| MCR | Medical Corps Reserve; melanocortin receptor; message competition ratio; metabolic clearance rate; m... |
|---|---|
| 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... |
| AHC | Adrenal hypoplasia congenita |
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| ACC | Aplasia cutis congenita |
| AMC | Arthrogryposis Multiplex Congenita |
| CMTC | Cutis Marmorata Telangiectatica Congenita |
| DC | Dyskeratosis Congenita |
| myotonia congenita | A congenital genetic disease characterised by tonic spasm and rigidity of certain muscles when an attempt is made to move them after a period of rest or when mechanically stimulated. The stiffness disappears as the muscles are moved. (12 Dec 1998) |
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| myotonia | Increased muscular irritability and contractility with decreased power of relaxation; toxic spasm of muscle. (12 Dec 1998) |
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| myotonia acquisita | Acquired myotonia following exposure to certain toxins. (05 Mar 2000) |
| myotonia atrophica | A rare, slowly progressive, hereditary disease transmitted as an autosomal dominant trait and characterised by myotonia followed by atrophy of the muscles, cataracts, hypogonadism, balding, and cardiac abnormalities. (12 Dec 1998) |
| myotonia dystrophica | <neurology> An inherited human neuromuscular disease classed as an autosomal dominant disease in which there is progressive muscle weakening and wasting. A triplet repeat syndromes (like fragile X syndrome), this most common adult form of muscular dystrophy is caused by expansion of the unstable trinucleotide repeat CTG in the 3' untranslated region on chromosome 19q13 (cAMP-dependent muscle protein kinase gene). Anticipation has been associated with further expansion of the repeat upon transmission to subsequent generations (the inheritance pattern is autosomal dominant), although contraction has been noted to occur as well. Especially severe neonatal cases have been born to affected mothers preferentially, suggesting a role for genomic imprinting as well. The classic physical signs include atrophy of facial muscles, cataracts, and delayed muscle relaxation. Detection of the expanded trinucleotide repeat is accomplished by PCR or Southern blot and expansion appears to correlate with decreased transcription of the protein kinase gene. Inheritance: autosomal dominant. (29 Dec 1997) |
| myotonia neonatorum | Hypocalcaemic tetany occurring in neonates or young infants, due to transient functional hypoparathyroidism in consumption of cow's milk (high phosphorus content). Synonym: myotonia neonatorum, tetania neonatorum, tetanism. (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) |
| arthrogryposis multiplex 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) |
| pachyonychia congenita | A syndrome of ectodermal dysplasia of abnormal thickness and elevation of nail plates with palmar and plantar hyperkeratosis; the tongue is whitish and glazed owing to papillary atrophy; autosomal dominant inheritance. Synonym: Jadassohn-Lewandowski syndrome. (05 Mar 2000) |
| 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) |
| 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) |
| myatonia 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) |
| hyperkeratosis congenita | most common form of ichthyosis characterised by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait. (12 Dec 1998) |
Synonyms : Generalized Myotonia of Becker, Generalized Myotonia of Thomsen, Myotonia Levior, Myotonia, Generalized, Thomsen's Disease, Thomsens Disease, Generalized Myotonia, Generalized Myotonia, Becker, Generalized Myotonias, Myotonia, Becker Generalized
| myotonia congenita |
a mild, rare, congenital form of myotonia characterized by muscle stiffness
출처: wordnet.princeton.edu/perl/webwn
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| myotonia congenita | a mild, rare, congenital form of myotonia characterized by muscle stiffness |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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