Terminology Service < Semantic Lookup Platform

All terms in MESHD

Label	Id	Description
Keratoderma, Palmoplantar, Epidermolytic	D053546	[An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9.]
Keratoderma, Palmoplantar, Diffuse	D015776	[An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present.]
Hearing Loss, Noise-Induced	D006317	[Usually refer to hearing loss due to a single noise event such as an explosion or shotgun blast., Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz.]
Mycobacterium avium-intracellulare Infection	D015270	[A nontuberculous infection when occurring in humans. It is characterized by pulmonary disease, lymphadenitis in children, and systemic disease in AIDS patients. Mycobacterium avium-intracellulare infection of birds and swine results in tuberculosis.]
Acute Disease	D000208	[Disease having a short and relatively severe course.]
Gallstones	D042882	[Gallstones that are present in the COMMON BILE DUCT, but are usually formed in the GALLBLADDER., Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin.]
Carcinoma, Merkel Cell	D015266	[A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)]
Carcinoma, Neuroendocrine	D018278	[A group of carcinomas which share a characteristic morphology, often being composed of clusters and trabecular sheets of round "blue cells", granular chromatin, and an attenuated rim of poorly demarcated cytoplasm. Neuroendocrine tumors include carcinoids, small ("oat") cell carcinomas, medullary carcinoma of the thyroid, Merkel cell tumor, cutaneous neuroendocrine carcinoma, pancreatic islet cell tumors, and pheochromocytoma. Neurosecretory granules are found within the tumor cells. (Segen, Dictionary of Modern Medicine, 1992)]
Choledocholithiasis	D042883	[Presence or formation of GALLSTONES in the COMMON BILE DUCT.]
Churg-Strauss Syndrome	D015267	[Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.]
Seizures, Febrile	D003294	[Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)]
Seizures	D012640	[Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."]
Heart Aneurysm	D006322	[A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture.]
Antley-Bixler Syndrome Phenotype	D054882	[An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)., Autosomally recessive Antley-Bixler Syndrome with ambiguous genitalia and disturbed steroidogenesis, and associated with mutations in the POR gene, encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)., Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2.]
Implant Capsular Contracture	D057910	[The shrinkage of the foreign body encapsulation scar tissue that forms around artificial implants imbedded in body tissues.]
Foreign-Body Reaction	D005549	[Chronic inflammation and granuloma formation around irritating foreign bodies.]
Prosthesis Failure	D011475	[Malfunction of implantation shunts, valves, etc., and prosthesis loosening, migration, and breaking.]
Monieziasis	D008989	[Infection of ruminants with tapeworms of the genus Moniezia.]
Aspartylglucosaminuria	D054880	[A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.]
Monkeypox	D045908	[A viral disease infecting PRIMATES and RODENTS. Its clinical presentation in humans is similar to SMALLPOX including FEVER; HEADACHE; COUGH; and a painful RASH. It is caused by MONKEYPOX VIRUS and is usually transmitted to humans through BITES or via contact with an animal's BLOOD. Interhuman transmission is relatively low (significantly less than smallpox).]