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1.

Malignant Breast Neoplasm

A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. [from NCI]

MedGen UID:
651
Concept ID:
C0006142
Neoplastic Process
2.

breast cancer

MedGen UID:
880206
Concept ID:
CN235590
Finding
3.

Neoplasm of the breast

Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare.In its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts. [from GTR]

MedGen UID:
264172
Concept ID:
C1458155
Neoplastic Process
4.

Breast carcinoma

A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla. [from NCI]

MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
5.

Risk factor

An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, on the basis of epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. [from MeSH]

MedGen UID:
48477
Concept ID:
C0035648
Finding
6.

Age at Menopause

The age at which permanent cessation of menses occurs. [from NCI]

MedGen UID:
810903
Concept ID:
C1629609
Finding
7.

Robinow syndrome, autosomal recessive

ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature with growth retardation, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood. [from GTR]

MedGen UID:
341431
Concept ID:
C1849334
Disease or Syndrome
8.

Age at menarche

Age of first menstruation. A risk factor for breast cancer [from NCI]

MedGen UID:
232871
Concept ID:
C1314691
Finding
9.

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
10.

Richards-Rundle syndrome

An extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. [from SNOMEDCT_US]

MedGen UID:
163219
Concept ID:
C0796136
Disease or Syndrome
11.

Unilateral

Being present on only the left or only the right side of the body. [from HPO]

MedGen UID:
64372
Concept ID:
C0205092
Spatial Concept
12.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
13.

Reproductive History

An account of all reproductive events and problems a person has experienced. An important aggregate factor in epidemiological studies of women's health. The concept usually includes the number and timing of pregnancies and their outcomes, the incidence of breast feeding, and may include age of menarche and menopause, regularity of menstruation, fertility, gynecological or obstetric problems, or contraceptive usage.(from On-line Medical Dictionary) [from NCI]

MedGen UID:
64507
Concept ID:
C0206076
Finding
14.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
15.

Parity finding

The number of offspring a female has borne. It is contrasted with GRAVIDITY, which refers to the number of pregnancies, regardless of outcome. [from MeSH]

MedGen UID:
45332
Concept ID:
C0030563
Finding
16.

dermopathy

An abnormality of the skin. [from HPO]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
17.

Para 1

Pregnant with, or having borne, only one child or offspring. [from PSY]

MedGen UID:
19470
Concept ID:
C0033150
Finding
18.

Pregnancy

The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth. [from NCI]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
19.

Multiparous

MedGen UID:
6459
Concept ID:
C0026751
Finding
20.

Disorder of breast

A non-neoplastic or neoplastic disorder that affects the breast. Representative examples of non-neoplastic disorders include fibrocystic disease, gynecomastia, and mastitis. Representative examples of neoplastic disorders include fibroadenoma, lobular neoplasia, carcinoma, lymphoma, and sarcoma. [from NCI]

MedGen UID:
652
Concept ID:
C0006145
Disease or Syndrome
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