表單下載
根據政府規定，罕見疾病患者如欲申請「健保重大傷病證明」，須依循以下兩大步驟，如有申請疑問，請與診療醫師討論，謝謝。
-
第一步：完成國民健康署罕病通報與審查：須先向完成「罕見疾病通報」，並經專家委員會審查通過。
-
第二步：申請健保署重大傷病：國民健康署罕見疾病審查通過後，向健保署遞件申請「罕見疾病重大傷病」資格。
相關洽詢窗口
-
國民健康署｜罕見疾病整合式資訊管理系統
電話：(02) 2545-9066
-
成大醫院｜遺傳中心暨罕見疾病通報諮詢窗口
電話：(06) 235-3535 分機 3551
成大醫院遺傳中心可以協助院內醫事人員進行罕病通報。
若有罕病通報相關問題，敬請透過照會系統聯繫遺傳中心潘慧萍遺傳護理師，
或撥打院內分機 (06)235-3535轉3551 與罕見疾病個案管理師聯繫，謝謝。
►罕見疾病通報個案報告單
►衛生福利部國民健康署公告罕見疾病名單暨ICD-10-CM編碼一覽表：
- 罕見疾病個案通報審查基準_摘要彙總表(1150316版) .pdf(另開新視窗) / .odt(另開新視窗)
|
項
|
依公告罕病名單
之分類序號
|
疾病名稱 (中文/英文)
|
ICD-10
|
審查基準表及送審資料表
(請點選下載表單) |
|---|---|---|---|---|
|
1
|
A1-02
|
瓜胺酸血症
(Citrullinemia)
|
E72.23
|
|
|
2
|
A2-05
|
苯酮尿症
(Phenylketonuria)
|
E70.0
|
|
|
3
|
A2-08
|
楓糖尿症
(Maple syrup urine disease)
|
E71.0
|
|
|
4-1
|
A2-11
|
戊二酸尿症，第一型
(Glutaric aciduria type Ⅰ)
|
E72.3
|
|
|
4-2
|
A2-11
|
戊二酸尿症，第二型
(Glutaric aciduria type Ⅱ)
|
E71.313
|
|
|
5
|
A2-13
|
甲基丙二酸血症
(Methylmalonic acidemia)
|
E71.120
|
|
|
6
|
A2-18
|
三甲基巴豆醯輔酶A羧化酵素缺乏症
(3-Methylcrotonyl-CoA carboxylase deficiency)
|
E71.19
|
|
|
7
|
A2-21
|
芳香族L-胺基酸類脫羧基酶缺乏症
(Aromatic L-amino acid decarboxylase deficiency)
|
E70.81
|
|
|
8
|
A2-24
|
原發性高草酸鹽尿症
(Primary hyperoxaluria)
|
E72.53
|
|
|
9
|
A2-25
|
黑尿症
(Alkaptonuria)
|
E70.29
|
|
|
10
|
A3-03
|
Fabry氏症(法布瑞氏症)
(Fabry disease)
|
E75.21
|
|
|
11
|
A3-09
|
黏多醣症
(Mucopolysaccharidoses)
|
Type I Hurler's syndrome E76.01
Type I Hurler-Scheie syndrome E76.02 Type I Scheie syndrome E76.03 Type II Hunter syndrome E76.1 Type III Sanfilippo syndrome E76.22 Type IVA Morquio syndrome E76.210 Type IVB Morquio syndrome E76.211 Type IV Other Morquio syndrome E76.219 Other MPS E76.29 Unspecified MPS E76.3 |
|
|
12
|
A4-02
|
肝醣儲積症
(Glycogen storage disease)
|
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 |
|
|
13
|
A4-04
|
轉醛醇酶缺乏症
(Transaldolase deficiency)
|
E74.89
|
|
|
14
|
A5-01
|
脂肪酸氧化作用缺陷
(Fatty acid oxidation defect)
|
E71.30
E71.310 E71.311 E71.312 E71.313 E71.314 E71.318 E71.32 E71.39 |
|
|
15
|
A5-02
|
原發性肉鹼缺乏症
(Carnitine deficiency syndrome, primary)
|
E71.41
|
|
|
16
|
A6-01
|
粒線體缺陷
(Mitochondrial defect)
|
E88.40
|
|
|
17
|
A6-08
|
雷伯氏遺傳性視神經病變
(Leber hereditary optic neuropathy)
|
H47.22
|
|
|
18
|
A8-01
|
同合子家族性高膽固醇血症
(Homozygous familial hypercholesterolemia)
|
E78.01
|
|
|
19
|
A8-05
|
腦腱性黃瘤症
(Cerebrotendinous xanthomatosis)
|
E75.5
|
|
|
20
|
A9-01
|
威爾森氏症
(Wilson’s disease)
|
E83.01
|
|
|
21
|
A10-02
|
腎上腺腦白質失養症
(Adrenoleukodystrophy)
|
E71.511
E71.520 E71.521 E71.528 E71.529 |
|
|
22
|
A11-01
|
紫質症
(Porphyria)
|
E80.20
E80.21 E80.29 |
|
|
23
|
A11-04
|
先天性醣基化障礙
(Congenital disorder of glycosylation, CDG)
|
E77.8
|
|
|
24
|
A11-08
|
大腦肌酸缺乏症
(Cerebral creatine deficiency)
|
E72.89
|
|
|
25
|
A11-09
|
硫胺素(維生素B1)代謝功能障礙症候群
(Thiamine metabolism dysfunction syndromes)
|
E51.8
|
|
|
26
|
A11-10
|
嘌呤合成代謝異常
(Disorders of Purine biosynthesis metabolism)
|
E79.8
E79.9 |
|
|
27
|
B1-01
|
多發性硬化症/泛視神經脊髓炎
(Multiple sclerosis, MS/ Neuromyelitis optica spectrum disorders, NMOSD)
|
G35/G36.0
|
|
|
28
|
B1-02
|
肌萎縮性側索硬化症
(Amyotrophic lateral sclerosis (ALS))
|
G12.21
|
|
|
29
|
B1-04
|
亨丁頓氏舞蹈症
(Huntington disease(又稱Huntington’s chorea))
|
G10
|
|
|
30
|
B1-05
|
雷特氏症
(Rett syndrome)
|
F84.2
|
|
|
31
|
B1-06
|
脊髓性肌肉萎縮症
(Spinal muscular atrophy)
|
G12.0
G12.1 |
|
|
32
|
B1-07
|
脊髓小腦退化性動作協調障礙
(Spinocerebellar ataxia)
|
G11.9
G11.10 G11.11
G11.19
G11.2
G11.8
|
|
|
33
|
B1-08
|
結節性硬化症
(Tuberous sclerosis)
|
Q85.1
|
|
|
34
|
B1-10
|
神經纖維瘤症候群第二型
(Neurofibromatosis type Ⅱ)
|
Q85.02
|
|
|
35
|
B1-13
|
遺傳性痙攣性下身麻痺
(Hereditary spastic paraplegia)
|
G11.4
|
|
|
36
|
B1-16
|
夏柯-馬利-杜斯氏症
(Charcot-Marie-Tooth disease)
|
G60.0
|
|
|
37
|
B1-17
|
甘迺迪氏症(脊髓延髓性肌肉萎縮症)
(Kennedy disease)
|
G12.20
G12.24 G12.29 |
|
|
38
|
B1-18
|
家族性澱粉樣多發性神經病變
(Familial amyloidotic polyneuropathy)
|
E85.1
|
|
|
39
|
B1-23
|
Dravet症候群
(Dravet syndrome, DS )
|
G40.833
G40.834 |
|
|
40
|
B1-24
|
腦白質消失症
(Vanishing white matter disease)
|
G11.8
|
|
|
41
|
B1-26
|
磷脂質脂解酶A2關聯之神經退化性疾病
(Phospholipase A2-associated neurodegeneration (PLAN))
|
G23.0
|
|
|
42
|
B1-27
|
皮特-霍普金斯症候群
(Pitt-Hopkins syndrome)
|
Q87.0
|
|
|
43
|
B1-28
|
Beta螺旋狀蛋白關聯之神經退化疾病
(Beta-Propeller protein-associated neurodegeneration (BPAN))
|
G23.0
|
|
|
44
|
B1-29
|
嬰兒型上行性遺傳性痙攣性麻痺
(Infantile-onset ascending hereditary spastic paralysis, IAHSP)
|
G12.20
G12.24 G12.29 |
|
|
45
|
B1-31
|
Von Hippel-Lindau症候群
(Von Hippel-Lindau disease)
|
Q85.83
|
|
|
46
|
B1-32
|
Basilicata-Akhtar症候群
(Basilicata-Akhtar syndorme)
|
F78.A9
F84.8 |
|
|
47
|
B1-33
|
舞蹈症-棘紅細胞增多症
(Chorea-acanthocytosis)
|
G25.5
|
|
|
48
|
C1-02
|
囊狀纖維化症
(Cystic fibrosis)
|
E84.9
|
|
|
49
|
C1-03
|
特發性或遺傳性肺動脈高壓
(Idiopathic or Heritable pulmonary arterial hypertension (IPAH or HPAH）)
|
I27.0
|
|
|
50
|
C1-06
|
遺傳性出血性血管擴張症
(Hereditary hemorrhagic telangiectasia)
|
I78.0
|
|
|
51
|
E1-04
|
亞伯氏症候群
(Alport syndrome)
|
Q87.81
|
|
|
52
|
F1-01
|
遺傳性表皮分解性水皰症
(Hereditary epidermolysis bullosa)
|
Q81.0
Q81.1 Q81.2 Q81.8 Q81.9 |
|
|
53
|
F1-05
|
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))
|
Q80.3
|
|
|
54
|
F1-06
|
外胚層增生不良症
(Ectodermal dysplasias)
|
Q82.4
|
|
|
55
|
F1-11
|
色素失調症
(Incontinentia pigmenti)
|
Q82.3
|
|
|
56
|
G1-01
|
裘馨氏肌肉失養症
(Duchenne muscular dystrophy)
|
G71.01
|
|
|
57
|
G1-04
|
肌肉強直症
(Myotonic dystrophy)
|
G71.11
|
|
|
58
|
G1-05
|
面肩胛肱肌失養症
(Facioscapulohumeral muscular dystrophy)
|
G71.02
|
|
|
59
|
G1-06
|
肌小管病變
(Myotubular myopathy)
|
G71.220
|
|
|
60
|
G1-09
|
肢帶型肌失養症
(Limb-girdle muscular dystrophy)
|
G71.031
G71.032 G71.033 G71.0340 G71.0341 G71.0342 G71.0349 G71.035 G71.038 G71.039 |
|
|
61
|
G1-10
|
先天性肌失養症
(Congenital muscular dystrophy)
|
G71.20
|
|
|
62
|
G1-11
|
中心軸空肌病
(Central core disease)
|
G71.29
|
|
|
63
|
G1-13
|
Emery-Dreifuss肌失養症
(Emery-Dreifuss muscular dystrophy (EDMD))
|
G71.00
G71.038 G71.09 |
|
|
64
|
G1-14
|
GNE遠端肌病變
(GNE myopathy)
|
G71.8
G71.9 |
|
|
65
|
G1-15
|
史托摩根症候群
(Stormorken syndrome)
|
D69.8
|
|
|
66
|
H1-01
|
軟骨發育不全症
(Achondroplasia)
|
Q77.4
Q77.8 |
|
|
67
|
H1-02
|
成骨不全症
(Osteogenesis imperfecta)
|
Q78.0
|
|
|
68
|
H1-08
|
假性軟骨發育不全
(Pseudoachondroplastic dysplasia)
|
Q77.8
|
|
|
69
|
H1-10
|
顱骨幹骺端發育不良
(Craniometaphyseal dysplasia)
|
Q78.8
|
|
|
70
|
J1-01
|
重型海洋性貧血
(Thalassemia major)
|
D56.0
D56.1 |
|
|
71
|
J1-03
|
同基因合子蛋白質C缺乏症
(Homozygous protein C deficiency)
|
D68.59
|
|
|
72
|
J1-04
|
陣發性夜間血紅素尿症
(Paroxysmal nocturnal hemoglobinuria)
|
D59.5
|
|
|
73
|
J1-05
|
先天性血栓性血小板低下紫斑症
(Congenital thrombotic thrombocytopenic purpura)
|
D69.42
|
|
|
74
|
K1-05
|
嚴重複合型免疫缺乏症
(Severe combined immunodeficiency)
|
D81.0
D81.1 D81.2 D81.31 D81.9 |
|
|
75
|
K1-10
|
遺傳性血管性水腫
(Hereditary angioedema (HAE))
|
D84.1
|
|
|
76
|
K1-12
|
非典型性尿毒溶血症候群
(Atypical hemolytic uremic syndrome)
|
D59.32
D59.39 |
|
|
77
|
L1-02
|
假性副甲狀腺低能症
(Pseudohypoparathyroidism)
|
E20.1
|
|
|
78
|
L1-03
|
遺傳性低磷酸鹽佝僂症
(X-linked hypophosphatemic rickets)
|
E83.31
|
|
|
79
|
L1-07
|
持續性幼兒型胰島素過度分泌低血糖症
(Persistent hyperinsulinemic hypoglycemia of infancy (PHHI))
|
E16.1
|
|
|
80
|
L1-14
|
Kallmann氏症候群
(Kallmann syndrome)
|
E23.0
|
|
|
81
|
L1-16
|
MIRAGE症候群
(MIRAGE syndrome)
|
Q89.8
|
|
|
82
|
M1-02
|
瓦登伯格氏症候群
(Waardenburg syndrome)
|
Q87.89
|
|
|
83
|
M1-06
|
Beckwith Wiedemann氏症候群
(Beckwith Wiedemann syndrome)
|
Q87.3
|
|
|
84
|
M1-09
|
Cornelia de Lange氏症候群
(Cornelia de Lange syndrome)
|
Q87.19
|
|
|
85
|
M1-11
|
Kabuki症候群
(Kabuki syndrome)
|
Q89.8
|
|
|
86
|
M1-20
|
CHARGE症候群
(CHARGE syndrome)
|
Q89.8
|
|
|
87
|
M1-22
|
克斯提洛氏彈性蛋白缺陷症
(Costello syndrome)
|
Q87.89
|
|
|
88
|
M1-23
|
Ayme-Gripp症候群
(Ayme-Gripp syndrome)
|
Q87.89
|
|
|
89
|
M1-24
|
Coffin-Lowry症候群
(Coffin-Lowry syndrome)
|
Q89.8
|
|
|
90
|
M1-25
|
Myhre症候群
(Myhre syndrome)
|
Q87.89
|
|
|
91
|
M1-26
|
森森布倫納症候群
(Sensenbrenner syndrome)
|
Q87.5
|
|
|
92
|
M1-27
|
克片-魯賓斯基症候群
(Keppen-Lubinsky syndrome)
|
E88.1
|
|
|
93
|
M1-28
|
Angelman氏症候群
(Angelman syndrome)
|
Q93.51
|
|
|
94
|
M1-29
|
DiGeorge症候群
(DiGeorge syndrome)
|
D82.1
|
|
|
95
|
M1-30
|
Prader-Willi氏症候群
(Prader-Willi syndrome)
|
Q87.11
|
|
|
96
|
M1-33
|
Rubinstein-Taybi氏症候群
(Rubinstein-Taybi syndrome)
|
Q87.2
|
|
|
97
|
M1-34
|
威廉斯氏症候群
(Williams syndrome)
|
Q93.82
|
|
|
98
|
M1-37
|
Cockayne氏症候群
(Cockayne syndrome)
|
Q87.19
|
|
|
99
|
M1-39
|
Schaaf-Yang 症候群
(Schaaf-Yang syndrome)
|
Q87.19
|
|
|
100
|
M1-40
|
Galloway-Mowat症候群
(Galloway-Mowat syndrome)
|
Q04.3
|
|
|
101
|
N1-03
|
萊伯氏先天性黑矇症
(Leber congenital amaurosis)
|
H35.50
|
