Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_fatal post-viral neurodegenerative disorder	Orphanet_391343
Amniotic bands	Orphanet_1034
Terminal limb defects	Orphanet_294929
obsolete_encephalopathy due to beta-mercaptolactate-cysteine disulfiduria	Orphanet_1035
obsolete_hyperdibasic aminoaciduria type 1	Orphanet_1032
obsolete_aceruloplasminemia	Orphanet_48818
obsolete_growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	Orphanet_391348
sRAGE measurement	EFO_0007622	[quantification in a plasma sample of the levels of soluble Receptor for Advanced Glycation End-products (sRAGE). sRAGE is a strong markers of vascular outcomes]
obsolete_Amelogenesis imperfecta - nephrocalcinosis	Orphanet_1031	[Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.]
bone mineral content measurement	EFO_0007621	[quantification of the form or content of one or more of the mineral components of bone]
volumetric bone mineral density	EFO_0007620	[quantification of the mineral mass per unit volume of bone, generally expressed in grams per cubic centimeter or per ml. This is not to be confused with bone mineral density as calculated per unit area of bone (grams per square centimeter), which is the definition most commonly used in clinical practice.]
airway imaging measurement	EFO_0007627	[Quantification of the size of or level of damage to a person's airways using medical imaging techniques such as CT scans. This approach is used in the diagnosis and assessment of respiratory disorders such as COPD and emphysema]
asthenia	EFO_0007625	[Clinical sign or symptom manifested as debility, or lack or loss of strength and energy.]
suicide	EFO_0007624	[the process of deliberately and successfully terminating one's life]
suicide behaviour	EFO_0007623	[Any behaviour related to suicide, including suicide ideation and self-harm]
hemoglobin A1 measurement	EFO_0007629	[Hemoglobin A1 measurement is a measure of the quantity of the metallo protein hemoglobin A. Hemoglobin A (HbA), also known as adult hemoglobin or a2b2, is the most common human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin. It consists of two alpha chains and two beta chains.]
gas trapping measurement	EFO_0007628	[Quantification of the amount of air that is abnormally retained in the lungs at the end of an exhalation. ]
obsolete_arthrogryposis multiplex congenita	Orphanet_1037
process quality	PATO_0001236	[A quality which inheres in an process.]
cofactor transport	GO_0051181	[The directed movement of a cofactor into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A cofactor is a substance that is required for the activity of an enzyme or other protein.]