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1 二百零五項罕見疾病 ICD-9-CM 診斷代碼修正案總說明現行公告罕見疾病共二百零七項, 其中二百零五項疾病代碼係依 ICD-9-CM 編碼 ; 因應衛生福利部中央健康保險署公告全民健康保險特約醫院自一百零五年一月一日起, 門住診診斷及處置代碼全面單軌申報二零一四年版 ICD-10-CM/PCS 為周延罕見疾病之 ICD-10-CM 疾病編碼, 爰擬具罕見疾病 ICD-9-CM 診斷代碼修正案, 並自一百零五年一月一日生效 1

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3 分類序號 205 項罕見疾病 ICD-9-CM 診斷代碼修正案對照表中文病名 ( 僅供參考 ) 英文病名 ( 縮寫 ) A. 先天性代謝異常 A1 尿素循環代謝異常 Urea cycle disorders ( 高血氨症 ) 修正名稱 ICD-10-CM 診斷代碼現行名稱 ICD-9-C M 診斷代碼 A1 01 先天性尿素循環代謝障礙 Congenit al Urea cycle disorders E 瓜胺酸血症 Citrullinemia E 乙醯榖胺酸合成酶缺乏症 Nitroacetylglutamate synthetase deficiency,nag synthetase deficiency 04 鳥胺酸氨甲醯基轉移酶缺乏症 Ornithine transcarbamylase deficiency E E 高鳥胺酸血症 - 高氨血症 - 高瓜胺酸血症症候 Hyperornithinemia-Hyperammone mia-homocitrullinuria Syndrome E 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 disorders(aminoacidopathies) E 高胱胺酸血症 Homocystinuria E 高甲硫胺酸血症 Hypermethioninemia E 非酮性高甘胺酸血症 Nonketotic hyperglycinemia E 苯酮尿症 Phenylketouria E 四氫基喋呤缺乏症 Tetrahydrobiopterin deficiency E 遺傳性高酪胺酸血症 Hereditary tyrosinemia E 楓糖尿症 Maple syrup urine disease E 有機酸血症 Organic acidemias E 異戊酸血症 Isovaleric academia E

4 11 戊二酸尿症, 第一型第二型 Glutaric aciduria type Ⅰ Ⅱ type I:E72.3 type11:e 丙酸血症 Propionic academia E 甲基丙二酸血症 Methylmalonic acidemia E 氫基 -3- 甲基戊二酸血症 3-Hydroxy-3-methyl-glutaric acidemia 15 典型苯酮尿症合併蔗糖酶同麥芽糖酶缺乏症 E PAH type PKU combine with Sucrase-isomaltase deficiency E74.31+E 高離氨基酸血症 Hyperlysinemia E 組胺酸血症 Histidinemia E 三甲基巴豆醯輔酶 A 羧化酵素缺乏症 19 多發性羧化酶缺乏症 3-Methylcrotonyl-CoA carboxylase deficiency Multiple carboxylase deficiency E D 高脯胺酸血症 Hyperprolinemia E 芳香族 L- 胺基酸類脫羧基酶缺乏症 22 酪胺酸羥化酶缺乏症 A3 脂質儲積 Aromatic L-amino acid decarboxylase deficiency Tyrosine hydroxylase deficiency E E A3 01 高雪氏症 Gaucher s disease E GM1/GM2 神經節苷脂儲積症 GM1/GM2 gangliosidosis GM1:E75.19 GM2: E Fabry 氏症 Fabry disease E Niemann-Pick 氏症, 鞘髓磷脂儲積症 Niemann-Pick disease E75.240:Type A E75.241:Type B E75.242:Type C E75.243:Type D E75.248:other E75.249:unspecif ied MLD 症候 06 球細胞腦白質失養症 Metachromatic Leukodystrophy (MLD) Globoid Cell Leukodystrophy (Krabbe s disease) E E A4 碳水化合物代謝異常 A4 01 半乳糖血症 Galactosemia E

5 02 肝醣儲積症 Glycogen storage disease 03 腦血管屏障葡萄糖輸送缺陷 A5 脂肪酸氧化異常 Glut ( Glucose Transport ) 1 deficiency syndrome 01 脂肪酸氧化作用缺陷 Fatty acid oxidation defect 02 原發性肉鹼缺乏症 03 中鏈脂肪酸去氫酵素缺乏症 04 短鏈脂肪酸去氫酶缺乏症 A6 粒線體代謝異常 E74.09:type 0 E74.01:Type I E74.02:type II E74.03:type III E74.09:type IV E74.04:type V E74.09:type VI-XI E74.01:Von Gierke's E E71.30 E E E E E E E71.32 E Carnitine deficiency syndrome, primary E Medium-chain acyl-coenzyme A dehydrogenase deficiency E (MCAD) Short-chain acyl-coa dehydrogenase deficiency E A6 01 粒線體缺陷 Mitochondrial defect E Kearns-Sayre 氏症候 Kearns-Sayre syndrome 03 Leigh 氏童年期腦脊髓病變 H H H H Leigh disease G MELAS 症候 MELAS E MNGIE 症候粒線體性神經胃腸腦病變症候 06 丙酮酸鹽脫氫酶缺乏症 Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Pyruvate dehydrogenase deficiency E E 巴氏症候 Barth Syndrome E A7 溶小體代謝異常 A7 01 胱胺酸血症 Cystinosis E

6 02 黏多醣症 Mucopolysaccharidoses E 岩藻糖代謝異常 ( 儲積症 ) Fucosidosis E 涎酸酵素缺乏症 Sialidosis E 黏脂質症 Mucolipidosis type I:E77.1 type II III:E77.0 type IV:E 神經元蠟樣脂褐質儲積症 Neuronal ceroid lipofuscinosis E 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 E 家族性高乳糜微粒血症 Familial Hyperchylomicronemia E 豆固醇血症植物性 Sitosterolemia E A9 礦物離子缺陷 A9 01 威爾森氏症 Wilson s disease E Menkes 症候 Menkes syndrome E 鉬輔酶缺乏症 Molybdenum cofactor deficiency E A10 過氧化體代謝異常 A10 01 Zellweger 氏症候 Zellweger syndrome E 腎上腺腦白質失養症 Adrenoleukodystrophy E E E E E 肢近端型點狀軟骨發育不良 Rhizomelic Chondrodysplasia Punctata E A11 其他代謝異常 01 紫質症 Porphyria E80.20 E80.21 E Lesch-Nyhan 氏症候 Lesch-Nyhan syndrome E 亞硫酸鹽氧化酶缺乏 Sulfite oxidase deficiency E 碳水化合缺乏醣蛋白症候 Carbohydrate-deficiency glycoprotein syndrome E

7 05 臭魚症 Trimethylaminuria E 先天性全身脂質營養不良症 Congenital generalized lipodystrophy E 腦腱性黃瘤症 Cerebrotendinous Xanthomatosis E 低磷酸酯酶症 Hypophosphatasia E83.39 E Beta 硫解酶缺乏症 Beta-Ketothiolase Deficiency E B 腦部或神經系統病變 B1 01 多發性硬化症 Multiple sclerosis G 肌萎縮性側索硬化症 03 共濟失調微血管擴張症候 Amyotrophic lateral sclerosis (ALS) G Ataxia telangiectasia G 亨丁頓氏舞蹈症 Huntington disease( 又稱 Huntington's chorea) G 瑞特氏症候 Rett syndrome F 脊髓性肌肉萎縮症 Spinal muscular atrophy G 脊髓小腦退化性動作協調障礙 Spinocerebellar ataxia G 結節性硬化症 Tuberous sclerosis Q 先天性痛不敏感症合併無汗症 Congenital insensitivity to pain with anhidrosis(cipa) L 神經纖維瘤症候第二型 Neurofibromatosis type Ⅱ Q Alexander 氏病 Alexander disease E 僵體症候 Stiffperson syndrome G 遺傳性痙攣性下身麻痺 Hereditary spastic paraplegia G Joubert 氏症候 ( 家族性小腦蚓部發育不全 ) Joubert syndrome Q Pelizaeus-Merzbacher 氏症 ( 慢性兒童型腦硬化症 ) Pelizaeus-Merzbacher Disease E Charcot Maire Tooth 氏症 ( 進行性神經性腓骨萎縮 Charcot Marie Tooth Disease G 症 ) 7

8 17 18 甘迺迪氏症 ( 脊髓延髓性肌肉萎縮症 ) 家族性澱粉樣多發性神經病變 Kennedy Disease Familial Amyloidotic Polyneuropathy G12.20 G12.21 G12.22 G12.29 E Moebius 症候 Moebius syndrome Q Mcleod 症候 Mcleod syndrome J Aicardi-Goutieres 症候 Aicardi-Goutieres syndrome G 普洛提斯症候 Proteus Syndrome Q MECP2 綜合症候 Methyl CpG binding protein 2 Duplication Syndrome Q (MECP2 Duplication Syndrome) 24 腦肋小頜症候 Cerebro-Costo-Mandibular Syndrome Q C 呼吸循環系統病變 C1 01 特發性嬰兒動脈硬化症 D Idiopathic Infantile Arterial Calcification Q 囊狀纖維化症 Cystic fibrosis E 原發性肺動脈高壓 Primary Pulmonary Hypertension (PPH) I Holt-Oram 氏症候 Holt-Oram Syndrome Q Andersen 氏症候 ( 心節律障礙暨週期性麻痺症候 Andersen syndrome E74.09 ; 鉀離子通道病變 ) 06 遺傳性出血性血管擴張症 Hereditary Hemorrhagic Telangiectasia 07 窒息性胸腔失養症 Asphyxiating thoracic dystrophy 先天性中樞性換氣不足症候消化系統病變進行性家族性肝內膽汁滯留症 02 先天性膽酸合成障礙 Congenital Central Hypoventilation Syndrome Progressive intrahepatic cholestasis,pfic Inborn errors of bile acid synthesis I Q G K E α1- 抗胰蛋白酶缺乏症 α1- Antitrypsin deficiency E 先天性 Cajal 氏間質細胞增 Congenital Interstitial Cell 生合併腸道神經元發育異 of Cajal Hyperplasia with Q 常 Neuronal Intestinal Dysplasia 8

9 05 阿拉吉歐症候 Alagille Syndrome Q E 腎臟泌尿系統病變 E1 01 Lowe 氏症候 Lowe syndrome E F 02 Bartter 氏症候 Bartter s syndrome E 體染色體隱性多囊性腎臟疾病皮膚病變 F1 01 遺傳性表皮分解性水泡症 02 層狀魚鱗癬 ( 自體隱性遺傳型 ) Autosomal recessive polycystic kidney disease Hereditary epidermolysis bullosa Q Q81.9 Q81.9 Ichthyosis, lamellar recessive Q80.2 Q 膠膜兒 Collodion baby Q80.2 Q 斑色魚鱗癬 Harlequin ichthyosis Q80.4 Q 水泡型先天性魚鱗癬樣紅 Bullous Congenital 皮症 ( 表皮鬆解性角化過度 ichthyosiform erythoderma 症 ) (epidermolytic hyperkeratosis) Q80.3 Q 外胚層增生不良症 Ectodermal Dysplasias Q82.4 Q Meleda 島病 Meleda disease Q82.8 Q Darier 氏症 ( 毛囊角化病 )Darier s disease Q82.8 Q 先天性角化不全症 Dyskeratosis Congenita Q82.8 Q 皮膚過度角化症雅司病 Diffuse Non-epidermolytic Palmoplantar Keratoderma type Q82.8 Q82.8 Unna-Thost 11 色素失調症 Incontinentia Pigmenti Q82.3 Q Netherton 症候 Netherton Syndrome Q80.3 Q80.3 G 肌肉病變 G1 01 裘馨氏肌肉失養症 Duchenne muscular dystrophy G71.0 G Nemaline 線狀肌肉病變 Nemaline Rod Myopathy G71.2 G Schwartz Jampel 氏症候 Schwartz Jampel syndrome G71.13 G 肌肉強直症 Myotonic dystrophy G71.11 G 面肩胛肱肌失養症 Facioscapulohumeral muscular dystrophy G71.0 G71.0 9

10 06 肌小管病變 Myotubular Myopathy G71.2 G 貝克型肌肉失養症 Becker Muscular Dystrophy G71.0 G Freeman-Sheldon 氏症候 Freeman-Sheldon syndrome Q87.0 Q 肢帶型肌失養症 Limb-girdle muscular dystrophy G71.0 G71.0 H 骨及軟骨病變 H1 01 軟骨發育不全症 Achondroplasia Q 成骨不全症 Osteogenesis imperfecta Q 原發性變形性骨炎 Primary Paget disease M88.0 M88.1 M M M M M M M M M M M M M M M M M M M M M M88.88 M88.89 M 鎖骨顱骨發育異常 Cleidocraninal dysplasia Q 進行性骨化性肌炎 Fibrodysplasia Ossificans Progressiva M61.10 M M M M M M M

11 06 裂手裂足症 Split-hand/ Split-foot malformation(shfm) M M M M M M M M M M M M M M M M M M M M M M M M61.18 M61.19 Q71.60 Q71.61 Q71.62 Q71.63 Q72.70 Q72.71 Q72.72 Q72.73 hand foot 骨質石化症 Osteopetrosis Q 假性軟骨發育不全 Pseudoachondroplastic dysplasia Q 多發性骨骺發育不全症 Multiple Epiphyseal Dysplasia Q I 結締組織病變 I1 01 先天結締組織異常第四型 Ehlers Danlos syndrome Ⅳ Q J 血液疾病 01 重型海洋性貧血 Thalassemia major D56.0 D 血小板無力症 Thrombasthenia D

12 03 同基因合子蛋白質 C 缺乏症 04 陣發性夜間血紅素尿症 05 非典型性尿毒溶血症候 Homozygous proetin C deficiency Paroxysmal Nocturnal Hemoglobinuria Atypical Hemolytic Uremic Syndrome D D D K 免疫疾病 K1 01 原發性慢性肉芽腫病 Chronic primary granulomatous disease D 先天性高免疫球蛋白 E 症候 Congenital Hyper IgE syndrome D 布魯頓氏低免疫球蛋白血症 Bruton s agammaglobulinemia D Wiskott- Aldrich 氏症候 Wiskott- Aldrich Syndrome D 嚴重複合型免疫缺乏症 06 補體成份 8 缺乏症 Severe combined immunodeficiency Complement Component 8 deficiency D81.0 D81.1 D81.2 D D IPEX 症候 IPEX Syndrome E L 08 高免疫球蛋白 M 症候 Hyper-IgM syndrome D γ 干擾素受體 1 缺陷內分泌疾病 Interferon γ receptor 1 deficiency D L1 01 Kenny-Caffey 氏症候 Kenny-Caffey syndrome Q 假性副甲狀腺低能症 Pseudohypoparathyroidism E 性連遺傳型低磷酸鹽佝僂症 04 Laron 氏侏儒症候 X-linked hypophosphatemic rickets Laron syndrome (Laron Dwarfism) E E Bardet-Biedl 氏症候 Bardet-Biedl syndrome Q Alstrom 氏症候 Alsrtom Syndrome Q 持續性幼兒型胰島素過度分泌低血糖症 Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) E Wolfram 氏症候 Wolfram syndrome,didmoad E McCune Albright 氏症候 McCune Albright syndrome Q

13 10 短指發育不良及性別顛倒 Campomelic dysplasia with autosomal sex reversal Q 腎上腺皮促素抗性 ACTH resistance E α- 羥化酶缺乏症候 1α-hydroxylase deficiency E 先天性腎上腺發育不全 Congenital adrenal hypoplasia Q Kallmann 氏症候 Kallmann syndrome E M 先天畸形症候 M1 01 Aarskog-Scott 氏症候 Aarskog-Scott syndrome Q 瓦登伯格氏症候 Waardenburg syndrome E 愛伯特氏症 Apert syndrome Q Smith-Lemli-Opitz 氏症候 05 Larsen 氏症候 ( 顎裂 - 先天性脫位症候 ) 06 Beckwith Wiedemann 氏症候 Smith-Lemli-Opitz syndrome E Larsen syndrome Q Beckwith Wiedemann syndrome Q Crouzon 氏症候 Crouzon syndrome Q Fraser 氏症候 Fraser syndrome Q 多發性翼狀膜症候 Multiple pterygium syndrome Q Cornelia de Lange 氏症候 Cornelia de Lange syndrome Q 海勒曼 - 史德萊夫氏症候 Hallerman-Streiff Syndrome Q 歌舞伎症候 Kabuki syndrome Q 耳 - 齶 - 指 ( 趾 ) 症候 Oto-Palato-Digital syndrome Q Conradi-Hunermann 氏症候 Conradi-Hunermann syndrome Q Treacher Collins 氏症候 Treacher Collins Syndrome Q Robinow 氏症候 Robinow Syndrome Q Pfeiffer 氏症候 Pfeiffer syndrome Q 泛酸鹽激酶關聯之神經退化性疾病 Pantothenate Kinase Associated Neurodegeneration(PKAN) G

14 19 指 ( 趾 ) 甲髕骨症候 Nail-Patella Syndrome Q CFC 症候 Cardiofaciocutaneous Syndrome Q Peters-Plus 症候 Peters-Plus syndrome Q Nager 症候 Nager Syndrome Q N 染色體異常 N1 01 Angelman 氏症候 Angelman syndrome Q DiGeorge s 症候 DiGeorge s syndrome D Prader-Willi 氏症候 Prader-Willi syndrome Q 威爾姆氏腫瘤無虹膜性 WAGR syndrome(wilms 器異常智能障礙症候 (W tumor-aniridia-genitourinary Q A G R 症候 ) Anomalies-mental Retardation) 05 Miller Dieker 症候 Miller Dieker syndrome Q Rubinstein-Taybi 氏症候 Rubinstein-Taybi syndrome Q 威廉斯氏症候 Williams Syndrome Q Von Hippel Lindau 症候 09 Branchio-Oto-Renal Syndrome(BOR Syndrome) Branchio-Oto-Renal 症候 (BOR 症候 ) Von Hippel Lindau disease Q Q Z 其他未分類或不明原因 Z1 01 Cockayne 氏症候 Cockayne syndrome Q 早老症 03 髮 - 肝 - 腸症候 Hutchinson Gilford progeria syndrome Tricho-hepato-enteric syndrome E Q Stargardt's 氏症 Stargardt's disease H

附件 1 新增公告罕見疾病名單分類序號疾病名稱中文翻譯 ( 僅供參考 ) ICD-9-CM 編碼 M1-21 Peters-Plus syndrome Peters-Plus 症候群 743.44 A9-03 Molybdenum cofact

附件 1 新增公告罕見疾病名單分類序號疾病名稱中文翻譯 ( 僅供參考 ) ICD-9-CM 編碼 M1-21 Peters-Plus syndrome Peters-Plus 症候群 743.44 A9-03 Molybdenum cofact 衛生勞動篇法規中華民國 100 年 9 月 6 日行政院衛生署公告署授國字第 1000401753 號主旨 : 公告新增 Peters-Plus syndrome 等 8 項罕見疾病修正 2 項已公告罕見疾病 ICD-9-CM 編碼及修正 185 項已公告罕見疾病分類序號如附件, 並