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Items: 12

1.

Pre-malignant neoplasm

A neoplasm considered precancerous and/or with high potential to become malignant. In solid organ neoplasms, the neoplasm has not broken through a basement membrane. [from SNOMEDCT_US]

MedGen UID:
1837212
Concept ID:
C5817154
Neoplastic Process
2.

Chromosome 1q deletion

Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. [from MONDO]

MedGen UID:
1825942
Concept ID:
C5679674
Cell or Molecular Dysfunction
3.

Chromosome 11;14 translocation

A cytogenetic abnormality that involves a translocation between chromosomes 11 and 14. [from NCI]

MedGen UID:
925363
Concept ID:
C4287831
Cell or Molecular Dysfunction
4.

Plasma cell neoplasm

A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes multiple myeloma, plasma cell leukemia, plasmacytoma, and plasma cell post-transplant lymphoproliferative disorder. [from NCI]

MedGen UID:
368758
Concept ID:
C1959632
Neoplastic Process
5.

monoclonal gammopathy

An abnormal laboratory test result indicating the presence of monoclonal immunoglobulins in the blood or urine. [from NCI]

MedGen UID:
210153
Concept ID:
C1136085
Neoplastic Process
6.

Hereditary retinoblastoma

An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities affecting the RB1 gene. Patients with the inherited form appear to be at increased risk for secondary non-ocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. [from NCI]

MedGen UID:
155869
Concept ID:
C0751483
Neoplastic Process
7.

Vascular hemostatic disease

Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets. [from MONDO]

MedGen UID:
154721
Concept ID:
C0600502
Disease or Syndrome
8.

Monoclonal gammopathy of undetermined significance

A condition in which an abnormal amount of a single immunoglobulin is present in the serum. This category includes IgM monoclonal gammopathy of undetermined significance and non-IgM monoclonal gammopathy of undetermined significance. Up to 25% of cases of monoclonal gammopathy of undetermined significance progress to a B-cell malignancy or myeloma. [from NCI]

MedGen UID:
44485
Concept ID:
C0026470
Neoplastic Process
9.

Retinoblastoma

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is associated with susceptibility for retinoblastoma as well as non-ocular tumors. [from GeneReviews]

MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
10.

Paraproteinemia

An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. [from HPO]

MedGen UID:
10577
Concept ID:
C0030489
Disease or Syndrome
11.

Multiple myeloma

Multiple myeloma is a neoplastic plasma cell disorder characterized by clonal proliferation of malignant plasma cells in the bone marrow microenvironment, monoclonal protein in the blood or urine, and associated organ dysfunction (Palumbo and Anderson, 2011). [from OMIM]

MedGen UID:
10122
Concept ID:
C0026764
Neoplastic Process
12.

Hemorrhagic disease

Evidence of a hemorrhagic condition. [from NCI]

MedGen UID:
6799
Concept ID:
C0019087
Disease or Syndrome
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