Terminology Service < Semantic Lookup Platform

All terms in MESHD

Label	Id	Description
Basal Cell Nevus Syndrome	D001478	[Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.]
Urogenital Neoplasms	D014565	[Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female.]
Visceral Prolapse	D014782	[The prolapse or downward displacement of the VISCERA.]
Breast Cyst	D047688	[A fluid-filled closed cavity or sac that is lined by an EPITHELIUM and found in the BREAST. It may appear as a single large cyst in one breast, multifocal, or bilateral in FIBROCYSTIC BREAST DISEASE.]
Protoporphyria, Erythropoietic	D046351	[An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.]
Porphyria, Variegate	D046350	[An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.]
Respiratory Sounds	D012135	[Noises, normal and abnormal, heard on auscultation over any part of the RESPIRATORY TRACT.]
Geotrichosis	D005847	[Infection due to the fungus Geotrichum.]
Respiratory Paralysis	D012133	[Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders.]
Bone Cysts, Aneurysmal	D017824	[Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures.]
Furcation Defects	D017823	[Conditions in which a bifurcation or trifurcation of the molar tooth root becomes denuded as a result of periodontal disease. It may be followed by tooth mobility, temperature sensitivity, pain, and alveolar bone resorption.]
Canavan Disease	D017825	[A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)]
Machado-Joseph Disease	D017827	[A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)]
Superior Vena Cava Syndrome	D013479	[A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms.]
Battered Child Syndrome	D001497	[A clinical condition resulting from repeated physical and psychological injuries inflicted on a child by the parents or caregivers.]
Restless Legs Syndrome	D012148	[A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.]
Superior Mesenteric Artery Syndrome	D013478	[DUODENAL OBSTRUCTION by the superior mesenteric artery (MESENTERIC ARTERY, SUPERIOR) which travels in the root of the MESENTERY and crosses over the DUODENUM. The syndrome is characterized by the dilated proximal duodenum and STOMACH, bloating, ABDOMINAL CRAMPS, and VOMITING. Often it is observed in patient with body casts after spinal surgery.]
Duodenal Obstruction	D004380	[Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents.]
Sunstroke	D013474	[Heat stroke caused by exposure to the sun. It is characterized by dangerously high BODY TEMPERATURE; red, hot skin; DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly.]
Heat Stroke	D018883	[A condition caused by the failure of body to dissipate heat in an excessively hot environment or during PHYSICAL EXERTION in a hot environment. Contrast to HEAT EXHAUSTION, the body temperature in heat stroke patient is dangerously high with red, hot skin accompanied by DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly.]