| SHFD | split hand/foot deformity |
|---|---|
| CAV | congenital absence of vagina; congenital adrenal virilism; constant angular velocity; croup-associat... |
| CC | calcaneal-cuboid; calcium cyclamate; cardiac catheterization; cardiac contusion; cardiac cycle; card... |
| CHA | Canadian Hospital Association; Catholic Health Association; Chinese hamster; chronic hemolytic anemi... |
| CHD | Chediak-Higashi disease; childhood disease; chronic hemodialysis; congenital or congestive heart dis... |
| torsional deformity | In orthopedics, a deformity caused by rotation of a portion of an extremity with relationship to the long axis of the entire extremity. (05 Mar 2000) |
|---|---|
| equinus deformity | Plantar declination of the foot. (12 Dec 1998) |
| erlenmeyer flask deformity | <radiology> Abnormal modeling of metaphysis, osteopetrosis, chronic anaemia (e.g., SSD), Gaucher disease, Niemann-Pick disease, fibrous dysplasia, Pyle disease (metaphyseal dysplasia) (12 Dec 1998) |
| J-sella deformity | Pear-shaped or J-shaped deformity of sella turcica caused by increased pressure on growing sphenoid bone; noted in the mucopolysaccharide storage diseases. (05 Mar 2000) |
| keyhole deformity | Mucosal ectropion at the posterior edge of the anus following sphincterotomy at that location. (05 Mar 2000) |
| kirner deformity | <radiology> Familial incurving of 5th distal phalanx (12 Dec 1998) |
| lobster-claw deformity | See: ectrodactyly. (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) |