Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Glutamate Dehydrogenase 1 Hyperinsulinism	NCIT_C131832	[Hyperinsulinism due to activating mutation(s) in the GLUD1 gene, encoding glutamate dehydrogenase 1. This condition is characterized by protein induced hypoglycemia and hyperammonemia, which is presumed to be due to increased ammonia production in the kidney.]
ADCS-ADL MCI - Description of Usual Performance of Balancing Checkbook	NCIT_C106899	[Alzheimer's Disease Cooperative Study-Activities of Daily Living Inventory, MCI (ADCS-ADL MCI) If yes, which best describes how he or she usually performed.]
Hepatocyte Nuclear Factor 1-Alpha Hyperinsulinism	NCIT_C131833	[Hyperinsulinism due to mutation(s) in the gene HNF1A, encoding the transcription factor hepatocyte nuclear factor 1-alpha. This condition may progress to diabetes later in life.]
Hepatocyte Nuclear Factor 4-Alpha Hyperinsulinism	NCIT_C131834	[Hyperinsulinism due to mutation(s) in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4-alpha. This condition may progress to diabetes later in life.]
Hyperinsulinism in the Infant of a Diabetic Mother	NCIT_C131835	[Transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia.]
Colorectal Cancer Pathologic TNM Finding v6	NCIT_C60835
Colorectal Cancer TNM Finding v6	NCIT_C60833	[A finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v6 classification system.]
Cadherin-2	NCIT_C60831	[Cadherin-2 (906 aa, ~100 kDa) is encoded by the human CDH2 gene. This protein is involved in both neural stem cell anchorage and quiescence.]
ACVR1 Gene	NCIT_C21267	[This gene plays a role in the transforming growth factor-beta signal transduction pathway through serine/threonine specificity.]
Receptor Serine/Threonine Kinase Gene	NCIT_C21364	[Receptor Serine/Threonine Kinase Genes encode receptor proteins that each bind to specific signaling factors causing a conformational and functional change in the ligand-bound receptor, altering its interaction with target molecules, increasing the receptor kinase activity, and leading to changes in cellular physiology through modification of the activity of one or more signal transduction pathways.]
Oxygen Saturation Measurement	NCIT_C60832	[The measurement of the ratio of oxygenated hemoglobin to total hemoglobin in the blood.]
Diagnostic Procedure	NCIT_C18020	[Any procedure or test to diagnose a disease or disorder.]
ACVR1B Gene	NCIT_C21268	[This gene plays a role in the transforming growth factor-beta signal transduction pathway. The gene also plays a role in the regulation of cellular growth, differentiation and signal transduction.]
Pancreatic Carcinoma	NCIT_C3850	[A carcinoma arising from the exocrine pancreas. The overwhelming majority of pancreatic carcinomas are adenocarcinomas.]
Cell Growth	NCIT_C16402	[The complex series of phenomena occurring after cell division and before cell death.]
Digestive System Cancer TNM Finding v6	NCIT_C64395	[A finding about one or more characteristics of digestive system cancer, following the rules of the TNM AJCC v6 classification system.]
ACVRL1 Gene	NCIT_C21269	[This gene is involved in the mediation of cell-surface receptor interactions for the TGF-beta superfamily of ligands.]
Hereditary Hemorrhagic Telangiectasia	NCIT_C35064	[An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas.]
Colorectal Cancer Clinical TNM Finding v6	NCIT_C60834
Activin Receptor Type-2B	NCIT_C21274	[Activin receptor type-2B (512 aa, ~58 kDa) is encoded by the human ACVR2B gene. This protein plays a role in protein kinase-dependent signaling and embryonic development.]