|
分類
|
序號
|
中文病名
（僅供參考）
|
英文病名(縮寫)
|
ICD-10-CM診斷代碼
|
|
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
|
E72.20
|
|
|
02
|
瓜胺酸血症
|
Citrullinemia
|
E72.23
|
|
|
03
|
乙醯榖胺酸合成𡓨缺乏症
|
Nitroacetylglutamate synthetase deficiency, NAG
synthetase deficiency
|
E72.29
|
|
|
04
|
鳥胺酸氨甲醯基轉移𡓨缺乏症
|
Ornithine transcarbamylase deficiency
|
E72.4
|
|
|
05
|
高鳥胺酸血症-高氨血症-高瓜胺酸血症症候群
|
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
|
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
disorders（Aminoacidopathies）
|
E72.8
|
|
|
02
|
高胱胺酸血症
|
Homocystinuria
|
E72.11
|
|
|
03
|
高甲硫胺酸血症
|
Hypermethioninemia
|
E72.19
|
|
|
04
|
非酮性高甘胺酸血症
|
Nonketotic
hyperglycinemia
|
E72.51
|
|
|
05
|
苯酮尿症
|
Phenylketouria
|
E70.0
|
|
|
06
|
四氫基喋呤缺乏症
|
Tetrahydrobiopterin
deficiency
|
E70.1
|
|
|
07
|
遺傳性高酪胺酸血症
|
Hereditary tyrosinemia
|
E70.21
|
|
|
08
|
楓糖尿症
|
Maple syrup urine disease
|
E71.0
|
|
|
09
|
有機酸血症
|
Organic acidemias
|
E71.118
|
|
|
10
|
異戊酸血症
|
Isovaleric acidemia
|
E71.110
|
|
|
11
|
戊二酸尿症，第一型、第二型
|
Glutaric aciduria type Ⅰ、Ⅱ
|
type I:E72.3
type11:E71.313
|
|
|
12
|
丙酸血症
|
Propionic acidemia
|
E71.121
|
|
|
13
|
甲基丙二酸血症
|
Methylmalonic acidemia
|
E71.120
|
|
|
14
|
3-羥基-3-甲基戊二酸血症
|
3-Hydroxy-3-methyl-methylglutaric
acidemia
|
E71.118
|
|
|
15
|
典型苯酮尿症合併蔗糖𡓨同麥芽糖𡓨缺乏症
|
PAH type PKU combine with
Sucrase-isomaltase deficiency
|
E74.31+E70.0
|
|
|
16
|
高離胺基酸血症
|
Hyperlysinemia
|
E72.3
|
|
|
17
|
組胺酸血症
|
Histidinemia
|
E70.41
|
|
|
18
|
三甲基巴豆醯輔𡓨A羧化酵素缺乏症
|
3-Methylcrotonyl-CoA
carboxylase deficiency
|
E71.19
|
|
|
19
|
多發性羧化𡓨缺乏症
|
Multiple carboxylase
deficiency
|
D81.819
|
|
|
20
|
高脯胺酸血症
|
Hyperprolinemia
|
E72.59
|
|
|
21
|
芳香族L-胺基酸類脫羧基𡓨缺乏症
|
Aromatic L-amino acid
decarboxylase deficiency
|
E70.9
|
|
|
22
|
酪胺酸羥化𡓨缺乏症
|
Tyrosine hydroxylase
deficiency
|
E70.20
|
|
|
23
|
甲基丙二酸血症併高胱胺酸血症（Cbl C型）
|
Cobalamin C defect （Methylmalonic
aciduria and Homocystinuria, cbl C type）
|
E71.120+E72.11
|
|
◎ A3脂質儲積
|
|
A3
|
01
|
高雪氏症
|
Gaucher’s disease
|
E75.22
|
|
|
02
|
GM1/GM2神經節𢜟脂儲積症
|
GM1/GM2 gangliosidosis
|
GM1:E75.19
GM2: E75.00
|
|
|
03
|
Fabry 氏症
|
Fabry disease
|
E75.21
|
|
|
04
|
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:unspecified
|
|
|
05
|
MLD症候群
|
Metachromatic
Leukodystrophy（MLD）
|
E75.25
|
|
|
06
|
球細胞腦白質失養症
|
Globoid Cell
Leukodystrophy (Krabbe’s disease)
|
E75.23
|
|
|
07
|
嬰兒型溶𡓨體酸性脂肪𡓨缺乏症（又稱伍爾曼氏症）
|
Infantile form Lysosomal
Acid Lipase Deficiency （Wolman Disease）
|
E75.5
|
|
◎A4碳水化合物代謝異常
|
|
A4
|
01
|
半乳糖血症
|
Galactosemia
|
E74.21
|
|
|
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
E74.01:Von
Gierke's
|
|
|
03
|
腦血管屏障葡萄糖輸送缺陷
|
Glut（Glucose Transport）1 deficiency syndrome
|
E74.8
|
|
|
04
|
轉醛醇𡓨缺乏症
|
Transaldolase deficiency
|
E74.8
|
|
◎ A5脂肪酸氧化異常
|
|
|
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
|
|
|
02
|
原發性肉鹼缺乏症
|
Carnitine deficiency syndrome,
primary
|
E71.41
|
|
|
03
|
中鏈脂肪酸去氫酵素缺乏症
|
Medium-chain
acyl-coenzyme A dehydrogenase deficiency（MCAD）
|
E71.311
|
|
|
04
|
短鏈脂肪酸去氫𡓨缺乏症
|
Short-chain acyl-CoA
dehydrogenase deficiency
|
E71.312
|
|
◎ A6粒線體代謝異常
|
|
A6
|
01
|
粒線體缺陷
|
Mitochondrial defect
|
E88.40
|
|
|
02
|
Kearns-Sayre 氏症候群
|
Kearns-Sayre syndrome
|
H49.811
H49.812
H49.813
H49.819
|
|
|
03
|
Leigh 氏童年期腦脊髓病變
|
Leigh disease
|
G31.82
|
|
|
04
|
MELAS症候群
|
MELAS
|
E88.41
|
|
|
05
|
MNGIE症候群粒線體性神經胃腸腦病變症候群
|
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
|
E88.49
|
|
|
06
|
丙酮酸鹽脫氫𡓨缺乏症
|
Pyruvate dehydrogenase
deficiency
|
E74.4
|
|
|
07
|
巴氏症候群
|
Barth Syndrome
|
E78.71
|
|
|
08
|
雷伯氏遺傳性視神經病變
|
Leber hereditary optic
neuropathy
|
H47.22
|
|
◎ A7溶小體代謝異常
|
|
A7
|
01
|
胱胺酸血症
|
Cystinosis
|
E72.04
|
|
|
02
|
黏多醣症
|
Mucopolysaccharidoses
|
Type1: E76.01
E76.02
E76.03
Type2:E76.1
other：
E76.210
E76.211
E76.219
E76.22
E76.29
Unspecified:E76.3
|
|
|
03
|
岩藻糖代謝異常（儲積症）
|
Fucosidosis
|
E77.1
|
|
|
04
|
涎酸酵素缺乏症
|
Sialidosis
|
E77.1
|
|
|
05
|
黏脂質症
|
Mucolipidosis
|
type I: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
|
E75.4
|
|
|
07
|
多發性硫酸脂𡓨缺乏症
|
Multiple Sulfatase
deficiency
|
E75.29
|
|
◎ 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
|
E78.0
|
|
|
02
|
家族性高乳糜微粒血症
|
Familial
Hyperchylomicronemia
|
E78.3
|
|
|
03
|
豆固醇血症（植物性）
|
Sitosterolemia
|
E78.0
|
|
◎A9礦物離子缺陷
|
|
A9
|
01
|
威爾森氏症
|
Wilson’s disease
|
E83.01
|
|
|
02
|
Menkes 症候群
|
Menkes syndrome
|
E83.09
|
|
|
03
|
鉬輔𡓨缺乏症
|
Molybdenum cofactor
deficiency
|
E61.5
|
|
◎ A10過氧化體代謝異常
|
|
A10
|
01
|
Zellweger氏症候群
|
Zellweger syndrome
|
E71.510
|
|
|
02
|
腎上腺腦白質失養症
|
Adrenoleukodystrophy
|
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
|
E71.540
|
|
◎ A11其他代謝異常
|
|
|
01
|
紫質症
|
Porphyria
|
E80.20
E80.21
E80.29
|
|
|
02
|
Lesch-Nyhan氏症候群
|
Lesch-Nyhan syndrome
|
E79.1
|
|
|
03
|
亞硫酸鹽氧化𡓨缺乏
|
Sulfite oxidase deficiency
|
E72.19
|
|
|
04
|
碳水化合缺乏醣蛋白症候群
|
Carbohydrate-deficiency glycoprotein
syndrome
|
E77.8
|
|
|
05
|
三甲基胺尿症
|
Trimethylaminuria
|
E72.52
|
|
|
06
|
先天性全身脂質營養不良症
|
Congenital generalized
lipodystrophy
|
E88.1
|
|
|
07
|
腦腱性黃瘤症
|
Cerebrotendinous Xanthomatosis
|
E75.5
|
|
|
08
|
低磷酸酯𡓨症
|
Hypophosphatasia
|
E83.39
E83.31
|
|
|
09
|
Beta硫解𡓨缺乏症
|
Beta-Ketothiolase
Deficiency
|
E71.19
|
|
|
10
|
生物素𡓨缺乏症
|
Biotinidase Deficiency
|
D81.810
|
|
|
11
|
大腦肌酸缺乏症
|
Cerebral Creatine Deficiency
|
E72.8
|
|
|
12
|
硫胺素（維生素B1）代謝功能障礙症候群
|
Thiamine Metabolism Dysfunction
Syndromes
|
E51.8
|
|
B 腦部或神經系統病變
|
|
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
|
|
|
02
|
肌萎縮性側索硬化症
|
Amyotrophic lateral
sclerosis（ALS）
|
G12.21
|
|
|
03
|
共濟失調微血管擴張症候群
|
Ataxia telangiectasia
|
G11.3
|
|
|
04
|
亨丁頓氏舞蹈症
|
Huntington disease（又稱Huntington's
chorea）
|
G10
|
|
|
05
|
雷特氏症
|
Rett syndrome
|
F84.2
|
|
|
06
|
脊髓性肌肉萎縮症
|
Spinal muscular atrophy
|
G12.9
|
|
|
07
|
脊髓小腦退化性動作協調障礙
|
Spinocerebellar ataxia
|
G11.1
|
|
|
08
|
結節性硬化症
|
Tuberous sclerosis
|
Q85.1
|
|
|
09
|
先天性痛不敏感症合併無汗症
|
Congenital insensitivity
to pain with anhidrosis（CIPA）
|
L74.4
|
|
|
10
|
神經纖維瘤症候群第二型
|
Neurofibromatosis type Ⅱ
|
Q85.02
|
|
|
11
|
Alexander 氏病
|
Alexander disease
|
E75.29
|
|
|
12
|
僵體症候群
|
Stiffperson syndrome
|
G25.82
|
|
|
13
|
遺傳性痙攣性下身麻痺
|
Hereditary spastic
paraplegia
|
G11.4
|
|
|
14
|
Joubert氏症候群（家族性小腦蚓部發育不全）
|
Joubert syndrome
|
Q04.3
|
|
|
15
|
Pelizaeus-Merzbacher氏症（慢性兒童型腦硬化症）
|
Pelizaeus-Merzbacher Disease
|
E75.29
|
|
|
16
|
夏柯-馬利-杜斯氏症
|
Charcot-Marie-Tooth
Disease
|
G60.0
|
|
|
17
|
甘迺迪氏症(脊髓延髓性肌肉萎縮症)
|
Kennedy Disease
|
G12.20
G12.21
G12.22
G12.29
|
|
|
18
|
家族性澱粉樣多發性神經病變
|
Familial Amyloidotic
Polyneuropathy
|
E85.1
|
|
|
19
|
Moebius症候群
|
Moebius syndrome
|
Q87.0
|
|
|
20
|
Mcleod 症候群
|
Mcleod syndrome
|
Q97.8
Q98.8
|
|
|
21
|
Aicardi-Goutieres症候群
|
Aicardi-Goutieres syndrome
|
G31.89
|
|
|
22
|
普洛提斯症候群
|
Proteus Syndrome
|
Q87.3
|
|
|
23
|
MECP2 綜合症候群
|
Methyl CpG binding
protein 2 Duplication Syndrome
（MECP2 Duplication
Syndrome）
|
Q99.8
|
|
|
24
|
腦肋小頜症候群
|
Cerebro-Costo-Mandibular
Syndrome
|
Q87.89
|
|
|
25
|
Dravet症候群
|
Dravet Syndrome, DS
|
G40.311
|
|
|
26
|
腦白質消失症
|
Vanishing White Matter Disease
|
G37.8
|
|
|
27
|
泛酸鹽激𡓨關聯之神經退化性疾病
|
Pantothenate Kinase Associated
Neurodegeneration（PKAN）
|
G23.0
|
|
|
28
|
磷脂質脂解𡓨A2關聯之神經退化性疾病
|
Phospholipase A2-associated
neurodegeneration （PLAN）
|
G23.0
|
|
|
29
|
皮特-霍普金斯症候群
|
Pitt-Hopkins Syndrome
|
Q87.0
|
|
|
30
|
Beta 螺旋狀蛋白關
聯之神經退化疾病
|
Beta-Propeller Protein-
Associated Neurodegeneration
（BPAN）
|
G23.0
|
|
|
31
|
嬰兒型上行性遺傳性痙攣性麻痺
|
Infantile-Onset Ascending
Hereditary Spastic
Paralysis, IAHSP
|
G12.2
|
|
C 呼吸循環系統病變
|
|
C1
|
01
|
特發性嬰兒動脈硬化症
|
Idiopathic Infantile
Arterial Calcification
|
Q28.8
|
|
|
02
|
囊狀纖維化症
|
Cystic fibrosis
|
E84.9
|
|
|
03
|
特發性或遺傳性肺動脈高壓
|
Idiopathic or Heritable
pulmonary arterial hypertension（IPAH or HPAH）
|
I27.0
|
|
|
04
|
Holt-Oram氏症候群
|
Holt-Oram
Syndrome
|
Q87.2
|
|
|
05
|
Andersen氏症候群（心節律障礙暨週期性麻痺症候群；鉀離子通道病變）
|
Andersen syndrome
|
E74.09
|
|
|
06
|
遺傳性出血性血管擴張症
|
Hereditary Hemorrhagic
Telangiectasia
|
I78.0
|
|
|
07
|
窒息性胸腔失養症
|
Asphyxiating thoracic
dystrophy
|
Q77.2
|
|
|
08
|
先天性中樞性換氣不足症候群
|
Congenital Central
Hypoventilation Syndrome
|
G47.35
|
|
D 消化系統病變
|
|
|
01
|
進行性家族性肝內膽汁滯留症
|
Progressive familial
cholestasis, PFIC
|
K83.1
|
|
|
02
|
先天性膽酸合成障礙
|
Inborn errors of bile
acid synthesis
|
E78.70
|
|
|
03
|
α1-抗胰蛋白𡓨缺乏症
|
α1- Antitrypsin deficiency
|
E88.01
|
|
|
04
|
先天性Cajal氏間質細胞增生合併腸道神經元發育異常
|
Congenital Interstitial
Cell of Cajal Hyperplasia with Neuronal
Intestinal Dysplasia
|
Q43.8
|
|
|
05
|
阿拉吉歐症候群
|
Alagille Syndrome
|
Q44.7
|
|
E 腎臟泌尿系統病變
|
|
E1
|
01
|
Lowe 氏症候群
|
Lowe syndrome
|
E72.03
|
|
|
02
|
Bartter氏症候群
|
Bartter’s syndrome
|
E26.81
|
|
|
03
|
體染色體隱性多囊性腎臟疾病
|
Autosomal recessive
polycystic kidney disease
|
Q61.19
|
|
|
04
|
亞伯氏症候群
|
Alport Syndrome
|
Q87.81
|
|
F 皮膚病變
|
|
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
|
|
|
02
|
層狀魚鱗癬（自體隱性遺傳型)
|
Ichthyosis, lamellar
recessive
|
Q80.2
|
|
|
03
|
膠膜兒
|
Collodion baby
|
Q80.2
|
|
|
04
|
斑色魚鱗癬
|
Harlequin ichthyosis
|
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）
|
Q80.3
|
|
|
06
|
外胚層增生不良症
|
Ectodermal Dysplasias
|
Q82.4
|
|
|
07
|
Meleda島病
|
Meleda disease
|
Q82.8
|
|
|
08
|
Darier氏症（毛囊角化病）
|
Darier’s disease
|
Q82.8
|
|
|
09
|
先天性角化不全症
|
Dyskeratosis Congenita
|
Q82.8
|
|
|
10
|
皮膚過度角化症雅司病
|
Diffuse Non-epidermolytic Palmoplantar Keratoderma type Unna-Thost
|
Q82.8
|
|
|
11
|
色素失調症
|
Incontinentia Pigmenti
|
Q82.3
|
|
|
12
|
Netherton症候群
|
Netherton Syndrome
|
Q80.3
|
|
G 肌肉病變
|
|
G1
|
01
|
裘馨氏肌肉失養症
|
Duchenne muscular
dystrophy
|
G71.0
|
|
|
02
|
Nemaline線狀肌肉病變
|
Nemaline Rod Myopathy
|
G71.2
|
|
|
03
|
Schwartz Jampel氏症候群
|
Schwartz Jampel syndrome
|
G71.13
|
|
|
04
|
肌肉強直症
|
Myotonic dystrophy
|
G71.11
|
|
|
05
|
面肩胛肱肌失養症
|
Facioscapulohumeral
muscular dystrophy
|
G71.0
|
|
|
06
|
肌小管病變
|
Myotubular Myopathy
|
G71.2
|
|
|
07
|
貝克型肌肉失養症
|
Becker Muscular Dystrophy
|
G71.0
|
|
|
08
|
Freeman-Sheldon氏症候群
|
Freeman-Sheldon syndrome
|
Q87.0
|
|
|
09
|
肢帶型肌失養症
|
Limb-girdle muscular
dystrophy
|
G71.0
|
|
|
10
|
先天性肌失養症
|
Congenital Muscular
Dystrophy
|
G71.0
|
|
|
11
|
中心軸空肌病
|
Central Core Disease
|
G71.2
|
|
|
12
|
多微小軸空肌病
|
Multiminicore Disease
|
G71.2
|
|
|
13
|
Emery–Dreifuss肌失養症
|
Emery–Dreifuss
Ｍuscular Dystrophy（EDMD）
|
G71.0
|
|
|
14
|
GNE遠端肌病變
|
GNE myopathy
|
G71.8
|
|
|
15
|
史托摩根症候群
|
Stormorken syndrome
|
D69.8
|
|
H 骨及軟骨病變
|
|
H1
|
01
|
軟骨發育不全症
|
Achondroplasia
|
Q77.4
|
|
|
02
|
成骨不全症
|
Osteogenesis imperfecta
|
Q78.0
|
|
|
03
|
原發性變形性骨炎
|
Primary Paget disease
|
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
|
Q74.0
|
|
|
05
|
進行性骨化性肌炎
|
Fibrodysplasia Ossificans Progressiva
|
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）
|
Q71.60
Q71.61
Q71.62
Q71.63
|
Q72.70
Q72.71
Q72.72
Q72.73
|
|
|
07
|
骨質石化症
|
Osteopetrosis
|
Q78.2
|
|
|
08
|
假性軟骨發育不全
|
Pseudoachondroplastic dysplasia
|
Q77.8
|
|
|
09
|
多發性骨烖發育不全症
|
Multiple Epiphyseal
Dysplasia
|
Q78.3
|
|
|
10
|
顱骨幹烖端發育不良
|
Craniometaphyseal Dysplasia
|
Q78.8
|
|
I 結締組織病變
|
|
I1
|
01
|
先天結締組織異常第四型
|
Ehlers Danlos syndrome Ⅳ
|
Q79.6
|
|
J 血液疾病
|
|
|
01
|
重型海洋性貧血
|
Thalassemia major
|
D56.0
D56.1
|
|
|
02
|
血小板無力症
|
Thrombasthenia
|
D69.1
|
|
|
03
|
同基因合子蛋白質C缺乏症
|
Homozygous protein C deficiency
|
D68.59
|
|
|
04
|
陣發性夜間血紅素尿症
|
Paroxysmal Nocturnal
Hemoglobinuria
|
D59.5
|
|
|
05
|
非典型性尿毒溶血症候群
|
Atypical Hemolytic Uremic
Syndrome
|
D59.3
|
|
K 免疫疾病
|
|
K1
|
01
|
原發性慢性肉芽腫病
|
Chronic primary
granulomatous disease
|
D71
|
|
|
02
|
先天性高免疫球蛋白E症候群
|
Congenital Hyper IgE syndrome
|
D82.4
|
|
|
03
|
布魯頓氏低免疫球蛋白血症
|
Bruton’s
agammaglobulinemia
|
D80.0
|
|
|
04
|
Wiskott- Aldrich氏症候群
|
Wiskott- Aldrich Syndrome
|
D82.0
|
|
|
05
|
嚴重複合型免疫缺乏症
|
Severe combined
immunodeficiency
|
D81.0
D81.1
D81.2
D81.9
|
|
|
06
|
補體成份8缺乏症
|
Complement Component 8
deficiency
|
D84.1
|
|
|
07
|
IPEX 症候群
|
IPEX Syndrome
|
E31.0
|
|
|
08
|
高免疫球蛋白M症候群
|
Hyper-IgM syndrome
|
D80.5
|
|
|
09
|
γ 干擾素受體1缺陷
|
Interferon γ receptor 1
deficiency
|
D84.8
|
|
|
10
|
遺傳性血管性水腫
|
Hereditary Angioedema（HAE）
|
D84.1
|
|
L 內分泌疾病
|
|
L1
|
01
|
Kenny-Caffey氏症候群
|
Kenny-Caffey syndrome
|
Q87.1
|
|
|
02
|
假性副甲狀腺低能症
|
Pseudohypoparathyroidism
|
E20.1
|
|
|
03
|
性聯遺傳型低磷酸鹽佝僂症
|
X-linked hypophosphatemic rickets
|
E83.31
|
|
|
04
|
Laron 氏侏儒症候群
|
Laron syndrome
（Laron Dwarfism）
|
E34.3
|
|
|
05
|
Bardet-Biedl氏症候群
|
Bardet-Biedl syndrome
|
Q87.89
|
|
|
06
|
Alstrom氏症候群
|
Alsrtom Syndrome
|
Q87.89
|
|
|
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
|
|
|
08
|
Wolfram氏症候群
|
Wolfram syndrome，DIDMOAD
|
E88.9
|
|
|
09
|
McCune Albright氏症候群
|
McCune Albright syndrome
|
Q78.1
|
|
|
10
|
短指發育不良及性別顛倒
|
Campomelic dysplasia with
autosomal sex reversal
|
Q99.8
|
|
|
11
|
腎上腺皮促素抗性
|
ACTH resistance
|
E27.49
|
|
|
12
|
第一型遺傳性維生素D依賴型佝僂症
|
25-Hydroxyvitamin D
1-Alpha-Hydroxylase Deficiency
|
E83.32
|
|
|
13
|
先天性腎上腺發育不全
|
Congenital adrenal
hypoplasia
|
Q89.1
|
|
|
14
|
Kallmann氏症候群
|
Kallmann syndrome
|
E23.0
|
|
|
15
|
永久性新生兒糖尿病
|
Permanent Neonatal
Diabetes Mellitus
|
P70.2
|
|
|
16
|
MIRAGE症候群
|
MIRAGE syndrome
|
Q89.8
|
|
M 先天畸形症候群
|
|
M1
|
01
|
Aarskog-Scott氏症候群
|
Aarskog-Scott syndrome
|
Q87.1
|
|
|
02
|
瓦登伯格氏症候群
|
Waardenburg syndrome
|
E70.8
|
|
|
03
|
愛伯特氏症
|
Apert syndrome
|
Q87.0
|
|
|
04
|
Smith-Lemli-Opitz氏症候群
|
Smith-Lemli-Opitz
syndrome
|
E78.72
|
|
|
05
|
Larsen氏症候群（顎裂-先天性脫位症候群）
|
Larsen syndrome
|
Q74.8
|
|
|
06
|
Beckwith Wiedemann氏症候群
|
Beckwith Wiedemann
syndrome
|
Q87.3
|
|
|
07
|
Crouzon氏症候群
|
Crouzon syndrome
|
Q75.1
|
|
|
08
|
Fraser氏症候群
|
Fraser syndrome
|
Q87.0
|
|
|
09
|
多發性翼狀膜症候群
|
Multiple pterygium
syndrome
|
Q79.8
|
|
|
10
|
Cornelia de Lange氏症候群
|
Cornelia de Lange
syndrome
|
Q87.1
|
|
|
11
|
海勒曼-史德萊夫氏症候群
|
Hallerman-Streiff Syndrome
|
Q87.0
|
|
|
12
|
Kabuki症候群
|
Kabuki syndrome
|
Q89.8
|
|
|
13
|
耳-齶-指（趾）症候群
|
Oto-Palato-Digital
syndrome
|
Q87.0
|
|
|
14
|
Conradi-Hunermann氏症候群
|
Conradi-Hunermann syndrome
|
Q77.3
|
|
|
15
|
Treacher Collins氏症候群
|
Treacher Collins Syndrome
|
Q75.4
|
|
|
16
|
Robinow氏症候群
|
Robinow Syndrome
|
Q87.1
|
|
|
17
|
Pfeiffer氏症候群
|
Pfeiffer syndrome
|
Q87.0
|
|
|
18
|
泛酸鹽激𡓨關聯之神經退化性疾病（移B27）
|
Pantothenate
Kinase Associated Neurodegeneration（PKAN）
|
G23.0
|
|
|
19
|
指（趾）甲髕骨症候群
|
Nail-Patella Syndrome
|
Q87.2
|
|
|
20
|
CFC症候群
|
Cardiofaciocutaneous Syndrome
|
Q87.89
|
|
|
21
|
Peters-Plus症候群
|
Peters-Plus syndrome
|
Q13.4
|
|
|
22
|
Nager症候群
|
Nager
Syndrome
|
Q75.4
|
|
|
23
|
CHARGE症候群
|
CHARGE
Syndrome
|
Q89.8
|
|
|
24
|
懷特-薩頓症候群
|
White-Sutton
syndrome
|
Q99.8
F84.8
F78
|
|
|
25
|
克斯提洛氏彈性蛋白缺陷症
|
Costello
syndrome
|
Q87.89
|
|
|
26
|
Ayme-Gripp症候群
|
Ayme-Gripp syndrome
|
Q87.89
|
|
|
27
|
Coffin-Lowry症候群
|
Coffin-Lowry
Syndrome
|
Q89.8
|
|
|
28
|
Myhre症候群
|
Myhre
syndrome
|
Q87.89
|
|
|
29
|
森森布倫納症候群
|
Sensenbrenner
Syndrome
|
Q87.5
|
|
|
30
|
克片-魯賓斯基症候群
|
Keppen-Lubinsky syndrome
|
E88.1
|
|
N 染色體異常
|
|
N1
|
01
|
Angelman氏症候群
|
Angelman syndrome
|
Q93.5
|
|
|
02
|
DiGeorge症候群
|
DiGeorge’s syndrome
|
D82.1
|
|
|
03
|
Prader-Willi氏症候群
|
Prader-Willi syndrome
|
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）
|
WAGR syndrome（Wilms’
tumor-Aniridia-Genitourinary Anomalies-mental Retardation）
|
Q87.89
|
|
|
05
|
Miller Dieker 症候群
|
Miller Dieker syndrome
|
Q93.88
|
|
|
06
|
Rubinstein-Taybi氏症候群
|
Rubinstein-Taybi syndrome
|
Q87.2
|
|
|
07
|
威廉斯氏症候群
|
Williams Syndrome
|
Q93.89
|
|
|
08
|
Von Hippel–Lindau 症候群
|
Von Hippel–Lindau disease
|
Q85.8
|
|
|
09
|
Branchio-Oto-Renal
Syndrome（BOR Syndrome）
|
Branchio-Oto-Renal 症候群
（BOR 症候群）
|
Q87.89
|
|
Z 其他未分類或不明原因
|
|
Z1
|
01
|
Cockayne氏症候群
|
Cockayne syndrome
|
Q87.1
|
|
|
02
|
早老症
|
Hutchinson Gilford
progeria syndrome
|
E34.8
|
|
|
03
|
髮-肝-腸症候群
|
Tricho-hepato-enteric syndrome
|
Q89.7
|
|
|
04
|
Stargardt's氏症
|
Stargardt's disease
|
H35.50
|
|
|
05
|
隱匿性黃斑部失養症
|
Occult Macular Dystrophy；OMD
|
H35.50
|
|
|
06
|
萊伯氏先天性黑矇症
|
Leber Congenital Amaurosis
|
H35.50
|
|
|
|
|
|
|
|