| 영문 | osteogenesis imperfecta | 한글 | 불완전골생성증 |
|---|---|---|---|
| 설명 | 비교적 희귀한 유전성 전신성 결체조직병으로 인한 골의 취약성으로 다발성골절을 유발한다. 이 병은 중증형과 지연형의 2가지가 있다. 중증형은 선천적으로 발생하여 출생후부터 다발성골절과 사지단축 및 변형이 있으며, 대부분 사산되거나 출생후 수시간내에 사망한다. 지연형은 소아에서 골절이 호발하나 쉽게 치유되며, 때로는 다량의 신생골을 형성하여 부정유합이 흔하다. 골절은 특히 하지에 많이 발생하며 골절유합기간은 정상골과 같다. 다발성골절로 여러 가지 형태의 기형이 생기며 척추측만곡도 동반된다. 또한 청색공막(blue sclera)과 철모를 쓴 머리모양(helmet head)의 이마를 관찰할 수 있다. 특이한 치료법은 없고 경험적인 치료에 그친다. 치료는 골절치료 정도이다. |
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| OIC | osteogenesis imperfecta congenita |
|---|---|
| OI | obturator internus; occasional insomnia; opportunistic infection; opsonic index; orgasmic impairment... |
| OIF | observed intrinsic frequency; oil immersion field; Osteogenesis Imperfecta Foundation |
| AI | accidental injury; accidentally incurred; adiposity index; aggregation index; allergy and immunology... |
| AIH | amelogenesis imperfecta, hypomaturation type; American Institute of Homeopathy; artificial inseminat... |
| O.I. | Osteogenesis Imperfecta |
|---|---|
| DO | Distraction osteogenesis |
| AI | Amelogenesis imperfecta |
| DI | Dentinogenesis imperfecta |
| AHC | Adrenal hypoplasia congenita |
| osteogenesis imperfecta | <orthopaedics, paediatrics> A group of genetic diseases of the bones. Divided into four types all result in brittle and frail bones. Multiple broken bones are common. Other features include deafness, white of the eyes appear bluish, kyphosis, kyphoscoliosis, tooth abnormalities, chest deformities and short stature. There is no specific treatment. Genetic counseling is important for families with the disease. (27 Sep 1997) |
|---|---|
| osteogenesis | <pathology> Production of bone. (18 Nov 1997) |
| osteogenesis, distraction | Bone lengthening by gradual mechanical distraction. An external fixation device produces the distraction across the bone plate. The technique was originally applied to long bones but in recent years the method has been adapted for use with mandibular implants in maxillofacial surgery. (12 Dec 1998) |
| amelogenesis imperfecta | An autosomal dominant or x-linked disorder in which there is faulty development of the dental enamel owing to agenesis, hypoplasia, or hypocalcification of the enamel. It is marked by enamel that is very thin and friable and frequently stained in various shades of brown. (12 Dec 1998) |
| dentinogenesis imperfecta | An autosomal dominant disorder of tooth development characterised by opalescent dentin resulting in discoloration of the teeth, ranging from dusky blue to brownish. The dentin is poorly formed with an abnormally low mineral content; the pulp canal is obliterated, but the enamel is normal. The teeth usually wear down rapidly, leaving short, brown stumps. (12 Dec 1998) |
| odontogenesis imperfecta | A localised arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp and the enamel is thin and absent in part. (12 Dec 1998) |
| enamelogenesis imperfecta | An autosomal dominant or x-linked disorder in which there is faulty development of the dental enamel owing to agenesis, hypoplasia, or hypocalcification of the enamel. It is marked by enamel that is very thin and friable and frequently stained in various shades of brown. (12 Dec 1998) |
| erythrogenesis imperfecta | Congenital nonregenerative, familial hypoplastic, or pure red cell anaemia; erythrogenesis imperfecta; Diamond-Blackfan syndrome; autosomal recessive normocytic normochromic anaemia resulting from congenital hypoplasia of the bone marrow, which is grossly deficient in erythroid precursors while other elements are normal; anaemia is progressive and severe, but leukocyte and platelet counts are normal or slightly reduced; survival of transfused erythrocytes is normal; minor congenital anomalies are found in some patients. Synonym: congenital nonregenerative anaemia, Diamond-Blackfan anaemia, Diamond-Blackfan syndrome, erythrogenesis imperfecta, familial hypoplastic anaemia, pure red cell anaemia. (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) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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