| CDF | chondrodystrophia foetalis |
|---|---|
| ACC | accommodation; acetyl coenzyme A carboxylase; acinic cell carcinoma; acute care center; adenoid cyst... |
| AMC | academic medical center; acetylmethyl carbinol; Animal Medical Center; antibody-mediated cytotoxicit... |
| CMTC | cutis marmorata telangiectatica congenita |
| DC | daily census; data communication; data conversion; decrease; deep compartment; Dental Corps; deoxych... |
| RCDP | Rhizomelic Chondrodysplasia Punctata |
|---|---|
| AHC | Adrenal hypoplasia congenita |
| ACC | Aplasia cutis congenita |
| AMC | Arthrogryposis Multiplex Congenita |
| CMTC | Cutis Marmorata Telangiectatica Congenita |
| chondrodystrophia congenita punctata | Congenital shortening of the humerus and femur, with stippled epiphyses, high-arched palate, cataracts, erythroderma in the newborn, and scaling followed by follicular atrophoderma; there is also an autosomal dominant inheritance pattern . Synonym: chondrodystrophia congenita punctata. (05 Mar 2000) |
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| chondrodystrophia calcificans congenita | A developmental error of the epiphyses characterised by severe deformities, epiphyses ossified from several discrete centres and with a stippled appearance, and thickened shafts of the long bones; congenital cataract and mental retardation are often present. There is an autosomal dominant form and an autosomal recessive form. Synonym: chondrodysplasia punctata, chondrodystrophia calcificans congenita, hypoplastic foetal chondrodystrophy, stippled epiphysis. (05 Mar 2000) |
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| chondrodystrophia | <embryology, orthopaedics> A disturbance in the development of cartilage, primarily the long bones. This can result in arrested growth and dwarfism. (15 Jan 1998) |
| acne punctata | Acne with black open comedones. (05 Mar 2000) |
| retinopathy punctata albescens | A disease in which both fundi show numerous white dots through the retina; causes night blindness. (05 Mar 2000) |
| chondrodysplasia punctata | A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (chondrodysplasia punctata, rhizomelic), an autosomal dominant form (conradi-hunermann syndrome), and a milder x-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form. (12 Dec 1998) |
| chondrodysplasia punctata, rhizomelic | An autosomal recessive form of chondrodysplasia punctata characterised by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondrial bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (12 Dec 1998) |
| Cooperia punctata | Species that occurs mainly in cattle, less commonly in sheep, water buffalo, and several wild ruminants; although worldwide in distribution, it is especially widespread in North America and common in Hawaii. Synonym: Cooperia fieldingi. (05 Mar 2000) |
| Haemaphysalis cinnabarina punctata | A race of Haemaphysalis in Europe, north Africa, and Japan; larvae and nymphs feed on terrestrial reptiles, and adults on various domestic herbivores, rabbits, and hedgehogs; it transmits bovine babesiosis and anaplasmosis. (05 Mar 2000) |
| psoriasis punctata | Psoriasis in which the individual lesions are papules, each red in colour, and tipped with a single white scale. (05 Mar 2000) |
| dysplasia epiphysialis punctata | A developmental error of the epiphyses characterised by severe deformities, epiphyses ossified from several discrete centres and with a stippled appearance, and thickened shafts of the long bones; congenital cataract and mental retardation are often present. There is an autosomal dominant form and an autosomal recessive form. Synonym: chondrodysplasia punctata, chondrodystrophia calcificans congenita, hypoplastic foetal chondrodystrophy, stippled epiphysis. (05 Mar 2000) |
| keratosis punctata | Horny papules over the palms, soles, and digits that develop central plugs; seen commonly in blacks. Synonym: keratoma disseminatum, keratosis punctata. (05 Mar 2000) |
| amaurosis congenita of Leber | An autosomal recessive cone-rod abiotrophy causing blindness or severely reduced vision at birth. (05 Mar 2000) |
| amyoplasia congenita | Limitation of range of joint motion and contractures present at birth, usually involving multiple joints; a syndrome probably of diverse aetiology that may result from changes in spinal cord, muscle, or connective tissue. Several forms exist, autosomal dominant, recessive, and X-linked. Synonym: amyoplasia congenita. (05 Mar 2000) |
| amyotonia congenita | Atonic pseudoparalysis of congenital origin (neither familial nor hereditary), observed especially in infants and characterised by absences of muscular tone only in muscles innervated by the spinal nerves. Synonym: congenital atonic pseudoparalysis, myatonia congenita, Oppenheim's disease, Oppenheim's syndrome. An indefinite term for a number of congenital neuromuscular disorders that cause generalised myotonia in young children, and that have a benign course (static or regressive). (05 Mar 2000) |
| aplasia cutis congenita | Congenital absence or deficiency of a localised area of skin, with the base of the defect covered by a thin translucent membrane; most often a single area near the vertex of the scalp, but may occur in other areas; underlying structures may also be affected; autosomal inheritance, either dominant or recessive. (05 Mar 2000) |
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