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Items: 1 to 20 of 88

1.

Intraepithelial Neoplasia

A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia). [from NCI]

MedGen UID:
164203
Concept ID:
C0878500
Neoplastic Process
2.

Adenocarcinoma In Situ

A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics. [from NCI]

MedGen UID:
87203
Concept ID:
C0334276
Neoplastic Process
3.

Adenocarcinoma

MedGen UID:
122
Concept ID:
C0001418
Neoplastic Process
4.

Much

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

MedGen UID:
923949
Concept ID:
C4281574
Finding
5.

Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms). [from ORDO]

MedGen UID:
799574
Concept ID:
CN205702
Disease or Syndrome
6.

Epithelioma, malignant

MedGen UID:
639977
Concept ID:
C0553707
Neoplastic Process
7.

Scoliosis, isolated, susceptibility to, 1

Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994). Scoliosis may occur secondary to other hereditary disorders including Marfan syndrome (154700), dysautonomia (223900), neurofibromatosis (see 162200), Friedreich ataxia (see 229300), and muscular dystrophies. Genetic Heterogeneity of Susceptibility to Isolated Scoliosis Loci for isolated scoliosis have been mapped to chromosome 19 (IS1), chromosome 17 (IS2; 607354), chromosome 8 (IS3; 608765), chromosome 9q31-q34 (IS4; 612238), and chromosome 17q25-qter (IS5; 612239). [from OMIM]

MedGen UID:
438003
Concept ID:
C2700406
Finding
8.

Pulmonary alveolar proteinosis acquired

Pulmonary alveolar proteinosis is a pathologic entity characterized by intraalveolar surfactant accumulation. There are 3 clinically distinct forms: hereditary (usually congenital), secondary, and acquired. The acquired form of pulmonary alveolar proteinosis is the most common form, accounting for approximately 90% of cases. The mean age at diagnosis is 39 years and it is associated with smoking in 72% of cases. The estimated incidence and prevalence are 0.36 and 3.70 cases per million, respectively (Trapnell et al., 2003; Seymour and Presneill, 2002). Secondary pulmonary alveolar proteinosis develops in association with conditions involving functional impairment or reduced numbers of alveolar macrophages. Such conditions include some hematologic cancers, pharmacologic immunosuppression, inhalation of inorganic dust or toxic fumes, and certain infections. Congenital pulmonary alveolar proteinosis is a rare, severe, often fatal disorder of newborns associated with pulmonary surfactant metabolism dysfunction caused by mutations in genes involved in surfactant metabolism (see, e.g., SMDP1, 265120) (Trapnell et al., 2003). See 300770 for information on congenital PAP due to CSF2RA (306250) deficiency. [from OMIM]

MedGen UID:
410079
Concept ID:
C1970472
Disease or Syndrome
9.

Pituitary adenoma predisposition

MedGen UID:
354959
Concept ID:
C1863340
Finding
10.

Spontaneous Regression

MedGen UID:
354196
Concept ID:
C1710162
Finding
11.

Squamous Differentiation

A microscopic finding indicating the presence of cells with squamous differentiation in a tumor sample. [from NCI]

MedGen UID:
276860
Concept ID:
C1519494
Finding
12.

Transformation

The conversion of a cell from a normal phenotype, which undergoes a limited number of mitotic divisions, into an aberrant phenotype that is immortal and divides indefinitely. Transformed cells no longer retain cell-cycle checkpoints and may ultimately become malignant cancer cells via additional genetic mutations, or damaging environmental events. [from NCI]

MedGen UID:
266929
Concept ID:
C1510411
Pathologic Function
13.

Low Grade Glandular Intraepithelial Neoplasia

MedGen UID:
232706
Concept ID:
C1334423
Neoplastic Process
14.

Regression

Return to a former state; a subsidence of the symptoms of a disease process; in cancer, a decrease in the size of a tumor or in the extent of cancer in the body. [from NCI]

MedGen UID:
195771
Concept ID:
C0684320
Pathologic Function
15.

Dysplasia

A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
16.

Frequent

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
17.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
18.

Lesion

A localized pathological or traumatic structural change, damage, deformity, or discontinuity of tissue, organ, or body part. [from NCI]

MedGen UID:
65128
Concept ID:
C0221198
Finding
19.

Androgen resistance syndrome

Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia. [from GeneReviews]

MedGen UID:
21102
Concept ID:
C0039585
Disease or Syndrome
20.

Pulmonary alveolar proteinosis

MedGen UID:
18760
Concept ID:
C0034050
Disease or Syndrome
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