| DAVM | dural arteriovenous malformation |
|---|---|
| DWM | Dandy-Walker malformation |
| EAVM | extramedullary arteriovenous malformation |
| IAVM | intramedullary arteriovenous malformation |
| ICM | inner cell mass; integrated conditional model; intercostal margin; International Confederation of Mi... |
| flecked retina | An retina exhibiting fundus flavimaculatus, hereditary drusen, or fundus albipunctatus. (05 Mar 2000) |
|---|---|
| flecked retina syndrome | <syndrome> Hereditary retinal disorder with abnormal transmission of fluorescence through the retinal pigment epithelium on angiography. (05 Mar 2000) |
| fleck retina of Kandori | An autosomal-recessive disorder of the retinal pigment epithelium occurring among Japanese. (05 Mar 2000) |
| layers of retina | Light sensitive layer of the eye. In vertebrates, looking from outside, there are four major cell layers: (i) the outer neural retina, which contains neurons (ganglion cells, amacrine cells, bipolar cells) as well as blood vessels, (ii) the photoreceptor layer, a single layer of rods and cones, (iii) the pigmented retinal epithelium (PRE or RPE), (iv) the choroid, composed of connective tissue, fibroblasts and including a well vascularised layer, the chorio capillaris, underlying the basal lamina of the PRE. Behind the choroid is the sclera, a thick organ capsule. In molluscs (especially cephalopods such as the squid) the retina has the light sensitive cells as the outer layer with the neural and supporting tissues below. See: retinal rods, retinal cones, rhodopsin. (18 Nov 1997) |
| leopard retina | A normal fundus to which a deeply pigmented choroid gives the appearance of dark polygonal areas between the choroidal vessels, especially in the periphery. Synonym: fundus tigre, leopard fundus, leopard retina, mosaic fundus, tigroid fundus, tigroid retina. (05 Mar 2000) |
| limiting membrane of retina | One of two layers of the retina: (05 Mar 2000) |
| adrenal hyperplasia, congenital | A group of inherited disorders of adrenal steroidogenesis, the physical expression of which varies with the sex of the patient, the severity of the congenital enzyme defect, and the age at which the defect makes its presence felt. The most common form, the simple virilizing form, is due to a 21-hydroxylase deficiency. There is also a salt-losing form (a more complete 21-hydroxylase deficiency), a hypertensive form (11-hydroxylase deficiency), a 17-hydroxylase deficiency form, a desmolase deficiency form, and a 3-beta-hydroxysteroid deficiency form. (12 Dec 1998) |
| anaemia, dyserythropoietic, congenital | A familial disorder characterised by anaemia with multinuclear erythroblasts, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors. Type II is the most common of the 3 types of congenital dyserythropoietic anaemia; it is often referred to as hempas, based on the hereditary erythroblast multinuclearity with positive acidified serum test. (12 Dec 1998) |
| anaemia, haemolytic, congenital | Haemolytic anaemia due to various intrinsic defects of the erythrocyte. (12 Dec 1998) |
| anaemia, haemolytic, congenital nonspherocytic | Any one of a group of congenital haemolytic anaemias in which there is no abnormal haemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated. (12 Dec 1998) |
| bovine congenital ataxia | An autosomal recessive ataxia seen in several European breeds of cattle. (05 Mar 2000) |
| bullous congenital ichthyosiform erythroderma | Diffusely red, eroded skin at birth, with subsequent scaling, tending to improve in later life, characterised by generalised epidermolytic hyperkeratosis and autosomal dominant inheritance. See: epidermolytic hyperkeratosis. Synonym: generalised epidermolytic hyperkeratosis, ichthyismus hystrix, ichthyosis hystrix. (05 Mar 2000) |
| pain insensitivity, congenital | Absence of sensibility to pain or inability to feel pain. The condition is present at birth. (12 Dec 1998) |
| rubella syndrome, congenital | Transplacental infection of the foetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalised growth retardation. (12 Dec 1998) |
| congenital | <embryology> Existing at and usually before, birth, referring to conditions that are present at birth, regardless of their causation. Origin: L. Congenitus = born together (18 Nov 1997) |