Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Unhandled Message	NCIT_C74935	[A message type for which there is no defined routing.]
ITK Deficiency	NCIT_C126344	[A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..]
Biclonal Gammopathy	NCIT_C74936	[A primary disturbance in immunoglobulin synthesis characterized by the presence of two distinct monoclonal immunoglobulins in the serum or urine.]
STAT3 Gain of Function	NCIT_C126345	[A mutation in the STAT3 gene that results in an increase in cytokine-related function. STAT3 mutations of this type are associated with infantile-onset multisystem autoimmune disease.]
STAT3 Gene Mutation	NCIT_C153514	[A change in the nucleotide sequence of the STAT3 gene.]
Drug-Induced Aplastic Anemia	NCIT_C35343	[A state of bone marrow suppression and failure that is caused by a cytotoxic or adverse immunologic response to a drug treatment, leading to a failure of production of red blood cells, white cells and platelets.]
Aplastic Anemia	NCIT_C2870	[Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.]
Hemoglobin D Disease	NCIT_C35344	[A condition characterized by the presence of a variant of normal hemoglobin (hemoglobin D), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule.]
Acquired Factor VIII Deficiency	NCIT_C35345	[An acquired coagulation disorder characterized by the partial or complete absence of factor VIII activity in the blood.]
Hemophilia	NCIT_C3093	[A deficiency or abnormality of a blood coagulation factor characterized by the tendency to hemorrhage. Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (hereditary factor VIII deficiency) hemophilia B or Christmas disease (hereditary factor IX deficiency), and hemophilia C (hereditary factor XI deficiency). Factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in acquired hemophilia known as acquired factor VIII deficiency. Approximately 10% of patients with acquired hemophilia have an underlying malignancy.]
Acquired Coagulation Factor Deficiency	NCIT_C34347	[Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.]
Lymph Node Disorder	NCIT_C35346	[Any disorder of the lymph nodes.]
Second Degree Uterine Prolapse	NCIT_C35340	[The uterus has descended to the level of the hymen.]
Partial Retinal Vein Occlusion	NCIT_C35341
Retinal Vein Occlusion	NCIT_C34981	[An occlusion of the retinal vein.]
Visual Pathway Disorder	NCIT_C35342	[A disorder of the neural pathway from the optic nerve to the visual cortex.]
Visual Pathway	NCIT_C41445	[A set of neural connections within the central nervous system, beginning with the retina and terminating in the occipital cortex, that provides the ability to process visual images.]
Hinge Device	NCIT_C49988	[A device designed to join two objects and allow them to swing relative to one another.]
Holder Device	NCIT_C49989	[A device designed to hold another object.]
Integrated Circuit Chip Device	NCIT_C49995	[A microelectronic device that incorporates many interconnected transistors and components.]