| albinism | <dermatology> Condition in which no melanin (or other pigment) is present. (05 Feb 1998) |
|---|---|
| albinism, ocular | Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is x-linked (nettleship-falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. (12 Dec 1998) |
| albinism, oculocutaneous | Heterogeneous group of autosomal recessive disorders comprising at least four recognised types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types. (12 Dec 1998) |
| rufous albinism | A pigmentary anomaly of blacks, characterised by red or yellow-red hair colour, copper-red skin, and often by dilution of iris pigment. Synonym: rufous albinism. Origin: G. Xanthos, yellowish (05 Mar 2000) |
| cutaneous albinism | An autosomal dominant condition characterised by patterned loss of skin pigment on extremities and ventral thorax; a white forelock is often present, but no ocular findings. (05 Mar 2000) |
| ocular albinism | The absence of pigment chiefly in the iris, choroid, and retinal pigment epithelium with deafness; X-linked inheritance. (05 Mar 2000) |
| oculocutaneous albinism | An autosomal recessive deficiency of pigment in skin, hair, and eyes; in the tyrosinase negative type, there is an absence of tyrosinase; in the tyrosinase positive type, there is normal tyrosinase which cannot enter pigment cells; it is transmitted by an autosomal recessive inheritance. The compound heterozygote is normal so the two forms are not allelic. There are several types: type IA is characterised by absence of tyrosinase with life-long complete absence of melanin, marked photophobia, and nystagmus. Type IB, yellow albinism with low or absent tyrosinase; improves with age. Type II, with normal tyrosinase activity is the most common; hair darkens and nevi and freckles develop. Type III is characterised by absent tyrosinase but pigmentation of the iris in the first decade. Type IV in Africans with normal tyrosinase. Type V with red hair. Type VI, Hermansky-Padlak syndrome, with haemorrhage due to platelet deficiency and low to absent tyrosinase. Synonym: Hermansky-Pudlak syndrome type VI. (05 Mar 2000) |
| radical mastectomy, total | Breast cancer treatment involving removal of the breast, the pectoral (chest) muscles, lymph nodes (the glands ) in the armpit and associated skin and subcutaneous tissue. (12 Dec 1998) |
| parenteral nutrition, home total | The at-home administering of nutrients for assimilation and utilization by a patient whose sole source of nutrients is via solutions administered intravenously, subcutaneously or by some other non-alimentary route. (12 Dec 1998) |
| parenteral nutrition, total | The delivery of nutrients for assimilation and utilization by a patient whose sole source of nutrients is via solutions administered intravenously, subcutaneously, or by some other non-alimentary route. The basic components of tpn solutions are protein hydrolysates or free amino acid mixtures, monosaccharides, and electrolytes. Components are selected for their ability to reverse catabolism, promote anabolism, and build structural proteins. (12 Dec 1998) |
| reversal of organs, total | This condition (medically called situs inversus totalis) involves complete transposition (right to left reversal) of the thoracic and abdominal organs. The heart is not in its usual position in the left chest but is on the right. Specifically related to the heart, this is referred to as dextrocardia (literally, right-hearted). And the stomach, which is normally in the left upper abdomen, is on the right. In patients with situs inversus totalis, all of the chest and abdominal organs are reversed and appear in mirror image when examined or visualised by tests such as X-ray filming. Situs inversus totalis has been estimated to occur once in about 6-8,000 births. Situs inversus occurs in a rare abnormal condition that is present at birth (congenital) called kartagener's syndrome. (12 Dec 1998) |
| communication methods, total | Utilization of all available receptive and expressive modes for the purpose of achieving communication with the hearing impaired, such as gestures, postures, facial expression, types of voice, formal speech and non-speech systems, and simultaneous communication. (12 Dec 1998) |
| congenital total lipodystrophy | Lipodystrophy characterised by almost complete lack of subcutaneous fat, accelerated rate of growth and skeletal development during the first 3 to 4 years of life, muscular hypertrophy, cardiac enlargement, hepatosplenomegaly, hypertrichosis, renal enlargement, hypertriglyceridemia, and hypermetabolism; both autosomal dominant and X-linked varieties exist. (05 Mar 2000) |
| hysterectomy, total | Complete surgical removal of the uterus and cervix. Also called a complete hysterectomy. (12 Dec 1998) |
| near-total thyroidectomy | Removal of nearly all of each thyroid lobe leaving unresected only a small portion of gland adjacent to the entrance of the recurrent laryngeal nerve into the larynx. (05 Mar 2000) |