Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| T wave amplitude | EFO_0008333 | [quantification of the magnitude of the T wave, the part of the electrocardiograph that represents the repolarisation or recovery of the ventricles] |
| fear of severe pain measurement | EFO_0008338 | [quantification of some aspect of fear of severe pain, generallly assessed through the use of a structured questionnaire] |
| fear of medical pain measurement | EFO_0008339 | [quantification of some aspect of fear of pain related to medical treatments such as dental treatments. FoP is generallly assessed through the use of a structured questionnaire] |
| social anxiety disorder | EFO_1001917 | [Social anxiety disorder (SAD), also known as social phobia, is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life., An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable.] |
| separation anxiety disorder | EFO_1001916 | [Separation anxiety disorder (SAD), is an anxiety disorder in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment (e.g. a parent, caregiver, significant other or siblings)., An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.] |
| obsolete_Renal nutcracker syndrome | EFO_1001915 | [Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome.] |
| radiation-induced gastrointestinal mucositis | EFO_1001914 | [inflammation and ulceration of the gastrointestinal mucosa as a result of radiation treatment] |
| gastrointestinal mucositis | EFO_1001891 | |
| Purpura Fulminans | EFO_1001913 | [A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock.] |
| obsolete_partial duplication of the short arm of chromosome 11 | Orphanet_262785 | |
| pulmonary nodular amyloidosis | EFO_1001911 | [Nodular pulmonary amyloidosis, also known as nodular parenchymal amyloidosis or nodular amyloidoma, is defined as 1 or more tumefactive amyloid deposits involving the lungs. [PMID:28134587]] |
| amyloidoma | EFO_1001874 | [Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good.] |
| obsolete_familial partial epilepsy | Orphanet_309 | |
| Unverricht-Lundborg disease | Orphanet_308 | |
| Spinal cord injury | EFO_1001919 | [Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces.] |
| obsolete_juvenile myoclonic epilepsy | Orphanet_307 | |
| obsolete_benign familial infantile epilepsy | Orphanet_306 | |
| Birt-Hogg-Dube syndrome | MONDO_0007607 | [Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.] |
| hypocretin deficiency | EFO_0008323 | [lack of production by brain cells of hypocretin, also called orexin, a neuropeptide that regulates arousal, wakefulness and appetite. Hypocretin deficiency causes the most common form of narcolepsy] |
| obsolete_junctional epidermolysis bullosa | Orphanet_305 |