44.下列何者非屬國內公告之罕見疾病？
(A) 伊波拉病毒感染
(B) 亨丁頓氏舞蹈症
(C) 原發性肺動脈高壓
(D) 半乳糖血症

答案：登入後查看
統計： A(3677), B(78), C(697), D(151), E(0) #882621

詳解 (共 6 筆)

#2905514

罕見疾病:以疾病的遺傳性、罕見性、治療困難性作為認定罕見疾病的指標。

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#2309591

常識判斷...（A）感染症

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#2884132

罕見疾病

罕見疾病之年盛行率標準為萬分之一以下。

◆ 罕見疾病簡介 ◆

序號疾病名稱中文翻譯（中文翻譯僅供參考）ICD-9-CM 編碼俗名
01  Urea cycle disorders尿素循環代謝障礙270.6 
 01 Citrullinemia瓜胺酸血症270.6 
02  Amino acid metabolic disorders (又稱Aminoacidopathies)胺基酸代謝疾病270.9 
 01 Homocystinuria高胱胺酸尿症270.4 
  1Hypermethioninemia高甲硫胺酸血症270.4 
 02 Cystinosis胱胺酸症270.0 
 03 Nonketotic hyperglycinemia非酮性高甘胺酸血症270.7 
 04 Phenylketonuria苯酮尿症270.1 
 05 Tetrahydrobiopterin deficiency四氫基喋呤缺乏症270.1 
 06 Hereditary tyrosinemia遺傳性高酪胺酸血症270.2 
 07 Maple syrup urine disease楓糖尿症270.3 
03  Hereditary coproporphyria遺傳性紫質症277.1 
04  Multiple sclerosis多發性硬化症340 
05  Gaucher's disease高雪氏症272.7 
06  Wilson's disease威爾森氏症275.1 
07  Nesidioblastosis胰島母細胞瘤211.7 
08  Amyotrophic lateral sclerosis (ALS)肌萎縮性側索硬化症335.20 
09  Organic acidemias有機酸血症270.9 
 01 Isovaleric acidemia異戊酸血症270.3 
 02 Glutaric aciduria type I, II戊二酸血症，第一、二型270.9 
 03 Propionic acidemia丙酸血症270.3 
 04 Methylmalonic acidemia甲基丙二酸血症270.3 
 05 3-Hydroxy-3-methyl-glutaric acidemia3-羥基-3-甲基戊二酸血症270.9 
10  Galactosemia半乳糖血症271.1 
11  Fatty acid oxidation defect脂肪酸氧化作用缺陷272.9 
 01 Carnitine deficiency syndrome, primary原發性肉鹼缺乏症272.9 
12  Mitochondrial defect粒線體缺陷277.9 
 01 Kearns-Sayre syndromeKearns-Sayre氏症候群277.9 
 02 Leigh diseaseLeigh氏童年期腦脊髓病變330.8 
 03 MELASMELAS症候群758.89 
 04 Mitochondrial Neurogastrointestinal Encephalopathy SyndromeMNGIE症候群
粒線體性神經胃腸腦病變症候群		277.9
13  Aarskog-Scott syndromeAarskog-Scott氏症候群759.89 
14  Achondroplasia軟骨發育不全症756.4小小人兒
15  Angelman syndromeAngelman氏症候群759.89 
16  Ataxia telangiectasia共濟失調微血管擴張症候群334.8 
17  Cockayne syndromeCockayne 氏症候群759.89 
18  Duchenne muscular dystrophy裘馨氏肌肉失養症359.1 
19  Glycogen storage disease肝醣儲積症271.0 
20  GM1/GM2 gangliosidosisGM1/GM2神經節脂儲積症330.1 
21  Hereditary epidermolysis bullosa遺傳性表皮分解性水皰症757.39泡泡龍
22  Huntington disease （又稱Huntington's chorea)亨汀頓氏舞蹈症333.4 
23  Hutchinson Gilford progeria syndrome早老症259.8 
24  Ichthyosis, lamellar recessive層狀魚鱗癬 （自體隱性遺傳型）757.1 
25  Kenny-Caffey syndromeKenny-Caffey氏症候群759.89 
26  Lesch-Nyhan syndromeLesch-Nyhan氏症候群277.2 
27  Lowe syndromeLowe氏症候群270.8 
28  Mucopolysaccharidoses黏多醣症277.5黏寶寶
29  Osteogenesis imperfecta成骨不全症756.51玻璃娃娃
30  Pseudohypoparathyroidism假性副甲狀腺低能症275.49 
31  Rett syndrome瑞特氏症候群330.8 
32  Spinal muscular atrophy脊髓性肌肉萎縮症335.10 
33  Spinocerebellar ataxia脊髓小腦性共濟失調334.3 
34  Sulfite oxidase deficiency亞硫酸鹽氧化酉每缺乏270.0 
35  Thalassemia major重型海洋性貧血282.4 
36  Tuberous sclerosis結節性硬化症759.5 
37  Waardenburg syndrome瓦登伯格氏症候群270.2藍眼珠
38  X-linked hypophosphatemic rickets性連遺傳型低磷酸鹽性佝僂症275.3 
39  Zellweger syndromeZellweger氏症候群277.9 
40  Progressive intrahepatic cholestasis，PFIC進行性家族性肝內膽汁滯流症751.69 
41  Inborn errors of bile acid synthesis先天性膽酸合成障礙277.9 
42  Primary Paget disease原發性變形性骨炎731.0 
0102 Nitroacetylglutamate synthetase deficiency NAG synthetase deficiency乙醯榖胺酸合成酉每缺乏症270.6 
 03 Omithine transcarbamylase deficiencyy鳥胺酸氨甲醯基轉移酉每缺乏症270.6 
43  Apert syndrome愛伯特氏症755.55 
44  Cleidocranial dysplasia鎖骨顱骨發育異常755.59 
45  DiGeorge’s syndromeDiGeorge’s症候群279.11 
46  Homozygous familial hypercholesterolemia同合子家族性高膽固醇血症272.0 
47  Fucosidosis岩藻糖代謝異常（儲積症）271.8 
48  PAH type PKU combine with Sucrase-isomaltase deficiency典型苯酮尿症合併蔗糖酉每同麥芽糖酉每缺乏症271.3+270.1 
49  Nemaline Rod MyopathyNemaline線狀肌肉病變359.0 
50  Fibrodysplasia Ossificans Progressiva進行性骨化性肌炎728.11 
51  Menkes syndromeMenkes氏症候群759.89 
52  Fabry diseaseFabry 氏症272.7 
53  Prader-Willi syndromePrader-Willi氏症候群759.81好吃寶寶
54  Niemann-Pick diseaseNiemann-Pick氏症，鞘髓磷脂儲積症272.7 
55  Tricho-hepato-enteric syndrome髮-肝-腸症候群759.7 
56  Collodion baby膠膜兒757.1 
57  Harlequin ichthyosis斑色魚鱗癬757.1 
58  Bullous Congenital ichthyosiform erythoderma（epidermolytic hyperkeratosis）水泡型先天性魚鱗癬樣紅皮症（表皮鬆解性角化過度症）757.1 
59  Laron syndrome（Laron Dwarfism）Laron氏侏儒症候群259.4 
60  Smith-Lemli-Opitz syndromeSmith-Lemli-Opitz 氏症候群759.89 
61  Bardet-Biedl syndromeBardet-Biedl氏症候群759.89 
62  Larsen syndromeLarsen氏症候群（顎裂-先天性脫位症候群）755.8 
63  Sialidosis涎酸酵素缺乏症272.7 
64  Alstrom SyndromeAlstrom氏症候群759.2 
65  Chronic primary granulomatous disease原發性慢性肉芽腫病288.1 
66  Persistent hyperinsulinemic hypoglycemia of infancy（PHHI）持續性幼兒型胰島素過度分泌低血糖症251.1 
67  Familial hyperchylomicronemia家族性高乳糜微粒血症272.3 
68  W A G R syndrome（Wilms’ tumor-Aniridia-Genitourinary Anomalies-mental Retardation）威爾姆氏腫瘤、無虹膜、性器異常、智能障礙症候群（W A G R症候群）759.89 
69  Ectodermal Dysplasias外胚層增生不良症757.31 
70  Beckwith Wiedemann syndromeBeckwith Wiedemann氏症候群759.89 
71  Congenital insensitivity to pain with anhidrosis（CIPA）先天性痛不敏感症合併無汗症705.0 
72  Wolfram syndrome，DIDMOADWolfram氏症候群277.9 
73  Adrenoleukodystrophy腎上腺腦白質失養症272.7 
74  McCune Albright syndromeMcCune Albright氏症候群756.59 
75  Crouzon syndromeCrouzon氏症候群756.0 
76  Thrombasthenia血小板無力症287.1 
77  Schwartz Jampel syndromeSchwartz Jampel氏症候群756.89 
78  Fraser syndromeFraser氏症候群759.89 
79  Mucolipidosis黏脂質症272.7 
80  Ehlers Danlos syndrome Ⅳ先天結締組織異常第四型756.83 
81  Myotonic dystrophy肌肉強直症359.2 
82  Congenital Hyper IgE syndrome先天性高免疫球蛋白E症候群279.9 
83  Tyrosinemial Ⅰ、Ⅱ、Ⅲ穌胺基酸症第一型、第二型、第三型270.2 
84  Hyperlysinemia高離氨基酸血症270.7 
85  Histidinemia組胺酸血症270.5 
86  3-Methylcrotonyl-CoA carboxylase deficiency三甲基巴豆醯輔酉每A梭化酵素缺乏症270.9 
87  Multiple carboxylase deficiency多發性梭化酉每缺乏症270.9 
88  Split-hand/ Split-foot malformation（SHFM）裂手裂足症Hand：755.58
Foot：755.67		 
89  Metachromatic Leukodystrophy（MLD）MLD症候群330.0 
90  Campomelic dysplasia with autosomal sex reversal短指發育不良及性別顛倒758.89 
91  Osteopetrosis骨質石化症756.52 
92  Carbohydrate-deficiency glycoprotein syndrome碳水化合缺乏醣蛋白症候群277.9 
93  Trimethylaminuria臭魚症277.8 
94  Congenital generalized lipodystrophy先天性全身脂質營養不良症272.6 
95  Multiple pterygium syndrome多發性翼狀膜症候群759.89 
96  Idiopathic Infantile Arterial Calcification特發性嬰兒動脈硬化症747.89 
97  Miller Dieker syndromeMiller Dieker 症候群742.2 
98  Medium-chain acyl-coenzyme A dehydrogenase deficiency（MCAD）中鏈脂肪酸去氫酵素缺乏症277.8 
99  Hyperprolinemia高脯胺酸血症270.8 
100  Cystic fibrosis囊狀纖維化症277.00 


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#1243599
http://sp1.hso.mohw....
(共 80 字，隱藏中）
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#4430180

衛生福利部中央健康保險署-罕見疾病

衛生福利部公告罕見疾病名單暨ICD-10-CM編碼一覽表(109.10.13公告修正)

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#6497152
補充 盛行率萬分之一以下是罕見疾...
(共 265 字，隱藏中）
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