| ECG | Electro-Cardio-Graphy(-Gram); 심전도 = EKG 1. Conducting System Structu... |
|---|---|
| PMD | Progressive Muscular Dystrophy; 진행성 근이영양증 Types of PMD(Progressive Muscular Dystroph... |
| TAPVR | Total Anomalous Pulmonary Venous Return = TAPVC 4 Types of TAPVR &... |
| ALL | Acute Lymphocytic Leukemia 형태학적 분류 L1; Small, Homogenous(... |
| MEN | Multiple Endocrine Neoplasia ; AD Trait 1. MEN Type I(= Wermer Syndro... |
| MFD | Mandibulo-facial dysostosis |
|---|---|
| S.E.M.D. | spondylo-epi-metaphyseal dysplasia |
| AD | Autosomal Dominant |
| ADCA | Autosomal Dominant Cerebellar Ataxia |
| ADPKD | Autosomal Dominant Polycystic Kidney Disease |
| metaphyseal dysplasia | <radiology> (Pyle disease) also known as: craniometaphyseal dysplasia, autosomal recessive, failure of modeling of cylindrical bones, Erlenmeyer flask appearance of metaepiphyses (12 Dec 1998) |
|---|---|
| dense metaphyseal bands | <radiology> Normal variant, stress lines, heavy metal poisoning, treated rickets, scurvy, hypervitaminosis D (12 Dec 1998) |
| acrofacial dysostosis | Mandibulofacial dysostosis associated with malformations of the extremities such as defective radius and thumbs, and radioulnar synostosis. See: Treacher Collins' syndrome Synonym: acrofacial syndrome. Origin: dys-+ G. Osteon, bone, + -osis, condition (05 Mar 2000) |
| mandibuloacral dysostosis | An autosomal recessive disorder characterised by dental crowding, acro-osteolysis, stiff joints, and atrophy of the skin of the hands and feet; clavicles are hypoplastic, cranial sutures are wide, and multiple wormian bones are present. (05 Mar 2000) |
| mandibulofacial dysostosis | A hereditary disorder occurring in two forms: the complete form (franceschetti's syndrome) is characterised by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (treacher collins syndrome) is characterised by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (12 Dec 1998) |
| peripheral dysostosis | Dysostosis of the metacarpals and metatarsals, accompanied by variable facial features; possibly autosomal dominant inheritance. (05 Mar 2000) |
| metaphysial dysostosis | A rare developmental abnormality of the skeleton in which metaphyses of tubular bones are expanded by deposits of cartilage. (05 Mar 2000) |
| cleidocranial dysostosis | <paediatrics> An inherited disorder of bone development transmitted with an autosomal dominant pattern. Characteristics include absent or incompletely formed collar bones, dental abnormalities, joint laxity and a characteristic facial appearance (heavy brow, protruding jaw, wide nasal bridge and malaligned teeth). Inheritance: autosomal dominant. (27 Sep 1997) |
| craniofacial dysostosis | <paediatrics> A genetic disorder (autosomal dominant) characterised by abnormalities of the cranial sutures, widening of the skull, a high forehead, ocular hypertelorism, exophthalmos, beaked nose and hypoplasia of the maxilla Inheritance: autosomal dominant. (27 Sep 1997) |
| dysostosis | Defective bone formation. Synonym: dysostosis. Origin: dys-+ G. Osteon, bone, + genesis, production (05 Mar 2000) |
| dysostosis multiplex | <syndrome> Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis. (05 Mar 2000) |
| orodigitofacial dysostosis | <syndrome> An inherited syndrome, lethal in males, with varying combinations of defects of the oral cavity, face, and hands, including lobulated or bifid tongue, cleft or pseudocleft palate, tongue tumours, missing or malpositioned teeth, hypoplastic nasal alar cartilage, depressed nasal bridge, brachydactyly, clinodactyly, incomplete syndactyly, and, frequently, mental retardation. There are two subtypes recognised. Type I (papillon-leage and psaume syndrome, gorlin-psaume syndrome) is inherited as an x-linked dominant trait and is found only in females and XXY males. Type II (mohr syndrome) is inherited as an autosomal recessive trait. Inheritance: autosomal recessive and X-linked. Synonym: OFD syndrome, orofaciodigital syndrome, Papillon-Leage and Psaume syndrome. (05 Mar 2000) |
| otomandibular dysostosis | Hypoplasia of the mandible, often with malformation of the temporomandibular joint, associated with malformations of the ear but not eye malformations or malar defects. Synonym: otomandibular syndrome. (05 Mar 2000) |
| autosomal dominant | <genetics> Requires only one affected parent have the trait to pass it to offspring. (02 Jan 1998) |
| genes, dominant | Genes that are reflected in the phenotype both in the homozygous and the heterozygous state. (12 Dec 1998) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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