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1.

Malignant melanoma

Melanoma is the most serious type of skin cancer. Often the first sign of melanoma is a change in the size, shape, color, or feel of a mole. Most melanomas have a black or black-blue area. Melanoma may also appear as a new mole. It may be black, abnormal, or ugly looking.. Thinking of ABCDE can help you remember what to watch for:. - Asymmetry - the shape of one half does not match the other. - Border - the edges are ragged, blurred or irregular. - Color - the color is uneven and may include shades of black, brown and tan. - Diameter - there is a change in size, usually an increase. -Evolving - the mole has changed over the past few weeks or months. Surgery is the first treatment of all stages of melanoma. Other treatments include chemotherapy and radiation, biologic, and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
9944
Concept ID:
C0025202
Neoplastic Process
2.

Melanoma

The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). [from HPO]

MedGen UID:
505377
Concept ID:
CN002586
Finding
3.

Cutaneous malignant melanoma 1

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma The locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 (155601), caused by variation in the CDKN2A gene (600160) on chromosome 9p21; CMM3 (609048), caused by variation in the CDK4 gene (123829) on chromosome 12q14; CMM4 (608035), mapped to chromosome 1p22; CMM5 (613099), caused by variation in the MC1R gene (155555) on chromosome 16q24; CMM6 (613972), caused by variation in the XRCC3 gene (600675) on chromosome 14q32; CMM7 (612263), mapped to chromosome 20q11; CMM8 (614456), caused by variation in the MITF gene (156845) on chromosome 3p13; CMM9 (615134), caused by variation in the TERT gene (187270) on chromosome 5p15; and CMM10 (615848), caused by mutation in the POT1 gene (606478) on chromosome 7q31. Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (164757), STK11 (602216), PTEN (601728), TRRAP (603015), DCC (120470), GRIN2A (138253), ZNF831, BAP1 (603089), and RASA2 (601589). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E (164757.0001) (Davies et al., 2002; Pollock et al., 2003). [from OMIM]

MedGen UID:
320506
Concept ID:
C1835047
Finding
4.

Malignant melanoma of skin

A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma. [from NCI]

MedGen UID:
57486
Concept ID:
C0151779
Neoplastic Process
5.

Course of illness

Stages or progression of physical or mental disorders. Compare PROGNOSIS. [from PSY]

MedGen UID:
116631
Concept ID:
C0242656
Pathologic Function
6.

Neoplasm

An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). [from HPO]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
7.

Neoplasms

MedGen UID:
880980
Concept ID:
CN236628
Disease or Syndrome
8.

Cutaneous melanoma

The presence of a melanoma of the skin. [from HPO]

MedGen UID:
506658
Concept ID:
CN167782
Finding
9.

Cancer, Embryonal

MedGen UID:
199639
Concept ID:
C0751364
Neoplastic Process
10.

Neuroendocrine neoplasm

Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition. [from MeSH]

MedGen UID:
64652
Concept ID:
C0206754
Neoplastic Process
11.

Nevi and Melanomas

A collective term for the various types of nevi and melanomas. [from MeSH]

MedGen UID:
61679
Concept ID:
C0206769
Neoplastic Process
12.

Neuroectodermal neoplasm

A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. [from HPO]

MedGen UID:
60072
Concept ID:
C0206093
Neoplastic Process
13.

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
14.

Uveal Neoplasm

Tumors or cancer of the UVEA. [from MeSH]

MedGen UID:
52960
Concept ID:
C0042162
Neoplastic Process
15.

Embryonal neoplasm

new abnormal embryonic tissue that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. [from CRISP]

MedGen UID:
45034
Concept ID:
C0027654
Neoplastic Process
16.

Disorder of uveal tract

A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma. [from NCI]

MedGen UID:
21804
Concept ID:
C0042161
Disease or Syndrome
17.

Disorder of skin

Your skin is your body's largest organ. It covers and protects your body. Your skin. -Holds body fluids in, preventing dehydration. -Keeps harmful microbes out, preventing infections. -Helps you feel things like heat, cold, and pain. -Keeps your body temperature even. -Makes vitamin D when the sun shines on it. Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
18.

Neoplasm of the skin

A tumor (abnormal growth of tissue) of the skin. [from HPO]

MedGen UID:
19993
Concept ID:
C0037286
Neoplastic Process
19.

Neoplastic Processes

The pathological mechanisms and forms taken by tissue during degeneration into a neoplasm and its subsequent activity. [from MeSH]

MedGen UID:
14325
Concept ID:
C0027671
Neoplastic Process
20.

Nervous tissue neoplasm

A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system). [from HPO]

MedGen UID:
14324
Concept ID:
C0027665
Neoplastic Process
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