| CRF | case report form; chronic renal failure; chronic respiratory failure; coagulase-reacting factor; con... |
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| CRI | Cardiac Risk Index; catheter-related infection; chronic renal insufficiency; chronic respiratory ins... |
| CES | carboxylesterase; cauda equina syndrome; cat's eye syndrome; central excitatory state; chronic elect... |
| CMS | children's medical services; Christian Medical Society; chronic myelodysplastic syndrome; chromosome... |
| AAS | Aarskog-Scott [syndrome]; acid aspiration syndrome; alcoholic abstinence syndrome; American Academy ... |
| jaundice, chronic idiopathic | A familial chronic form of nonhemolytic jaundice thought to be due to a defect in the excretion of conjugated bilirubin and certain other organic anions (e.g., sulfobromophthalein) by the liver. It is characterised by the presence of a brown, coarsely granular pigment in the hepatic cells, which is pathognomonic of the condition. (12 Dec 1998) |
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| juvenile chronic arthritis | juvenile arthritis |
| juvenile chronic arthritis, systemic-onset | See: Juvenile rheumatoid arthritis, systemic-onset (still's disease). (12 Dec 1998) |
| kidney failure, chronic | An irreversible and usually progressive reduction in renal function in which both kidneys have been damaged by a variety of diseases to the extent that they are unable to adequately remove the metabolic products from the blood and regulate the body's electrolyte composition and acid-base balance. Chronic kidney failure requires haemodialysis or surgery, usually kidney transplantation. (12 Dec 1998) |
| Aarskog-Scott syndrome | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |
| Aarskog syndrome | <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance. Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity. Inheritance: Sex-influenced autosomal dominant form, also X-linked form. (05 Aug 1998) |
| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |
| abstinence syndrome | <syndrome> A constellation of physiologic changes undergone by persons or animals who have become physically dependent on a drug or chemical due to prolonged use at elevated doses, but who are abruptly deprived of that substance. The abstinence syndrome varies with the drug to which dependence has developed. Generally the effects observed are in an opposite direction from those produced by the drug; e.g., the withdrawal syndrome from central nervous system depressants such as barbiturates and benzodiazepines consists of insomnia, restlessness, tremulousness, hallucinations, and, in the extreme, tonic-clonic convulsions which may prove fatal. The onset time and severity of the abstinence syndrome depend upon how rapidly the drug disappears from the body. (05 Mar 2000) |
| Achard syndrome | <syndrome> Arachnodactyly with small receding mandible, broad skull, and joint laxity limited to the hands and feet; genetics unclear. (05 Mar 2000) |
| Achard-Thiers syndrome | <syndrome> One form of a virilizing disorder of adrenocortical origin in women, characterised by masculinization and menstrual disorders in association with manifestations of diabetes mellitus, such as glucosuria. (05 Mar 2000) |
| Achenbach syndrome | <syndrome> Haematoma of the finger pad with accompanying oedema; of unknown cause in the absence of disturbances in blood coagulation mechanisms. (05 Mar 2000) |
| achoo syndrome | <syndrome> A disorder characterised by nearly uncontrollable paroxysms of sneezing provoked in a reflex fashion by the sudden exposure of a dark-adapted subject to intensely bright light, usually sunlight. Inheritance: autosomal dominant. (05 Aug 1998) |
| Acquired Immunodeficiency Syndrome | <immunology, syndrome> An epidemic disease caused by an infection by human immunodeficiency virus (HIV-1, HIV-2), a retrovirus that causes immune system failure and debilitation and is often accompanied by infections such as tuberculosis. AIDS is spread through direct contact with bodily fluids. Acronym: AIDS (10 May 1997) |
| acrofacial syndrome | Mandibulofacial dysostosis associated with malformations of the extremities such as defective radius and thumbs, and radioulnar synostosis. See: Treacher Collins' syndrome Synonym: acrofacial syndrome. Origin: dys-+ G. Osteon, bone, + -osis, condition (05 Mar 2000) |
| acroparesthesia syndrome | <syndrome> Abnormal sensation such as numbness and tingling in the hands, usually in middle-aged women; classic symptom of carpal tunnel syndrome. (05 Mar 2000) |