. [from MeSH]

MedGen UID:
168420
Concept ID:
C0887935
Cell or Molecular Dysfunction
13.

Carcinomatosis

Carcinoma that has spread diffusely to an anatomic site or throughout the body. [from NCI]

MedGen UID:
104704
Concept ID:
C0205699
Neoplastic Process
14.

Cribriform Carcinoma

A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma. [from NCI]

MedGen UID:
104694
Concept ID:
C0205643
Neoplastic Process
15.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
16.

Mutagenesis Process

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
17.

Tubular Adenocarcinoma

An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma. [from NCI]

MedGen UID:
61428
Concept ID:
C0205645
Neoplastic Process
18.

Oxyphilic Adenocarcinoma

An adenocarcinoma characterized by the presence of large malignant epithelial cells with abundant granular eosinophilic cytoplasm (oncocytes). Representative examples include thyroid gland oncocytic follicular carcinoma, oncocytic breast carcinoma, and salivary gland oncocytic carcinoma. [from NCI]

MedGen UID:
61427
Concept ID:
C0205642
Neoplastic Process
19.

Undifferentiated Carcinoma

A malignant epithelial neoplasm exhibiting poor differentiation (anaplasia). [from NCI_CDISC]

MedGen UID:
60010
Concept ID:
C0205698
Neoplastic Process
20.

Sarcomatoid Carcinoma

A malignant epithelial neoplasm characterized by the presence of spindle cells. [from NCI_CDISC]

MedGen UID:
60009
Concept ID:
C0205697
Neoplastic Process
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