| GKD | glycerol kinase deficiency |
|---|---|
| GSD | genetically significant dose; Gerstmann-Straussler disease; glutathione synthetase deficiency; glyco... |
| ID | identification; iditol dehydrogenase; immunodeficiency; immunodiffusion; immunoglobulin deficiency; ... |
| IDA | idamycin; image display and analysis; iminodiacetic acid; insulin-degrading activity; iron deficienc... |
| IDS | iduronate sulfatase; immune deficiency state; inhibitor of DNA synthesis; integrated delivery system... |
| Bernard-Sergent syndrome | Severe adrenocortical insufficiency when an intercurrent illness or trauma causes an increased demand for adrenocortical hormones in a patient with adrenal insufficiency due to disease or use of relatively large amounts of similar hormones as therapy; characterised by nausea, vomiting, hypotension, and frequently hyperthemia, hyponatraemia, hyperkalaemia, and hypoglycaemia; can be fatal if untreated. Synonym: addisonian crisis, adrenal crisis, Bernard-Sergent syndrome. (05 Mar 2000) |
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| Bernard Soulier syndrome | <haematology, syndrome> A congenital disorder where the platelets lack receptors which allow them to adhere to the walls of blood vessels. The genetic deficiency in platelet membrane glycoprotein Ib allows platelets to aggregate normally (c.f. Glanzmann's thrombasthenia) but they do not stick to collagen of sub endothelial basement membrane. The net result is a platelet function disorder that causes a prolonged bleeding time. Symptoms include nosebleeds, easy bruising, heavy menstrual periods, bleeding gums and increased post-operative bleeding. Avoidance of aspirin, anti-inflammatories or any other agents which can cause bleeding is critical. (06 Oct 1997) |
| bernard syndrome | <syndrome> A complex of abnormal findings, namely sinking in of one eyeball, ipsilateral ptosis (drooping of the upper eyelid on the same side) and miosis (constriction of the pupil of that eye) together with anhidosis (lack of sweating) and flushing of the affected side of the face. Due to paralysis of certain nerves (specifically, the cervical sympathetic nerves). Also called Horner-Bernard syndrome, Bernard-Horner syndrome and Horner's ptosis, but best known today as Horner syndrome. (12 Dec 1998) |
| Bernhardt-Roth syndrome | <symptom> A tingling, formication, itching, and other forms of paresthesia in the outer side of the lower part of the thigh in the area of distribution of the lateral femoral cutaneous nerve; there may be pain, but the skin is usually hypesthetic to the touch. Synonym: Bernhardt's disease, Bernhardt-Roth syndrome, Roth's disease, Roth-Bernhardt disease. (21 Sep 2000) |
| Bernheim's syndrome | <syndrome> Systemic congestion resembling the consequences of right heart failure (enlarged liver, distended neck veins, and oedema) without pulmonary congestion in subjects with left ventricular enlargement from any cause. A reduction in the size of the right ventricular cavity is found by contrast imaging or echocardiography or at postmortem due to encroachment by the hypertrophied or aneurysmal ventricular septum. (14 Aug 2000) |
| Besnier-Boeck-Schaumann syndrome | <disease> Disease of unknown aetiology in which there are chronic inflammatory granulomatous lesions in lymph nodes and other organs. (18 Nov 1997) |
| Beuren syndrome | <syndrome> Supravalvular aortic stenosis with multiple areas of peripheral pulmonary arterial stenosis, mental retardation, and dental anomalies. (05 Mar 2000) |
| Biemond syndrome | <syndrome> Iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly; a recessive inheritance disorder resembling Laurence-Moon and Bardet-Biedel syndrome's. (05 Mar 2000) |
| billowing mitral valve syndrome | <syndrome> The clinical constellation of findings with or without symptoms due to prolapse of the mitral valve: a nonejection systolic click accentuated in the standing posture, sometimes multiple, sometimes with mitral regurgitation occurring relatively late in systole, and accompanied by echocardiographic evidence of the mitral valve prolapse, usually with thickened leaflets of the valve. Symptoms are non-specific and may include vague chest pains and dyspnea on exertion. Synonym: billowing mitral valve syndrome. (05 Mar 2000) |
| Bjornstad's syndrome | <syndrome> Pili torti associated with sensorineural hearing loss, the severity of distortion and brittleness of the hair correlated with the degree of deafness; autosomal dominant inheritance. (05 Mar 2000) |
| Blatin's syndrome | The peculiar trembling or vibratory sensation felt on palpation of a hydatid cyst. Synonym: Blatin's syndrome, hydatid fremitus. (05 Mar 2000) |
| blind loop syndrome | <syndrome> Malabsorption, especially of vitamin b12 or folic acid, due to metabolic competition by bacteria proliferating in a segment of small intestine excluded from normal peristaltic movement; it may occur as a postoperative complication of side-to-side anastomosis of intestine, as a result of intestinal diverticula, fistula, etc. (12 Dec 1998) |
| Bloch-Sulzberger syndrome | A genetic disease with blisters that develop soon after birth on the trunk and limbs, then heal, but leave dark (hyperpigmented) streaks and marble-like whorls on the skin. (the name came from the erroneous idea that the skin cells were incontinent of pigment and could not contain it normally.) other key features of ip include dental and nail abnormalities, bald patches, and (in about 1/3rd of cases) mental retardation. Ip is an x-linked dominant with male lethality. The ip gene is in band q28 on the x chromosome. Mothers with ip have an equal chance of having a normal or ip daughter or a normal son. The ip sons die before birth. Ip is also known as bloch-sulzberger syndrome. (12 Dec 1998) |
| Bloom's syndrome | <syndrome> Congenital telangiectatic erythema, primarily in butterfly distribution, of the face and occasionally of the hands and forearms, with sensitivity of skin lesions and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull; chromosomes are excessively fragile; autosomal recessive inheritance. (05 Mar 2000) |
| bloom syndrome | <syndrome> An autosomal recessive disorder characterised by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities. (12 Dec 1998) |