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1.

Gastrointestinal stroma tumor

MedGen UID:
451979
Concept ID:
CN117614
Finding
2.

Gastrointestinal Autonomic Nerve Tumor

A variant of gastrointestinal stromal tumor with ultrastructural features of neural differentiation. It is composed of spindle or epithelioid neoplastic cells. [from NCI]

MedGen UID:
419826
Concept ID:
C2931518
Neoplastic Process
3.

Stromal Neoplasm

A tumor that arises in the supporting connective tissue of an organ. [from NCI]

MedGen UID:
209308
Concept ID:
C0879615
Neoplastic Process
4.

Gastrointestinal stromal tumor

Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (Miettinen et al., 1999, 1999). GISTs can also be seen in neurofibromatosis-1 (NF1; 162200) due to mutations in the NF1 gene, and are thus distinct from the GISTs described here. Sandberg and Bridge (2002) reviewed the cytogenetics and molecular genetics of gastrointestinal stromal tumors. Coffey et al. (2007) reviewed the clinical features, pathogenesis, and molecular treatments of Menetrier disease (137280) and GIST, both of which are hyperproliferative disorders of the stomach caused by dysregulated receptor tyrosine kinases. [from OMIM]

MedGen UID:
116049
Concept ID:
C0238198
Neoplastic Process
5.

Neuroma

A tumor made up of nerve cells and nerve fibers. [from HPO]

MedGen UID:
75787
Concept ID:
C0273482
Injury or Poisoning
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.

Rare soft tissue tumor

MedGen UID:
798555
Concept ID:
CN205605
Disease or Syndrome
9.

Paraganglioma and gastric stromal sarcoma

A familial syndrome characterised by gastrointestinal stromal tumours and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localisation and the size of the tumours. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumours is inherited in an autosomal dominant manner with incomplete penetrance. [from SNOMEDCT_US]

MedGen UID:
376098
Concept ID:
C1847319
Disease or Syndrome
10.

Death (finding)

MedGen UID:
220997
Concept ID:
C1306577
Finding
11.

Chronic myeloid leukemia

Chronic myeloid leukemia is a slow-growing cancer of the blood-forming tissue (bone marrow). Normal bone marrow produces red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In chronic myeloid leukemia, the bone marrow produces too many white blood cells. Initially, these cells function relatively normally. However, as the condition progresses, immature white blood cells called myeloblasts (or blasts) accumulate in the blood and bone marrow. The overgrowth of myeloblasts impairs development of other blood cells, leading to a shortage of red blood cells (anemia) and platelets.Chronic myeloid leukemia usually begins after age 60. Common features include excessive tiredness (fatigue), fever, and weight loss. Many affected individuals develop an enlarged spleen (splenomegaly), which can cause a feeling of fullness in the abdomen and a loss of appetite. About half of people with chronic myeloid leukemia do not initially have any signs and symptoms and are diagnosed when a blood test is performed for another reason.The condition consists of three phases: the chronic phase, the accelerated phase, and the blast phase (or blast crisis). In the chronic phase, the number of mature white blood cells is elevated, and myeloblasts account for less than 10 percent of blood cells. Signs and symptoms of the condition during this phase are typically mild or absent and worsen slowly. The chronic phase can last from months to years. In the accelerated phase, the number of myeloblasts is slightly higher, making up 10 to 29 percent of blood cells. The signs and symptoms continue to worsen. The accelerated phase usually lasts 4 to 6 months, although it is skipped in some affected individuals. In blast crisis, 30 percent or more of blood or bone marrow cells are myeloblasts. Signs and symptoms are most severe in this phase, including a massively enlarged spleen, bone pain, and weight loss. Serious infections and uncontrolled bleeding can be life-threatening.
[from GHR]

MedGen UID:
7321
Concept ID:
C0023473
Neoplastic Process
12.

Disorder of autonomic nervous system

Your autonomic nervous system is the part of your nervous system that controls involuntary actions, such as the beating of your heart and the widening or narrowing of your blood vessels. When something goes wrong in this system, it can cause serious problems, including. - Blood pressure problems. - Heart problems. - Trouble with breathing and swallowing. - Erectile dysfunction in men. Autonomic nervous system disorders can occur alone or as the result of another disease, such as Parkinson's disease, alcoholism and diabetes. Problems can affect either part of the system, as in complex regional pain syndromes, or all of the system. Some types are temporary, but many worsen over time. When they affect your breathing or heart function, these disorders can be life-threatening. Some autonomic nervous system disorders get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
218837
Concept ID:
C1145628
Disease or Syndrome
13.

Neoplasm of the nervous system

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

MedGen UID:
45046
Concept ID:
C0027766
Neoplastic Process
14.

Disorder of gastrointestinal tract

A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas. [from NCI]

MedGen UID:
8970
Concept ID:
C0017178
Disease or Syndrome
15.

Digestive System Neoplasms

new abnormal digestive system 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; includes neoplasms of any of the organs that are associated with ingestion, digestion, and absorption of food. [from CRISP]

MedGen UID:
8398
Concept ID:
C0012243
Neoplastic Process
16.

Neoplasm of the gastrointestinal tract

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

MedGen UID:
4846
Concept ID:
C0017185
Neoplastic Process
17.

KIT Protein Variant

A variation in the amino acid sequence for the mast/stem cell growth factor receptor Kit protein. [from NCI]

MedGen UID:
926390
Concept ID:
C4288858
Cell or Molecular Dysfunction
18.

Mesenchymal tumor of small intestine

MedGen UID:
891800
Concept ID:
CN237511
Disease or Syndrome
19.

Rare autonomic nervous system disorder

MedGen UID:
891773
Concept ID:
CN237503
Disease or Syndrome
20.

Rare tumor of small intestine

MedGen UID:
891695
Concept ID:
CN237510
Disease or Syndrome
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