Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect	NCIT_C126810	[An autosomal dominant condition presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone, associated with loss-of-function mutation(s) in the NR3C2 gene, encoding the mineralocorticoid receptor.]
Recovered or Resolved with Sequelae	NCIT_C49495	[One of the possible results of an adverse event outcome where the subject recuperated but retained pathological conditions resulting from the prior disease or injury.]
Hyponatremic Mineralocorticoid Resistance due to Urinary Tract Infection	NCIT_C126811	[A transient condition associated with urinary tract infections in infants presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone.]
Nucleotide-Binding Oligomerization Domain-Containing Protein 2	NCIT_C74449	[Nucleotide-binding oligomerization domain-containing protein 2 (1040 aa, ~115 kDa) is encoded by the human NOD2 gene. This protein is involved in the activation of caspases and the immune response to bacterial challenge.]
NPC1L1 Gene	NCIT_C74460	[This gene plays a role in lipid transport.]
Cholesterol Homeostasis	NCIT_C29885	[Any of the processes involved in the maintenance of an internal equilibrium of cholesterol within an organism or cell. (Gene Ontology)]
NPC1L1 wt Allele	NCIT_C74461	[Human NPC1L1 wild-type allele is located in the vicinity of 7p13 and is approximately 29 kb in length. This allele, which encodes Niemann-Pick C1-like protein 1, is involved in the mediation of cholesterol and lipid transport. Mutations in the gene may be associated with ezetimibe treatment resistance.]
7p13	NCIT_C13524	[A chromosome band present on 7p]
Niemann-Pick C1-Like Protein 1	NCIT_C74462	[Niemann-Pick C1-like protein 1 (1359 aa, ~149 kDa) is encoded by the human NPC1L1 gene. This protein is a multipass transmembrane protein and plays a role in cholesterol and lipid homeostasis.]
Adverse Event Outcome	NCIT_C49489	[A condition or event that is attributed to the adverse event and is the result or conclusion of the adverse event.]
CDISC SDTM Anatomical Location Terminology	NCIT_C74456	[Terminology codelist used with Anatomical Locations within the Clinical Data Interchange Standards Consortium Study Data Tabulation Model.]
CDISC SEND Terminology	NCIT_C77526	[The terminology subset that includes terms relevant to the Clinical Data Interchange Standards Consortium (CDISC) Standard for Exchange of Non-clinical Data (SEND) group.]
Pediatric Terminology	NCIT_C90259	[Core library of terms associated with pediatrics, representing information related to child health and development from pre-birth through 21 years of age; contributed by the National Institute of Child Health and Human Development.]
MPL NM_005373.2:c.1543_1545delTGGinsAAA	NCIT_C126827	[A complex substitution where the nucleotide sequence at positions 1543 and 1545 of the coding sequence of the MPL gene has changed from thymine-guanine-guanine to adenine-adenine-adenine.]
MPL Gene Mutation	NCIT_C126821	[A change in the nucleotide sequence of the MPL gene.]
MPL NP_005364.1:p.W515K	NCIT_C126825	[A change in the amino acid residue at position 515 in the thrombopoietin receptor protein where tryptophan has been replaced by lysine.]
CDISC SDTM Race Terminology	NCIT_C74457	[Terminology codelist used to identify the race of an individual within the Clinical Data Interchange Standards Consortium Study Data Tabulation Model.]
GAIA Level of Diagnostic Certainty	NCIT_C126828	[A classification of maternal and fetal outcomes developed by the Global Alignment of Immunization safety Assessment in pregnancy, based on the extent to which the diagnosis has been confirmed.]
Classification	NCIT_C25161	[A method of generalization, the systematic arrangement of entities into classes or groups based on mutual similarity and certain differing characteristics.]
Almond	NCIT_C74458