| CHANDS | curly hair-ankylobleph-aron- nail dysplasia syndrome |
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| COD-MD | cerebro-ocular dysplasia-muscular dystrophy [syndrome] |
| DGSX | X-linked dysplasia gigantism syndrome |
| HARD | hydrocephalus-agyria-retinal dysplasia [syndrome] |
| HARD | +/- E hydrocephalus-agyria-retinal dysplasia plus or minus encephalocele [syndrome] |
| addisonian syndrome | Adrenocortical insufficiency usually as the result of idiopathic atrophy or destruction of both adrenal glands by tuberculosis, an autoimmune process, or other diseases; characterised by fatigue, decreased blood pressure, weight loss, increased melanin pigmentation of the skin and mucous membranes, anorexia, and nausea or vomiting; without appropriate replacement therapy, it can progress to acute adrenocortical insufficiency. Synonym: Addison's disease, addisonian syndrome, hyposupradrenalism, morbus Addisonii. (05 Mar 2000) |
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| adherence syndrome | <syndrome> Restriction action of an ocular muscle owing to adhesions between the muscle and its fascial sheath. (05 Mar 2000) |
| Adie syndrome | <syndrome> A condition manifested by usually one tonic pupil with absent tendon reflexes. An idiopathic postganglionic denervation of the parasympathetically innervated intraocular muscles, usually complicated by signs of aberrant regeneration of these nerves: a weak light reaction with segmental palsy of iris sphincter, a strong slow near response. Deep tendon reflexes, particularly ankle and knee, are often asymmetrically reduced. See: tonic pupil. Synonym: Adie's pupil, Holmes-Adie pupil, Holmes-Adie syndrome, pupillotonic pseudotabes. (05 Mar 2000) |
| adiposogenital syndrome | A disorder characterised primarily by obesity and hypogonadotrophic hypogonadism in adolescent boys; dwarfism is rare, and when present is thought to reflect hypothyroidism. Visual loss, behavioural abnormalities, and diabetes insipidus may occur. Frohlich's syndrome often is used synonymously for this disorder, although the original case involved a pituitary tumour; most cases are thought to result from hypothalamic dysfunction in areas regulating appetite and gonadal development. The most common causes are pituitary and hypothalamic neoplasms. Synonym: adiposis orchica, adiposogenital degeneration, adiposogenital dystrophy, adiposogenital syndrome, hypophysial syndrome, hypothalamic obesity with hypogonadism. Origin: L. Fr. G. Dys-, bad, + trophe, nourishment (05 Mar 2000) |
| adrenal cortical syndrome | <syndrome> An inexact (and obsolete) term that has been applied to Cushing's syndrome, Addison's disease, or the adrenogenital syndrome. (05 Mar 2000) |
| adrenal virilizing syndrome | Virilism produced by excessive or abnormal secretory patterns of adrenocortical steroids. Synonym: adrenal virilizing syndrome. (05 Mar 2000) |
| adrenogenital syndrome | <syndrome> A general term for a group of disorders which involve hyperplasia (or malignant tumours) of the adrenal cortex. Features include masculinisation of women, feminisation of men or precocious sexual development of children. (27 Sep 1997) |
| adult respiratory distress syndrome | <chest medicine, syndrome> A clinical syndrome that includes pulmonary insufficiency. It is a descriptive term that is applied to a variety of diffuse infiltrative processes in the lung. Manifestations include severe shortness of breath, rapid breathing and arterial hypoxaemia (low oxygen). Chest X-ray shows bilateral diffuse infiltrates. Treatment most often includes mechanical respiratory support. Causes include toxic gas (chlorine, NO2, smoke) exposure, severe metabolic derangement, gastric acid aspiration, pancreatitis, sepsis and trauma. Acronym: ARDS (12 Jul 2000) |
| afferent loop syndrome | <syndrome> A complication of gastrojejunostomy, caused by acute or chronic obstruction of the afferent loop due to hernia, intussusception, kinking, volvulus, etc. It is characterised by pain and vomiting of bile-stained fluid and includes acute afferent loop obstruction and bilious vomiting. (12 Dec 1998) |
| aglossia-adactylia syndrome | <syndrome> Congenital absence or hypoplasia of the tongue, associated with absence of the digits. (05 Mar 2000) |
| Ahumada-Del Castillo syndrome | <syndrome> Unphysiological lactation and amenorrhoea not following pregnancy characterised by hyperprolactinaemia and a pituitary adenoma. Synonym: Argonz-Del Castillo syndrome. (05 Mar 2000) |
| Aicardi's syndrome | <syndrome> Agenesis of the corpus collosum with infantile spasms in female babies. (05 Mar 2000) |
| alagille syndrome | <syndrome> Hypoplasia of the hepatic ducts, congenital pulmonary artery stenosis, facial abnormalities, and other congenital malformations, particularly skeletal. It is often presented as jaundice during the neonatal period. It is an autosomal recessive disease generally manifesting during childhood. "arteriohepatic" refers to the pulmonary artery and the intrahepatic bile ducts, not to the hepatic artery. (12 Dec 1998) |
| Albright's syndrome | <syndrome> A condition of cystic bone growth that results from abnormal bone development. May occur with bone lesions, skin pigmentation and endocrine abnormalities. See: McCune-Albright syndrome. (27 Sep 1997) |
| alcohol amnestic syndrome | <syndrome> An amnestic syndrome resulting from alcoholism; alcoholic "blackouts." Cf.: Korsakoff's syndrome. (05 Mar 2000) |