Terminology Service < Semantic Lookup Platform

All terms in MESHD

Label	Id	Description
Berylliosis	D001607	[A form of pneumoconiosis caused by inhaled rare metal BERYLLIUM or its soluble salts which are used in a wide variety of industry including alloys, ceramics, radiographic equipment, and vacuum tubes. Berylliosis is characterized by an acute inflammatory reaction in the upper airway leading to BRONCHIOLITIS; PULMONARY EDEMA; and pneumonia., Disease resulting from exposure to beryllium. Entry into the body is not limited to the inhalation route.]
Whooping Cough	D014917	[A respiratory infection caused by BORDETELLA PERTUSSIS and characterized by paroxysmal coughing ending in a prolonged crowing intake of breath.]
Wissler's Syndrome	D014924	[A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.]
Rheumatic Fever	D012213	[A febrile disease occurring as a delayed sequela of infections with STREPTOCOCCUS PYOGENES. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, and joints (POLYARTHRITIS) and brain, and by the presence of ASCHOFF BODIES in the myocardium and skin.]
Wiskott-Aldrich Syndrome	D014923	[A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.]
Giant Axonal Neuropathy	D056768	[Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).]
Hereditary Sensory and Motor Neuropathy	D015417	[A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)]
Alstrom Syndrome	D056769	[Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.]
Retinitis Pigmentosa	D012174	[Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.]
Wolfram Syndrome	D014929	[A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.]
Deaf-Blind Disorders	D054062	[The absence of both hearing and vision.]
Diabetes Mellitus, Type 1	D003922	[A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.]
Ankle Fractures	D064386	[Fractures of any of the bones of the ANKLE.]
Wolff-Parkinson-White Syndrome	D014927	[A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.]
Tabes Dorsalis	D013606	[Parenchymatous NEUROSYPHILIS marked by slowly progressive degeneration of the posterior columns, posterior roots, and ganglia of the spinal cord. The condition tends to present 15 to 20 years after the initial infection and is characterized by lightening-like pains in the lower extremities, URINARY INCONTINENCE; ATAXIA; severely impaired position and vibratory sense, abnormal gait (see GAIT DISORDERS, NEUROLOGIC), OPTIC ATROPHY; Argyll-Robertson pupils, hypotonia, hyperreflexia, and trophic joint degeneration (Charcot's Joint; see ARTHROPATHY, NEUROGENIC). (From Adams et al., Principles of Neurology, 6th ed, p726)]
Neurosyphilis	D009494	[Infections of the central nervous system caused by TREPONEMA PALLIDUM which present with a variety of clinical syndromes. The initial phase of infection usually causes a mild or asymptomatic meningeal reaction. The meningovascular form may present acutely as BRAIN INFARCTION. The infection may also remain subclinical for several years. Late syndromes include general paresis; TABES DORSALIS; meningeal syphilis; syphilitic OPTIC ATROPHY; and spinal syphilis. General paresis is characterized by progressive DEMENTIA; DYSARTHRIA; TREMOR; MYOCLONUS; SEIZURES; and Argyll-Robertson pupils. (Adams et al., Principles of Neurology, 6th ed, pp722-8)]
Waldenstrom Macroglobulinemia	D008258	[A lymphoproliferative disorder characterized by pleomorphic B-LYMPHOCYTES including PLASMA CELLS, with increased levels of monoclonal serum IMMUNOGLOBULIN M. There is lymphoplasmacytic cells infiltration into bone marrow and often other tissues, also known as lymphoplasmacytic lymphoma. Clinical features include ANEMIA; HEMORRHAGES; and hyperviscosity.]
Hand-Foot Syndrome	D060831	[Chemotherapy-induced dermal side effects that are associated with the use of various CYTOSTATIC AGENTS. Symptoms range from mild ERYTHEMA and/or PARESTHESIA to severe ulcerative dermatitis with debilitating pain involving typically palmoplantar and intertriginous areas. These cutaneous manifestations are sometimes accompanied by nail anomalies.]
Charles Bonnet Syndrome	D000075562	[Repetitive visual hallucinations experienced mostly by elderly with diminished visual acuity or visual field loss, with awareness of the fictional nature of their hallucinations. It is not associated with delusions and other sensory hallucinations.]
Hallucinations	D006212	[Subjectively experienced sensations in the absence of an appropriate stimulus, but which are regarded by the individual as real. They may be of organic origin or associated with MENTAL DISORDERS.]