| COD-MD | cerebro-ocular dysplasia-muscular dystrophy [syndrome] |
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| CRD | carbohydrate-recognition domain; chronic renal disease; chronic respiratory disease; child restraint... |
| CXMD | canine X-linked muscular dystrophy |
| DD | dangerous drug; data definition; day of delivery; degenerated disc; degenerative disease; delusional... |
| DDS | damaged disc syndrome; dendrodendritic synaptosome; dental distress syndrome; depressed DNA synthesi... |
| hereditary pancreatitis | <radiology> Rare, autosomal dominant, variable penetrance, onset often in childhood, on X-ray: large, round, peripherally dense calculi (12 Dec 1998) |
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| hereditary peroneal nerve dysfunction | <neurology> A slowly progressive genetic disorder characterised by muscle atrophy in the feet and the legs, progressing to the hands and arms, due to a disorder involving the destruction of nerves (degeneration of the myelin sheath). Other features include foot drop and a slapping gait. There is no specific treatment for this disorder. (27 Sep 1997) |
| 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 sensory radicular neuropathy | Neuropathy characterised by the occurrence of severe, relapsing foot ulcerations of neuropathic origin, destruction of terminal digits of feet and hands, and a loss of sensation; autosomal dominant inheritance is associated with onset in the second decade or later. (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) |
| pseudohypertrophic muscular dystrophy | The most common childhood muscular dystrophy, with onset usually before age 6. Characterised by symmetrical weakness and wasting of first the pelvic and crural muscles and then the pectoral and proximal upper extremity muscles; pseudohypertrophy of some muscles, especially the calf; heart involvement; sometimes mild mental retardation; progressive course and early death, usually in adolescence. X-linked inheritance (affects males and transmitted by females). Synonym: childhood muscular dystrophy, Duchenne's disease, pseudohypertrophic muscular dystrophy. (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) |
| hypertrophic dystrophy | Increase in the number of cells in a squamous epithelium. Synonym: hypertrophic dystrophy. (05 Mar 2000) |
| 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) |