新增罕見疾病名單

公告之罕見疾病分類序號彙總表 105/01/28 分類序號 中文病名 ( 僅供參考 ) 英文病名 ( 縮寫 ) ICD-9-CM ICD-10-CM A. 先天性代謝異常 A1 尿素循環代謝異常 Urea cycle disorders ( 高血氨症 ) A1 01 先天性尿素循環代謝障礙 Congenital Urea cycle disorders 270.6 E72.20 02 瓜胺酸血症 Citrullinemia 270.6 E72.23 03 乙醯榖胺酸合成酶缺乏症 Nitroacetylglutamate synthetase 270.6 E72.29,NAG synthetase 04 鳥胺酸氨甲醯基轉移酶缺乏 Ornithine transcarbamylase 270.6 E72.4 症 05 高鳥胺酸血症 - 高氨血症 - 高瓜胺酸血症症候群 Hyperornithinemia- Hyperammonemia- Homocitrullinuria Syndrome 附件 2 270.6 E72.4 A2 胺基酸 / 有機酸代謝異常 Amino acid metabolic disorders / Organic acidemias A2 01 胺基酸代謝疾病 Amino acid metabolic 270.9 E72.8 disorders(aminoacidopathies) 02 高胱胺酸血症 Homocystinuria 270.4 E72.11 03 高甲硫胺酸血症 Hypermethioninemia 270.4 E72.19 04 非酮性高甘胺酸血症 Nonketotic hyperglycinemia 270.7 E72.51 05 苯酮尿症 Phenylketouria 270.1 E70.0 06 四氫基喋呤缺乏症 Tetrahydrobiopterin 270.1 E70.1 07 遺傳性高酪胺酸血症 Hereditary tyrosinemia 270.2 E70.21 08 楓糖尿症 Maple syrup urine disease 270.3 E71.0 09 有機酸血症 Organic acidemias 270.9 E71.118 10 異戊酸血症 Isovaleric academia 270.3 E71.110 11 戊二酸尿症, 第一型 第二型 Glutaric aciduria type Ⅰ Ⅱ 270.9 typeⅠ: E72.3 typeⅡ: E71.313 12 丙酸血症 Propionic academia 270.3 E71.121 13 甲基丙二酸血症 Methylmalonic acidemia 270.3 E71.120 14 3- 氫基 -3- 甲基戊二酸血症 3-Hydroxy-3-methyl-glutaric 270.9 E71.118 acidemia 15 典型苯酮尿症合併蔗糖酶同 PAH type PKU combine with 271.3+ E74.31+E70.0 麥芽糖酶缺乏症 Sucrase-isomaltase 270.1 16 高離氨基酸血症 Hyperlysinemia 270.7 E72.3 17 組胺酸血症 Histidinemia 270.5 E70.41 18 三甲基巴豆醯輔酶 A 羧化酵 3-Methylcrotonyl-CoA 270.9 E71.19 素缺乏症 carboxylase 19 多發性羧化酶缺乏症 Multiple carboxylase 270.9 D81.819 20 高脯胺酸血症 Hyperprolinemia 270.8 E72.59 21 芳香族 L- 胺基酸類脫羧基酶 Aromatic L-amino acid 270.2 E70.9 缺乏症 decarboxylase 22 酪胺酸羥化酶缺乏症 Tyrosine hydroxylase 270.2 E70.20 A3 脂質儲積 A3 01 高雪氏症 Gaucher s disease 272.7 E75.22 02 GM1/GM2 神經節苷脂儲積症 GM1/GM2 gangliosidosis 330.1 GM1: E75.19 GM2: E75.00

03 Fabry 氏症 Fabry disease 272.7 E75.21 04 Niemann-Pick 氏症, 鞘髓磷脂儲積症 Niemann-Pick disease 272.7 type A: E75.240 type B: E75.241 type C: E75.242 type D: E75.243 other: E75.248 unspedified: E75.249 05 MLD 症候群 Metachromatic Leukodystrophy 330.0 E75.25 (MLD) 06 球細胞腦白質失養症 Globoid Cell Leukodystrophy 330.0 E75.23 07 嬰兒型溶酶體酸性脂肪酶缺乏症 ( 又稱伍爾曼氏症 ) (Krabbe s disease) Infantile form Lysosomal Acid Lipase Deficiency (Wolman Disease) 272.7 E75.5 A4 碳水化合物代謝異常 A4 01 半乳糖血症 Galactosemia 271.1 E74.21 02 肝醣儲積症 Glycogen storage disease 271.0 type 0: E74.09 typeⅠ: E74.01 type Ⅱ: E74.02 type Ⅲ: E74.03 type Ⅳ: E74.09 type Ⅴ: E74.04 type Ⅵ-Ⅸ: E74.09 Von Gierke's : E74.01 03 腦血管屏障葡萄糖輸送缺陷 Glut(Glucose Transport)1 syndrome 271.8 E74.8 A5 脂肪酸氧化異常 A5 01 脂肪酸氧化作用缺陷 Fatty acid oxidation defect 277.8 E71.30 E71.310 E71.311 E71.312 E71.313 E71.314 E71.318 E71.32 E71.39 02 原發性肉鹼缺乏症 Carnitine syndrome, 272.9 E71.41

primary 03 中鏈脂肪酸去氫酵素缺乏症 Medium-chain acyl-coenzyme A 277.8 E71.311 dehydrogenase (MCAD) 04 短鏈脂肪酸去氫酶缺乏症 Short-chain acyl-coa dehydrogenase 277.8 E71.312 A6 粒線體代謝異常 A6 01 粒線體缺陷 Mitochondrial defect 277.9 E88.40 02 Kearns-Sayre 氏症候群 Kearns-Sayre syndrome 277.8 H49.811 H49.812 H49.813 H49.819 03 Leigh 氏童年期腦脊髓病變 Leigh disease 330.8 G31.82 04 MELAS 症候群 MELAS 758.89 E88.41 05 MNGIE 症候群粒線體性神經 Mitochondrial 277.9 E88.89 胃腸腦病變症候群 Neurogastrointestinal Encephalopathy Syndrome 06 丙酮酸鹽脫氫酶缺乏症 Pyruvate dehydrogenase 271.8 E74.4 07 巴氏症候群 Barth Syndrome 759.89 E78.71 A7 溶小體代謝異常 A7 01 胱胺酸血症 Cystinosis 270.0 E72.04 02 黏多醣症 Mucopolysaccharidoses 277.5 E76.3 03 岩藻糖代謝異常 ( 儲積症 ) Fucosidosis 271.8 E77.1 04 涎酸酵素缺乏症 Sialidosis 272.7 E77.1 05 黏脂質症 Mucolipidosis 272.7 typeⅠ: E77.1 type Ⅱ Ⅲ:E77.0 type Ⅳ: E75.11 06 神經元蠟樣脂褐質儲積症 Neuronal ceroid lipofuscinosis 330.1 E75.4 A8 膽固醇及脂質代謝異常 Cholesterol and Lipid metabolism A8 01 同合子家族性高膽固醇血症 Homozygous familial hypercholesterolemia 272.0 E78.0 02 家族性高乳糜微粒血症 Familial Hyperchylomicronemia 272.3 E78.3 03 豆固醇血症 植物性 Sitosterolemia 272.0 E78.0 A9 礦物離子缺陷 A9 01 威爾森氏症 Wilson s disease 275.1 E83.01 02 Menkes 症候群 Menkes syndrome 759.89 E83.09 03 鉬輔酶缺乏症 Molybdenum cofactor 277.8 E61.5 A10 過氧化體代謝異常 A10 01 Zellweger 氏症候群 Zellweger syndrome 277.9 E71.510 02 腎上腺腦白質失養症 Adrenoleukodystrophy 272.7 E71.511 E71.520 E71.521 E71.528 E71.529 03 肢近端型點狀軟骨發育不良 Rhizomelic Chondrodysplasia Punctata A11 其他代謝異常 277.8 E71.540

A11 01 紫質症 Porphyria 277.1 E80.20 E80.21 E80.29 02 Lesch-Nyhan 氏症候群 Lesch-Nyhan syndrome 277.2 E79.1 03 亞硫酸鹽氧化酶缺乏 Sulfite oxidase 270.0 E72.19 04 碳水化合缺乏醣蛋白症候群 Carbohydrate- 277.9 E77.8 glycoprotein syndrome 05 臭魚症 Trimethylaminuria 277.8 E72.52 06 先天性全身脂質營養不良症 Congenital generalized 272.6 E88.1 lipodystrophy 07 腦腱性黃瘤症 Cerebrotendinous Xanthomatosis 272.7 E75.5 08 低磷酸酯酶症 Hypophosphatasia 275.3 E83.39 E83.31 09 Beta 硫解酶缺乏症 Beta-Ketothiolase Deficiency 270.3 E71.19 B 腦部或神經系統病變 B1 01 多發性硬化症 Multiple sclerosis 340 G35 02 肌萎縮性側索硬化症 Amyotrophic lateral sclerosis 335.20 G12.21 (ALS) 03 共濟失調微血管擴張症候群 Ataxia telangiectasia 334.8 G11.3 04 亨丁頓氏舞蹈症 Huntington disease( 又稱 333.4 G10 Huntington's chorea) 05 瑞特氏症候群 Rett syndrome 330.8 F84.2 06 脊髓性肌肉萎縮症 Spinal muscular atrophy 335.10 G12.9 07 脊髓小腦退化性動作協調障 Spinocerebellar ataxia 334.3 G11.1 礙 08 結節性硬化症 Tuberous sclerosis 759.5 Q85.1 09 先天性痛不敏感症合併無汗 Congenital insensitivity to pain 705.0 L74.4 症 with anhidrosis(cipa) 10 神經纖維瘤症候群第二型 Neurofibromatosis type Ⅱ 237.72 Q85.02 11 Alexander 氏病 Alexander disease 331.89 E75.29 12 僵體症候群 Stiffperson syndrome 333.91 G25.82 13 遺傳性痙攣性下身麻痺 Hereditary spastic paraplegia 334.1 G11.4 14 Joubert 氏症候群 ( 家族性小 Joubert syndrome 759.89 Q04.3 腦蚓部發育不全 ) 15 Pelizaeus-Merzbacher 氏症 Pelizaeus-Merzbacher Disease 330.0 E75.29 ( 慢性兒童型腦硬化症 ) 16 Charcot Maire Tooth 氏症 ( 進 Charcot Marie Tooth Disease 356.1 G60.0 行性神經性腓骨萎縮症 ) 17 甘迺迪氏症 ( 脊髓延髓性肌肉萎縮症 ) Kennedy Disease 335.8 G12.20 G12.21 G12.22 G12.29 Familial Amyloidotic 277.3+ E85.1 18 家族性澱粉樣多發性神經病 變 Polyneuropathy 357.4 19 Moebius 症候群 Moebius syndrome 352.6 Q87.0 20 Mcleod 症候群 Mcleod syndrome 758.81 J43.0 21 Aicardi-Goutieres 症候群 Aicardi-Goutieres syndrome 330.0 G31.89 22 普洛提斯症候群 Proteus Syndrome 759.89 Q87.3 23 MECP2 綜合症候群 Methyl CpG binding protein 2 Duplication Syndrome(MECP2 Duplication Syndrome) 330.8 Q99.8

24 腦肋小頜症候群 Cerebro-Costo-Mandibular 759.89 Syndrome Q87.89 C 呼吸循環系統病變 C1 01 特發性嬰兒動脈硬化症 Idiopathic Infantile Arterial 747.89 Q28.8 Calcification 02 囊狀纖維化症 Cystic fibrosis 277.00 E84.9 03 原發性肺動脈高壓 Primary Pulmonary Hypertension 416.0 I27.0 (PPH) 04 Holt-Oram 氏症候群 Holt-Oram Syndrome 759.89 Q87.2 05 Andersen 氏症候群 ( 心節律 Andersen syndrome 359.3+ E74.09 障礙暨週期性麻痺症候群 ; 鉀離子通道病變 ) 426.89 06 遺傳性出血性血管擴張症 Hereditary Hemorrhagic 448.0 I78.0 Telangiectasia 07 窒息性胸腔失養症 Asphyxiating thoracic dystrophy 756.4 Q77.2 08 先天性中樞性換氣不足症候群 Congenital Central Hypoventilation Syndrome 327.25 G47.35 D 消化系統病變 D1 01 進行性家族性肝內膽汁滯留 Progressive intrahepatic 751.69 K83.1 症 cholestasis,pfic 02 先天性膽酸合成障礙 Inborn errors of bile acid 277.9 E78.70 synthesis 03 α1- 抗胰蛋白酶缺乏症 α1- Antitrypsin 277.6 E88.01 04 先天性 Cajal 氏間質細胞增生 Congenital Interstitial Cell of 750.5 Q43.8 合併腸道神經元發育異常 Cajal Hyperplasia with Neuronal Intestinal Dysplasia 05 阿拉吉歐症候群 Alagille Syndrome 759.89 Q44.7 E 腎臟泌尿系統病變 E1 01 Lowe 氏症候群 Lowe syndrome 270.8 E72.03 02 Bartter 氏症候群 Bartter s syndrome 255.1 E26.81 03 體染色體隱性多囊性腎臟疾病 Autosomal recessive polycystic kidney disease 753.14 Q61.19 F 皮膚病變 F1 01 遺傳性表皮分解性水泡症 Hereditary epidermolysis bullosa 757.39 Q81.9 02 層狀魚鱗癬 ( 自體隱性遺傳 Lchthyosis, lamellar recessive 757.1 Q80.2 型 ) 03 膠膜兒 Collodion baby 757.1 Q80.2 04 斑色魚鱗癬 Harlequin ichthyosis 757.1 Q80.4 05 水泡型先天性魚鱗癬樣紅皮症 ( 表皮鬆解性角化過度症 ) Bullous Congenital ichthyosiform erythoderma(epidermolytic hyperkeratosis) 757.1 Q80.3 06 外胚層增生不良症 Ectodermal Dysplasias 757.31 Q82.4 07 Meleda 島病 Meleda disease 757.39 Q82.8 08 Darier 氏症 ( 毛囊角化病 ) Darier s disease 757.39 Q82.8 09 先天性角化不全症 Dyskeratosis Congenita 757.39 Q82.8 10 皮膚過度角化症雅司病 Diffuse Non-epidermolytic Palmoplantar Keratoderma type Unna-Thost 757.39 Q82.8 11 色素失調症 Incontinentia Pigmenti 757.33 Q82.3 12 Netherton 症候群 Netherton Syndrome 757.1 Q80.3 G 肌肉病變

G1 01 裘馨氏肌肉失養症 Duchenne muscular dystrophy 359.1 G71.0 02 Nemaline 線狀肌肉病變 Nemaline Rod Myopathy 359.0 G71.2 03 Schwartz Jampel 氏症候群 Schwartz Jampel syndrome 756.89 G71.13 04 肌肉強直症 Myotonic dystrophy 359.2 G71.11 05 面肩胛肱肌失養症 Facioscapulohumeral muscular 359.1 G71.0 dystrophy 06 肌小管病變 Myotubular Myopathy 359.0 G71.2 07 貝克型肌肉失養症 Becker Muscular Dystrophy 359.1 G71.0 08 Freeman-Sheldon 氏症候群 Freeman-Sheldon syndrome 759.89 Q87.0 09 肢帶型肌失養症 Limb-girdle muscular dystrophy 359.1 G71.0 10 先天性肌失養症 Congenital Muscular Dystrophy 359.0 G71.0 H 骨及軟骨病變 H1 01 軟骨發育不全症 Achondroplasia 756.4 Q77.4 02 成骨不全症 Osteogenesis imperfecta 756.51 Q78.0 03 原發性變形性骨炎 Primary Paget disease 731.0 M88.0 M88.1 M88.811 M88.812 M88.819 M88.821 M88.822 M88.829 M88.831 M88.832 M88.839 M88.841 M88.842 M88.849 M88.851 M88.852 M88.859 M88.861 M88.862 M88.869 M88.871 M88.872 M88.879 M88.88 M88.89 M88.9 04 鎖骨顱骨發育異常 Cleidocraninal dysplasia 755.59 Q74.0 05 進行性骨化性肌炎 Fibrodysplasia Ossificans Progressiva 728.11 M61.10 M61.111 M61.112 M61.119 M61.121 M61.122 M61.129 M61.131 M61.132 M61.139 M61.141

M61.142 M61.143 M61.144 M61.145 M61.146 M61.151 M61.152 M61.159 M61.161 M61.162 M61.169 M61.171 M61.172 M61.173 M61.174 M61.175 M61.176 M61.177 M61.178 M61.179 M61.18 M61.19 06 裂手裂足症 Split-hand/ Split-foot malformation(shfm) hand755.58 foot755.67 Q71.60 Q71.61 Q71.62 Q71.63 Q72.70 Q72.71 Q72.72 Q72.73 07 骨質石化症 Osteopetrosis 756.52 Q78.2 08 假性軟骨發育不全 Pseudoachondroplastic dysplasia 756.4 Q77.8 09 多發性骨骺發育不全症 Multiple Epiphyseal Dysplasia 756.56 Q78.3 I 結締組織病變 I1 01 先天結締組織異常第四型 Ehlers Danlos syndrome Ⅳ 756.83 Q79.6 J 血液疾病 J1 01 重型海洋性貧血 Thalassemia major 282.4 D56.0 D56.1 02 血小板無力症 Thrombasthenia 287.1 D69.1 03 同基因合子蛋白質 C 缺乏症 Homozygous proetin C 04 陣發性夜間血紅素尿症 Paroxysmal Nocturnal Hemoglobinuria 05 非典型性尿毒溶血症候群 Atypical Hemolytic Uremic Syndrome K 免疫疾病 K1 01 原發性慢性肉芽腫病 Chronic primary granulomatous disease 273.3 D68.59 283.2 D59.5 283.11 D59.3 288.1 D71 02 先天性高免疫球蛋白 E 症候 Congenital Hyper IgE syndrome 288.1 D82.4 群 03 布魯頓氏低免疫球蛋白血症 Bruton s agammaglobulinemia 279.04 D80.0 04 Wiskott- Aldrich 氏症候群 Wiskott- Aldrich Syndrome 279.12 D82.0

05 嚴重複合型免疫缺乏症 Severe combined immuno 279.2 D81.0 D81.1 D81.2 D81.9 06 補體成份 8 缺乏症 Complement Component 8 279.8 D84.1 07 IPEX 症候群 IPEX Syndrome 759.89 E31.0 (279.8, 569.89, 259.8, 758.89) 08 高免疫球蛋白 M 症候群 Hyper-IgM syndrome 279.05 D80.5 09 γ 干擾素受體 1 缺陷 Interferon γ receptor 1 279.4 D84.8 L 內分泌疾病 L1 01 Kenny-Caffey 氏症候群 Kenny-Caffey syndrome 759.89 Q87.1 02 假性副甲狀腺低能症 Pseudohypoparathyroidism 275.49 E20.1 03 性連遺傳型低磷酸鹽佝僂症 X-linked hypophosphatemic 275.3 E83.31 rickets 04 Laron 氏侏儒症候群 Laron syndrome(laron 259.4 E34.3 Dwarfism) 05 Bardet-Biedl 氏症候群 Bardet-Biedl syndrome 759.89 Q87.89 06 Alstrom 氏症候群 Alsrtom Syndrome 759.2 Q87.89 07 持續性幼兒型胰島素過度分 Persistent hyperinsulinemic 251.1 E16.1 泌低血糖症 hypoglycemia of infancy (PHHI) 08 Wolfram 氏症候群 Wolfram syndrome,didmoad 277.9 E88.9 09 McCune Albright 氏症候群 McCune Albright syndrome 756.59 Q78.1 10 短指發育不良及性別顛倒 Campomelic dysplasia with 758.89 Q99.8 autosomal sex reversal 11 腎上腺皮促素抗性 ACTH resistance 253.4 E27.49 12 1α- 羥化酶缺乏症候群 1α-hydroxylase 268.0 E25.0 13 先天性腎上腺發育不全 Congenital adrenal hypoplasia 759.1 Q89.1 14 Kallmann 氏症候群 Kallmann syndrome 253.4 E23.0 15 永久性新生兒糖尿病 Permanent Neonatal Diabetes Mellitus 775.1 P70.2 M 先天畸形症候群 M1 01 Aarskog-Scott 氏症候群 Aarskog-Scott syndrome 759.89 Q87.1 02 瓦登伯格氏症候群 Waardenburg syndrome 270.2 E70.8 03 愛伯特氏症 Apert syndrome 755.55 Q87.0 04 Smith-Lemli-Opitz 氏症候群 Smith-Lemli-Opitz syndrome 759.89 E78.72 05 Larsen 氏症候群 ( 顎裂 - 先天 Larsen syndrome 755.8 Q74.8 性脫位症候群 ) 06 Beckwith Wiedemann 氏症候 Beckwith Wiedemann syndrome 759.89 Q87.3 群 07 Crouzon 氏症候群 Crouzon syndrome 756.0 Q75.1 08 Fraser 氏症候群 Fraser syndrome 759.89 Q87.0 09 多發性翼狀膜症候群 Multiple pterygium syndrome 759.89 Q79.8 10 Cornelia de Lange 氏症候群 Cornelia de Lange syndrome 759.89 Q87.1 11 海勒曼 - 史德萊夫氏症候群 Hallerman-Streiff Syndrome 756.0 Q87.0 12 歌舞伎症候群 Kabuki syndrome 759.89 Q89.8 13 耳 - 齶 - 指 ( 趾 ) 症候群 Oto-Palato-Digital syndrome 759.89 Q87.0 14 Conradi-Hunermann 氏症候群 Conradi-Hunermann syndrome 756.59 Q77.3

15 Treacher Collins 氏症候群 Treacher Collins Syndrome 756.0 Q75.4 16 Robinow 氏症候群 Robinow Syndrome 759.89 Q87.1 17 Pfeiffer 氏症候群 Pfeiffer syndrome 755.55 Q87.0 18 泛酸鹽激酶關聯之神經退化 Pantothenate Kinase Associated 277.9 G23.0 性疾病 Neurodegeneration(PKAN) 19 指 ( 趾 ) 甲髕骨症候群 Nail-Patella Syndrome 756.89 Q87.2 20 CFC 症候群 Cardiofaciocutaneous Syndrome 759.89 Q87.89 21 Peters-Plus 症候群 Peters-Plus syndrome 743.44 Q13.4 22 Nager 症候群 Nager Syndrome 756.0 Q75.4 23 CHARGE 症候群 CHARGE Syndrome 759.89 Q89.8 N 染色體異常 N1 01 Angelman 氏症候群 Angelman syndrome 759.89 Q93.5 02 DiGeorge s 症候群 DiGeorge s syndrome 279.11 D82.1 03 Prader-Willi 氏症候群 Prader-Willi syndrome 759.81 Q87.1 04 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 ) W A G R syndrome(wilms tumor-aniridia-genitourinary Anomalies-mental Retardation) 759.89 Q87.89 05 Miller Dieker 症候群 Miller Dieker syndrome 742.2 Q93.88 06 Rubinstein-Taybi 氏症候群 Rubinstein-Taybi syndrome 759.89 Q87.2 07 威廉斯氏症候群 Williams Syndrome 759.89 Q93.89 08 Von Hippel Lindau 症候群 Von Hippel Lindau disease 759.6 Q85.8 09 Branchio-Oto-Renal 症候群 (BOR 症候群 ) Branchio-Oto-Renal Syndrome (BOR Syndrome) 759.89 Q87.89 Z 其他未分類或不明原因 Z1 01 Cockayne 氏症候群 Cockayne syndrome 759.89 Q87.1 02 早老症 Hutchinson Gilford progeria syndrome 259.8 E34.8 03 髮 - 肝 - 腸症候群 Tricho-hepato-enteric syndrome 759.7 Q89.7 04 Stargardt s 氏症 Stargardt s disease 362.75 H35.50 05 隱匿性黃斑部失養症 Occult Macular Dystrophy ;OMD 362.76 H35.50 灰色底列疾病為 105/01/28 公告