| CHARGE | coloboma, heart disease, atresia choanae, retarded growth and retarded development and/or CNS anomal... |
|---|---|
| CHH | cartilage-hair hypoplasia |
| COACH | cerebellar vermis hypoplasia/aplasia-oligophrenia-congenital ataxia-ocular colobomata-hepatic fibros... |
| FCAH | familial cytomegaly adrenocortical hypoplasia [syndrome] |
| FDH | familial dysalbuminemic hyperthyroxinemia; focal dermal hypoplasia; formaldehyde dehydrogenase |
| hypoplasia of the thymus and parathyroids | Also known as the digeorge syndrome (dgs), this disorder is characterised by (1) low blood calcium levels (hypocalcaemia) due to underdevelopment (hypoplasia) of the parathyroid glands needed to control calcium; (2) underdevelopment (hypoplasia) of the thymus, an organ behind the breastbone in which lymphocytes mature and multiply; and (3) defects of the outflow tracts from the heart. most cases of dgs are due to a microdeletion in chromosome band 22q11.2. A small number of cases have defects in other chromosomes, notably 10p13. Named after the american paediatric endocrinologist angelo digeorge. Another name for dgs is the third and fourth pharyngeal pouch syndrome (since the faulty structures in dgs are embryologically derived from the third and fourth pharyngeal pouches). (12 Dec 1998) |
|---|---|
| dental enamel hypoplasia | <dentistry> A form of amelogenesis imperfecta characterised by incomplete formation of the dental enamel and transmitted as an x-linked or autosomal dominant trait. It is also associated with vitamin a, c, or d deficiency, infectious disease, prematurity, birth injury, rh incompatibility, trauma, or local infection. Small grooves, pits, and fissures are seen in mild cases, deep horizontal rows of pits in severe cases, or absence of enamel in extreme cases. (12 Dec 1998) |
| optic nerve hypoplasia | Congenitally small optic disk resulting from failure of development of retinal ganglion cells, with a reduced number of axons; visual impairment may be marked. See: de Morsier's syndrome. (05 Mar 2000) |
| thymic hypoplasia | diGeorge syndrome |
| thymus and parathyroids, hypoplasia of | See third and fourth pharyngeal pouch syndrome. (12 Dec 1998) |
| enamel hypoplasia | A developmental disturbance of teeth characterised by deficient or defective enamel matrix formation; may be hereditary, as in amelogenesis imperfecta, or acquired, as encountered in dental fluorosis, local infection, childhood fevers, and congenital syphilis. (05 Mar 2000) |
| focal dermal hypoplasia | A genetic skin disease characterised by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an x-linked dominant trait. (12 Dec 1998) |
| acute renal failure | <nephrology> A sudden decline in renal function may be triggered by a number of acute disease processes. Examples include sepsis (infection), shock, trauma, kidney stones, kidney infection, drug toxicity (aspirin or lithium), poisons or toxins (drug abuse) or after injection with an iodinated contrast dye (adverse effect). Chronic renal failure represents a slow decline in kidney function over time. Chronic renal failure may be caused by a number of disorders which include long-standing hypertension, diabetes, congestive heart failure, lupus or sickle cell anaemia. Both forms of renal failure result in a life-threatening metabolic derangement. (27 Sep 1997) |
| aminoaciduria, renal | Impairment of renal tubular transport of amino acids. (12 Dec 1998) |
| back-pressure renal atrophy | <radiology> Caliectasis without obstruction, due to repeated episodes of obstruction, gradual loss of renal pyramids (12 Dec 1998) |
| base of renal pyramid | The outer broad part of a renal pyramid that lies next to the cortex. Synonym: basis pyramidis renis. (05 Mar 2000) |
| branchio-oto-renal syndrome | <syndrome> An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. (12 Dec 1998) |
| capsular branches of renal artery | <anatomy, artery> Branches arising from the renal artery outside of the kidney that are distributed to the renal capsule. Synonym: rami capsulares arteriae renalis. (05 Mar 2000) |
| captopril renal scan | <radiology> In a kidney with a lesion in the afferent arteriole (e.g. Atherosclerotic plaque), reflex constriction of the efferent arteriole occurs through angiotensin system thus maintaining renal perfusion. ACE inhibition prevents constriction of efferent arteriole. Therefore, perfusion is decreased to a kidney with afferent lesions and the renal scan to looks WORSE. Bottom line: renal scans appear WORSE with captopril administration if there is a lesion in the afferent arteriole. See: renal artery stenosis (12 Dec 1998) |
| carcinoma, renal cell | Carcinoma of the renal parenchyma usually occurring in middle age or later and composed of tubular cells in varying arrangements. It was first described in 1826. Possible causal factors are environmental, hormonal, cellular, and genetic. Smoking is a definite risk factor and obesity is associated with increased risk. Renal cell carcinoma accounts for approximately 3% of adult cancer; the male-female ratio is 2:1. It is more common among urban residents than rural. (12 Dec 1998) |