Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| neonatal jaundice | EFO_1000739 | [A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.] |
| neonatal anemia | MONDO_0001240 | [The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.] |
| benign lipomatous neoplasm | MONDO_0044983 | [A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.] |
| loiasis | EFO_1000729 | [Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis., A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis.] |
| filariasis | MONDO_0016075 | [A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.] |
| lichen planus | EFO_1000726 | [A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known., A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus.] |
| lichen disease | EFO_1000724 | [A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin., a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.] |
| lipodystrophy | EFO_1000727 | [a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. ("Lipo" is Greek for "fat", and "dystrophy" is Greek for "abnormal or degenerative condition".), A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.] |
| lichen nitidus | EFO_1000725 | [a chronic inflammatory disease of unknown etiology characterized by 1–2 mm, discrete and uniform, shiny, flat-topped, pale flesh-colored or reddish-brown papules that may appear as hypopigmented against dark skin., A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.] |
| Kimura disease | EFO_1000722 | [Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease., a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes.] |
| lymphadenitis | MONDO_0002052 | [Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process.] |
| Hernia | HP_0100790 | |
| leg dermatosis | EFO_1000723 | [A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed), dermatosis in the leg] |
| mitochondrial DNA depletion syndrome, hepatocerebrorenal form | MONDO_0018197 | |
| inherited renal tubular disease | MONDO_0015962 | |
| mitochondrial DNA depletion syndrome, hepatocerebral form | MONDO_0016808 | |
| autosomal dominant childhood-onset proximal spinal muscular atrophy | MONDO_0018190 | |
| autosomal dominant proximal spinal muscular atrophy | MONDO_0016224 | [Autosomal dominant form of proximal spinal muscular atrophy.] |
| maxillary sinus cholesteatoma | EFO_1000731 | [A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment., A cholesteatoma located_in paranasal sinus.] |
| disorder of facial skeleton | MONDO_0023369 | [A disease that involves the facial skeleton.] |