Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Mitochondrial Hydroxyacyl-Coenzyme A Dehydrogenase Hyperinsulinism	NCIT_C131837	[Hyperinsulinism due to inactivating mutation(s) in the gene HADH, encoding mitochondrial (short-chain) hydroxyacyl-coenzyme A dehydrogenase, resulting in loss of inhibition of glutamate dehydrogenase (GDH). This condition is also characterized by protein-induced hypoglycemia, but in contrast to GLUD1-associated hyperinsulinism, hyperammonemia is absent.]
Mitochondrial Uncoupling Protein 2 Hyperinsulinism	NCIT_C131838	[Hyperinsulinism due to mutation(s) in the gene UCP2, encoding mitochondrial uncoupling protein 2, which plays a role in attenuating insulin secretion.]
Monocarboxylate Transporter 1 Hyperinsulinism	NCIT_C131839	[Hyperinsulinism due to mutation(s) in the regulatory region of the SLC16A1 gene, encoding monocarboxylate transporter 1 (MCT1). The mutation(s) result in aberrant expression of MCT1 in the beta cell, leading to inappropriate insulin secretion and hypoglycemia triggered by anaerobic exercise.]
Bronchogenic Carcinoma	NCIT_C35875	[A lung carcinoma arising from the bronchial epithelium.]
Malignant Bronchial Neoplasm	NCIT_C156885	[A malignant neoplasm that affects the bronchial tree.]
Lung Carcinoma	NCIT_C4878	[A carcinoma originating in the lung. Lung carcinomas usually arise from the epithelium that lines the bronchial tree (bronchogenic carcinomas), and are classified as small cell or non-small cell carcinomas. Non-small cell lung carcinomas are usually adenocarcinomas, squamous cell carcinomas, or large cell carcinomas. Metastatic carcinomas to the lung are also common, and can be difficult to distinguish from primary tumors.]
SGRQ-C - Cannot Take a Bath or Shower	NCIT_C106880	[St. George's Respiratory Questionnaire for COPD Patients (SGRQ-C) These are questions about how your activities might be affected by your respiratory problems: I cannot take a bath or shower, or I take a long time to do it.]
Childhood Intracranial Neoplasm	NCIT_C35876	[A neoplasm that arises within the skull and occurs during childhood.]
Intracranial Neoplasm	NCIT_C4953	[A benign or malignant neoplasm that arises from or metastasizes to structures within the cranium. This includes meningeal and other tumors that occur in the spaces that surround the brain, and neoplasms of the brain.]
Childhood Central Nervous System Neoplasm	NCIT_C5132	[A benign or malignant neoplasm of the brain, spinal cord, or meninges occurring in children. Representative examples include posterior fossa astrocytoma, optic pathway glioma, medulloblastoma, ependymoma, and craniopharyngioma.]
SGRQ-C - Walk Slower Than Other People My Age	NCIT_C106881	[St. George's Respiratory Questionnaire for COPD Patients (SGRQ-C) These are questions about how your activities might be affected by your respiratory problems: I walk slower than other people my age, or I stop to rest.]
SGRQ-C - Jobs Take a Long Time	NCIT_C106882	[St. George's Respiratory Questionnaire for COPD Patients (SGRQ-C) These are questions about how your activities might be affected by your respiratory problems: Jobs such as household chores take a long time, or I have to stop to rest.]
Monoclonal Paraproteinemia	NCIT_C35878
Paraproteinemia	NCIT_C27468	[A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Paraproteinemias may be seen in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. --2004]
Hyperthyroxinemia	NCIT_C131850	[Supranormal concentration of thyroxine in the blood.]
SGRQ-C - Get Exhausted Easily	NCIT_C106872	[St. George's Respiratory Questionnaire for COPD Patients (SGRQ-C) Some more questions about your cough and breathlessness: I get exhausted easily.]
Pagetoid Proliferation	NCIT_C35893
Morphologic Architectural Pattern	NCIT_C35886	[A microscopic finding that relates to the architectural patterns of a normal or abnormal cellular population in a tissue specimen.]
Hyperphosphatemic Familial Tumoral Calcinosis	NCIT_C131851	[An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone.]
Congenital Metabolic Disorder	NCIT_C34816	[A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body.]