Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| osteoradionecrosis | EFO_1001821 | [Necrosis of bone following radiation injury.] |
| obsolete_Familial hypospadias | Orphanet_440 | |
| oroficial granulomatosis | EFO_1001820 | [A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease.] |
| obsolete_congenital muscular dystrophy with cerebellar involvement | Orphanet_370959 | |
| Posterior Leukoencephalopathy Syndrome | EFO_1001829 | [A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies).] |
| post-exercise hypotension | EFO_1001828 | [Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION.] |
| obsolete_congenital muscular dystrophy without intellectual disability | Orphanet_370980 | |
| post-concussion syndrome | EFO_1001827 | [The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging.] |
| obsolete_severe dermatitis-multiple allergies-metabolic wasting syndrome | Orphanet_369992 | |
| Poroma | EFO_1001826 | [A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin.] |
| pinguecula | EFO_1001824 | [A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS., A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus.] |
| obsolete_encephalopathy due to prosaposin deficiency | Orphanet_139406 | |
| Periprosthetic Fractures | EFO_1001823 | [Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively.] |
| Paroxysmal Hemicrania | EFO_1001822 | [A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS)., Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.] |
| trigeminal autonomic cephalalgia | MONDO_0015530 | [A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.] |
| obsolete_diffuse palmoplantar keratoderma with painful fissures | Orphanet_369999 | |
| Harlequin ichthyosis | Orphanet_457 | [Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.] |
| atrioventricular septal defect | MONDO_0020290 | [A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.] |
| obsolete_superficial epidermolytic ichthyosis | Orphanet_455 | |
| obsolete_X-linked lissencephaly with abnormal genitalia | Orphanet_452 |