| MCR | Medical Corps Reserve; melanocortin receptor; message competition ratio; metabolic clearance rate; m... |
|---|---|
| GOH | geroderma osteodysplastica hereditaria |
| KHM | keratoderma hereditaria mutilans |
| LH | late healing; lateral hypothalamic [syndrome]; left hand; left heart; left hemisphere; left hyperpho... |
| THH | telangiectasia hereditaria haemorrhagica; trichohyalin |
| adynamia episodica hereditaria | Hyperkalaemic periodic paralysis, without myotonia. (05 Mar 2000) |
|---|---|
| porphyria cutanea tarda hereditaria | A form of hepatic porphyria (porphyria, hepatic) characterised by photosensitivity resulting in bullae that rupture easily to form shallow ulcers. This condition occurs in two forms: a sporadic, nonfamilial form that begins in middle age and has normal amounts of uroporphyrinogen decarboxylase with diminished activity in the liver; and a familial form in which there is an autosomal dominant inherited deficiency of uroporphyrinogen decarboxylase in the liver and red blood cells. (12 Dec 1998) |
| protocoproporphyria hereditaria | Porphyria characterised by abdominal pain and neuropsychiatric abnormalities, by dermal sensitivity to light and mechanical trauma, by increased faecal excretion of proto-and coproporphyrin, and by increased urinary excretion of d-aminolevulinic acid, porphobilinogen, and porphyrins; due to a deficiency of protoporphyrinogen oxidase; autosomal dominant inheritance. Synonym: protocoproporphyria hereditaria, South African type porphyria. (05 Mar 2000) |
| syphilis hereditaria | <radiology> Wimberger sign, periostitis, part of ToRCHS complex (12 Dec 1998) |
| syphilis hereditaria tarda | Syphilis, believed to be congenital, but not manifesting itself until several years after birth. (05 Mar 2000) |
| myotonia | Increased muscular irritability and contractility with decreased power of relaxation; toxic spasm of muscle. (12 Dec 1998) |
| 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 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) |
| 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) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|