극희귀질환상병목록 특정기호상병일련번호질환명영문명 V900 1 알스트롬증후군 Alstrom Syndrome V900 2 ARC 증후군 Arthrogryposis, renal tubular dysfunction, andcholestasis, ARC syndrom V900

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1 극희귀질환상병목록 특정기호상병일련번호질환명영문명 1 알스트롬증후군 Alstrom Syndrome 2 ARC 증후군 Arthrogryposis, renal tubular dysfunction, andcholestasis, ARC syndrom 3 Cowden 증후군 Cowden syndrome 4 Dent 질환 Dent diseases 5 GLUT1 결핍증 Glucose transporter type1(glut1) deficiency 6 KID 증후군 KID sydrome (Keratitis-ichthyosis-deafness) 7 가부키증후군 Kabuki syndrome 8 강직인간증후군 Stiff-man syndrome (Moersch-Woltman syndrome) 9 고함 - 스타우트병 Gorham-Stout disease(gsd) 10 굴지형성이상 Campomelic dysplasia 11 다발성골단형성이상 Multiple epiphyseal dysplasia, MED 12 단순수포성표피박리증 Epidermolysis bullosa simplex 13 데니스 - 드래쉬증후군 Denys-Drash syndrome 14 두개골간단형성부전증 Craniometaphyseal dysplasia 15 라스무센뇌염 Rasmussen's encephalitis 16 랑거기드온증후군 Langer-Giedion syndrome 17 밀러 - 디커증후군 Miller-Dieker syndrome 19 선천성무거핵구성혈소판감소증 Congenital amegakaryocytic thrombocytopenia 20 알라질증후 ( 군 ) Alagille syndrome 21 알렉산더병 Alexander disease 22 앤틀리 - 빅슬러증후군 Antley-Bixler syndrome 23 어린선 ( 선천성비늘증 ) Congenital Ichthyosis 24 에드하임 - 체스터병 Erdheim-Chester disease 25 장림프관확장증 Intestinal lymphangiectasia 26 주버트증후군 Joubert syndrome 27 지텔만증후군 Gitelman Syndrome 28 카나반병 Canavan disease

2 29 카다실 Cadasil 30 큐라리노증후군 Currarino syndrome 31 크론카이드카나다증후군 Cronkhite-Canada syndrome, CCS 32 터프팅장증 tufting enteropathy (interstinal epithelial dyspalsia) 33 패리 - 롬버그병 Parry-Romberg disease (Progressive hemifacial atrophy) 34 표피박리각화과다증 ( 선천성수포성비늘모양홍색피부증 ) Epidermolytic hyperkeratosis (congenital bullous ichthyosiform erythroderma) 35 프레이저증후군 Fraser syndrome 36 헤이 - 웰스증후군 Hay-Wells syndrome (Ankyloblepharon-ectodermal defects) 37 알란 - 헌든 - 더들리증후군 Allan-Herndon-Dudley syndrome 38 월프 - 허쉬호른증후군 ( 울 4 번염색체단완결실증후군 ) Wolf-Hirschhorn syndrome 39 팰리스터 - 킬리언증후군 Pallister - killian syndrome 40 코헨증후군 Cohen Syndrome 41 진행성가족성간내담즙정체증 Progressive familial intrahepatic cholestasis 42 슈바크만 - 다이아몬드증후군 Schwachman-Diamond syndrome 43 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 44 선천성고인슐린혈증 Congenital hyperinsulinaemia 45 동형접합가족성고콜레스테롤혈증 Familial hypercholesterolemia homozygote 46 철불응성철결핍성빈혈 Iron-refractory iron deficiency anemia 47 하다드증후군 Haddad Syndrome 48 거짓부갑상선기능저하증 Pseudohypoparathyroidism 49 피어슨증후군 Pearson Syndrome 50 색소실조증 Incontinentia Pigmenti 51 3MC 증후군 3MC(Malpeuch, Maichels, Mingarelli, Carnevale) Syndrome 52 워커 - 워버그증후군 Walker-Warburg Syndrome 53 코핀시리스증후군 Coffin Siris Syndrome 54 소아성교대성편마비 Alternating Hemiplegia of Childhood 55 쉰젤기드온증후군 Schinzel Giedion Syndrome 56 모왓 - 윌슨증후군 Mowatt-Wilson Syndrome

3 57 선천성중추성무호흡증 Congenital Central Hypoventilation Syndrome 58 1 단완 36 미세결실증후군 1p36 Microdeletion Syndrome 59 아동기저수초형성운동실조 Childhood ataxia with central nervous system hypomyelination 60 근긴장이상을동반한고망간혈증 HypermanganesemiawithDystonia 장완 11 미세중복증후군 2q11 Microduplication Syndrome 10 장완말단삼염색체증후군 Distal 10q trisomy syndrome 15 장완 11.2 미세결실증후군 15q11.2 Microdeletion Syndrome 64 골드버그쉬프린첸증후군 Goldberg Sprintzen Syndrome 65 아이카디 - 구티에레스증후군 Aicardi-Goutieres Syndrome CARASILsyndrome 66 카라실증후군 (CerebralAutosomalRecessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) 67 선천성단장증후군 Congenital Short Bowel Syndrome 68 비정형마이코박테륨증, 가족형, X 연관 Atypical mycobacteriosis, familial, x-linked 69 항트롬빈결핍 Antithrombin deficiency 70 단백질 C 결핍 Protein C deficiency 71 단백질 S 결핍 Protein S deficiency 72 장병성말단피부염 Acrodermatitis enteropathica 73 알파 -1- 항트립신결핍 α-1-antitrypsin deficiency 74 선천성전신지방디스트로피 Congenital systemic lipodystrophy 75 일스병 Eales disease 76 동안실행증 ( 失行症 ), 코간형 Ocular motor apraxia, Cogan type 77 카테콜라민다형성심실성빈맥 Catecholaminergic polymorphic ventricular tachycardia 78 불완전상아질형성 Dentinogenesisimperfecta 79 선천성풍진증후군 Congenital rubella syndrome 80 활택뇌증 Lissencephaly 81 소뇌무발생 Cerebellar agenesis

4 82 렌즈소안구증후군 Lenz microphthalmia syndrome 83 X- 연관연소성망막분리 x-linked juvenile retinoschisis 84 와이번메이슨증후군 Wyburn Mason syndrome 85 메켈증후군 Meckel syndrome 86 쇄골두개골이골증 Cleidocranial dysostosis 87 골간단연골형성이상, 슈미드형 Metaphyseal chondrodysplasia, Schmid type 88 가성연골무형성형성이상 Pseudoachondroplastic dysplasia 89 층판비늘증 Lamellarichthyosis 90 ( 무한성 ) 외배엽형성이상 Ectodermaldysplasia(anhidrotic) 91 베크위트 - 비데만증후군 Beckwith-Wiedemann syndrome 단완삼염색체증 장완단일염색체증 94 8 장완 24.1 결실 ( 랑거 - 기드온증후군 ) Trisomy 10p 18q monosomy; (distal) 18q deletion syndrome Deletion 8q24.1 Langer Giedion syndrome (LGS); Trichorhinophalangeal syndrome type II (TRPS2) 95 COL4A1 관련증후군 COL4A1-related disorder 96 DYRK1A 결핍증후군 DYRK1A haploinsufficiency syndrome or DYRK1A-related intellectual disability syndrome 97 KBG 증후군 KBGsyndrome 98 Kleefstra 증후군 Kleefstra syndrome 99 Pelizaeus Merzbacher 질환 Pelizaeus Merzbacher disease 100 SOPH 증후군 Short stature with optic atrophy and Pelger-Huët anomaly (SOPH; MIM )) syndrome 101 가족성칸디다증 2 Candidiasis, familial, 2, autosomal recessive (CANDF2) 102 골린증후군 Gorlin syndrome 103 골츠증후군 Goltzs syndrome 104 랍슨멘덴홀증후군, 레프리코니즘 Rabson-Mendellhal syndrome, Leprechaunism 105 레버유전시신경병증 Leber`shereditaryopticneuropathy 106 로이에 - 디에츠증후군 Loeys-Dietz syndrome 107 로하드증후군 ROHHAD syndrorme 108 메이어 - 골린증후군 Meier-Gorlin syndrome 109 무홍채소뇌성운동실조정신박약증 Aniridia cerebellar ataxia mental deficiency

5 110 버트 - 호그 - 두베증후군 Birt-Hogg-Dubé Syndrome 111 볼프람증후군 Wolfram syndrome 112 봉입체근염 Inclusion body myositis 113 아이펙스증후군 IPEx syndrome 114 젤레오피직골이형성증 Geleophysic dysplasia 115 코핀 - 로우리증후군 Coffin-Lowry Syndrome 116 크라이요피린연관주기발열증후군 Cryopyrin associated periodic fever syndrome (CAPS) 117 특발성폐혈색소증 Idiopathic pulmonary hemosiderosis 118 폐림프관종증 Diffuse pulmonary lymphangiomatosis 119 포토키룹스키증후군 Potocki-lupski syndrome 120 플로우팅하버증후군 Floating harbor syndrome 121 피트홉킨스증후군 pitt hopkins syndrome (PTHS) 122 하쥬 - 체니증후군 Hadju-cheney syndrome 123 Vici 증후군 Vici Syndrome 124 가족성 ( 유전성 ) 췌장염 Hereditary pancreatitis 125 선천간섬유증 Congenital hepatic fibrosis 126 선천염소설사 ( 만성염소설사 ) Congenital chloride diarrhea (Chronic chloride diarrhea) 127 선천성지카증후군 Congenital Zika Syndrome 128 돌발운동유발이상운동 Paroxysmal Kinesigenic Dyskinesia, PKD 129 발작성운동실조증 2 형 Episodic ataxia type 안와림프관종 Orbital lymphangioma 131 만성진행성외안근마비 chronic progressive external ophthalmoplegia 단완 13 결실 (WAGR 증후군 ) 11p13 deletion (WAGR syndrome) 장완결실증후군 ( 야콥센증후군 ) 11q deletion syndrome (Jacobsen syndrome) 장완 13 미세결실증후군 (Mesomelia-synostoses 증후군 ) 8q13microdeletionsyndrome (Mesomelia-synostosessyndrome) 135 엠마누엘증후군 Emanuel syndrome

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untitled 대한피부과학회지 2009;47(4):463 467 증례 Bart 증후군 1 예 연세대학교의과대학피부과학교실및피부생물학연구소, 토마스제퍼슨대학교의과대학생물학연구소 1 이규엽ㆍ류동진ㆍ정혜진 1 ㆍ방동식 A Case of Bart s Syndrome Kyu-yeop Lee, M.D., Dong Jin Ryu, M.D., Hye Jin Chung, M.D. 1, Dongsik