| QST | quantitative sensory test |
|---|---|
| SAP | sensory action potential; serum acid phosphatase; serum alkaline phosphatase; serum amyloid P; situs... |
| SBRN | sensory branch of radial nerve |
| SCSIT | Southern California Sensory Integration Test |
| SCV | sensory nerve conduction velocity; smooth, capsulated, virulent; subclavian vein; squamous-cell carc... |
| hereditary persistence of foetal haemoglobin | <haematology> Hereditary persistence of foetal haemoglobin is a genetic condition where adult types of haemoglobin fail to develop and the types of haemoglobin the individual had as a foetus remains present well past the point when they would normally have stopped being produced. (09 Oct 1997) |
|---|---|
| hereditary progressive arthro-ophthalmopathy | Autosomal dominant arthro-ophthalmopathy associated with progressive multiple dysplasia of the epiphyses, overtubulation of long bones, cleft lip and palate, hypermobility of joints, flattened vertebral bodies, pelvic bone deformities, and deafness. Synonym: Stickler's syndrome. (05 Mar 2000) |
| hereditary pyropoikilocytosis | A rare recessive disorder manifested by severe haemolysis, marked poikilocytosis, and a characteristic sensitivity of the red cells to heat-induced fragmentation in vitro; apparently due to a defect in spectrin self-association. Synonym: hereditary pyropoikilocytosis. (05 Mar 2000) |
| hereditary spherocytosis | <haematology> A hereditary disorder that leads to a chronic haemolytic anaemia due to an abnormality in the red blood cell membrane. This disorder is caused by a defective gene. Red cells are resistant to stress and rupture easily. Infants may appear jaundiced and pale. Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). After this is accomplished the life-span of the red blood cells returns to normal. (27 Sep 1997) |
| hereditary spinal ataxia | Sclerosis of the posterior and lateral columns of the spinal cord, occurring in children and marked by ataxia in the lower extremities, extending to the upper, followed by paralysis and contractures; autosomal recessive inheritance. See: spinocerebellar ataxia. Synonym: Friedreich's ataxia, heredotaxia. (05 Mar 2000) |
| hereditary syphilis | Synonym: congenital syphilis. (05 Mar 2000) |
| hyperbilirubinaemia, hereditary | Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood. (12 Dec 1998) |
| spastic paraplegia, hereditary | An insidiously progressive inherited disorder (probably autosomal dominant) characterised by distal limb weakness. Stiffness of the legs in walking due to the spasticity marks the onset of the disorder. Peripheral sensory neurons may be affected in the later stages of the disease. (12 Dec 1998) |
| spherocytosis, hereditary | A familial congenital haemolytic anaemia characterised by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions. (12 Dec 1998) |
| neoplastic syndromes, hereditary | The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumour tends to occur at an earlier than average age, individuals may have more than one primary tumour, the tumours may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. (12 Dec 1998) |
| nephritis, hereditary | Hereditary disease characterised initially by haematuria and slowly progressing to renal insufficiency. It is sometimes associated with perceptual deafness and/or congenital ocular defects. (12 Dec 1998) |
| oedema, hereditary angioneurotic | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
| optic atrophy, hereditary | An inherited disorder in which optic atrophy is associated with muscle weakness, peroneal muscular atrophy and, in some patients, lancinating pains. In these patients the peripheral sensory neurons are probably affected. (12 Dec 1998) |
| telangiectasia, hereditary haemorrhagic | An autosomal dominant vascular anomaly characterised by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, associated with recurrent episodes of bleeding from affected sites and gross or occult melena. (12 Dec 1998) |
| elliptocytosis, hereditary | An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. (12 Dec 1998) |