Q

Q00 Anencephaly and similar malformations
無腦症及類似畸形
 Q000 Anencephaly
無腦症
 Q001 Craniorachischisis
顱骨脊椎裂畸形
 Q002 Iniencephaly
枕骨裂露腦畸形
Q01 Encephalocele
腦膨出症
 Q010 Frontal encephalocele
額部腦膨出症
 Q011 Nasofrontal encephalocele
鼻額部腦膨出症
 Q012 Occipital encephalocele
枕部腦膨出症
 Q018 Encephalocele of other sites
其他部位腦膨出症
 Q019 Encephalocele, unspecified
腦膨出症，未特定
Q02 Microcephaly
小頭症
Q03 Congenital hydrocephalus
先天性水腦症
 Q030 Malformations of aqueduct of Sylvius
Sylvius氏腦導水管畸形
 Q031 Atresia of foramina of Magendie and Luschka
Magendie 氏孔及Luschka氏孔閉鎖
 Q038 Other congenital hydrocephalus
其他先天性水腦症
 Q039 Congenital hydrocephalus, unspecified
先天性水腦症，未特定
Q04 Other congenital malformations of brain
腦其他先天性畸形
 Q040 Congenital malformations of corpus callosum
胼胝體先天性畸形
 Q041 Arhinencephaly
無嗅腦症
 Q042 Holoprosencephaly
全前腦症
 Q043 Other reduction deformities of brain
腦其他短缺畸形
 Q044 Septo-optic dysplasia of brain
中隔－眼發育不良
 Q045 Megalencephaly
巨腦症
 Q046 Congenital cerebral cysts
先天性腦囊腫
 Q048 Other specified congenital malformations of brain
腦其他特定的先天性畸形
 Q049 Congenital malformation of brain, unspecified
腦先天性畸形，未特定
Q05 Spina bifida
脊椎裂
 Q050 Cervical spina bifida with hydrocephalus
頸椎裂伴有水腦症
 Q051 Thoracic spina bifida with hydrocephalus
胸椎裂伴有水腦症
 Q052 Lumbar spina bifida with hydrocephalus
腰椎裂伴有水腦症
 Q053 Sacral spina bifida with hydrocephalus
薦椎裂伴有水腦症
 Q054 Unspecified spina bifida with hydrocephalus
脊椎裂伴有水腦症
 Q055 Cervical spina bifida without hydrocephalus
頸椎裂未伴有水腦症
 Q056 Thoracic spina bifida without hydrocephalus
胸椎裂未伴有水腦症
 Q057 Lumbar spina bifida without hydrocephalus
腰椎裂未伴有水腦症
 Q058 Sacral spina bifida without hydrocephalus
薦椎裂未伴有水腦症
 Q059 Spina bifida, unspecified
脊椎裂，未特定
Q06 Other congenital malformations of spinal cord
脊髓其他先天性畸形
 Q060 Amyelia
無脊髓
 Q061 Hypoplasia and dysplasia of spinal cord
脊髓發育不全及發育不良
 Q062 Diastematomyelia
脊髓裂
 Q063 Other congenital cauda equina malformations
其他先天性脊髓尾畸形
 Q064 Hydromyelia
脊髓積水
 Q068 Other specified congenital malformations of spinal cord
脊髓其他特定的先天性畸形
 Q069 Congenital malformation of spinal cord, unspecified
脊髓先天性畸形，未特定
Q07 Other congenital malformations of nervous system
神經系統其他先天性畸形
 Q070 Arnold-Chiari syndrome
Arnold-Chiari 症候群
  Q0700 Arnold-Chiari syndrome without spina bifida or hydrocephalus
Arnold-Chiari 症候群未伴有脊椎裂或水腦症
  Q0701 Arnold-Chiari syndrome with spina bifida
Arnold-Chiari 症候群伴有脊椎裂
  Q0702 Arnold-Chiari syndrome with hydrocephalus
Arnold-Chiari 症候群伴有水腦症
  Q0703 Arnold-Chiari syndrome with spina bifida and hydrocephalus
Arnold-Chiari症候群伴有脊椎裂或水腦症
 Q078 Other specified congenital malformations of nervous system
神經系統其他特定的先天性畸形
 Q079 Congenital malformation of nervous system, unspecified
神經系統先天性畸形，未特定
Q10 Congenital malformations of eyelid, lacrimal apparatus and orbit
眼瞼、淚器和眼窩先天性畸形
 Q100 Congenital ptosis
先天性眼瞼下垂
 Q101 Congenital ectropion
先天性眼瞼外翻
 Q102 Congenital entropion
先天性眼瞼內翻
 Q103 Other congenital malformations of eyelid
眼瞼其他先天性畸形
 Q104 Absence and agenesis of lacrimal apparatus
淚器缺損及發育不全
 Q105 Congenital stenosis and stricture of lacrimal duct
淚管先天性狹窄
 Q106 Other congenital malformations of lacrimal apparatus
淚器其他先天性畸形
 Q107 Congenital malformation of orbit
眼窩先天性畸形
Q11 Anophthalmos, microphthalmos and macrophthalmos
無眼症、小眼畸形及巨眼畸形
 Q110 Cystic eyeball
眼球囊腫
 Q111 Other anophthalmos
其他無眼症
 Q112 Microphthalmos
小眼畸形
 Q113 Macrophthalmos
巨眼畸形
Q12 Congenital lens malformations
先天性水晶體畸形
 Q120 Congenital cataract
先天性白內障
 Q121 Congenital displaced lens
先天性水晶體移位
 Q122 Coloboma of lens
水晶體缺損
 Q123 Congenital aphakia
先天性無水晶體
 Q124 Spherophakia
球形水晶體
 Q128 Other congenital lens malformations
其他先天性水晶體畸形
 Q129 Congenital lens malformation, unspecified
先天性水晶體畸形，未特定
Q13 Congenital malformations of anterior segment of eye
前段眼先天性畸形
 Q130 Coloboma of iris
虹膜缺損
 Q131 Absence of iris
無虹膜
 Q132 Other congenital malformations of iris
虹膜其他先天性畸形
 Q133 Congenital corneal opacity
先天性角膜混濁
 Q134 Other congenital corneal malformations
其他先天性角膜畸形
 Q135 Blue sclera
藍鞏膜
 Q138 Other congenital malformations of anterior segment of eye
前段眼其他先天性畸形
  Q1381 Rieger's anomaly
Rieger氏畸形
  Q1389 Other congenital malformations of anterior segment of eye
前段眼其他先天性畸形
 Q139 Congenital malformation of anterior segment of eye, unspecified
前段眼先天性畸形，未特定
Q14 Congenital malformations of posterior segment of eye
後段眼先天性畸形
 Q140 Congenital malformation of vitreous humor
玻璃體先天性畸形
 Q141 Congenital malformation of retina
視網膜先天性畸形
 Q142 Congenital malformation of optic disc
視盤先天性畸形
 Q143 Congenital malformation of choroid
脈絡膜先天性畸形
 Q148 Other congenital malformations of posterior segment of eye
後段眼其他先天性畸形
 Q149 Congenital malformation of posterior segment of eye, unspecified
後段眼先天性畸形，未特定
Q15 Other congenital malformations of eye
眼其他先天性畸形
 Q150 Congenital glaucoma
先天性青光眼
 Q158 Other specified congenital malformations of eye
眼其他特定的先天性畸形
 Q159 Congenital malformation of eye, unspecified
眼先天性畸形，未特定
Q16 Congenital malformations of ear causing impairment of hearing
導致聽覺損傷的耳先天性畸形
 Q160 Congenital absence of (ear) auricle
先天性耳廓缺損
 Q161 Congenital absence, atresia and stricture of auditory canal (external)
(外)耳道先天性缺損、閉鎖及狹窄
 Q162 Absence of eustachian tube
歐氏管缺損
 Q163 Congenital malformation of ear ossicles
聽小骨先天性畸形
 Q164 Other congenital malformations of middle ear
中耳其他先天性畸形
 Q165 Congenital malformation of inner ear
內耳先天性畸形
 Q169 Congenital malformation of ear causing impairment of hearing, unspecified
導致聽覺損傷的耳先天性畸形，未特定
Q17 Other congenital malformations of ear
耳其他先天性畸形
 Q170 Accessory auricle
副耳廓
 Q171 Macrotia
巨耳
 Q172 Microtia
小耳
 Q173 Other misshapen ear
其他造形異常耳
 Q174 Misplaced ear
錯置耳
 Q175 Prominent ear
凸耳
 Q178 Other specified congenital malformations of ear
其他特定的耳先天性畸形
 Q179 Congenital malformation of ear, unspecified
耳先天性畸形，未特定
Q18 Other congenital malformations of face and neck
顏面及頸其他先天性畸形
 Q180 Sinus, fistula and cyst of branchial cleft
鰓裂竇、瘻管及囊腫
 Q181 Preauricular sinus and cyst
耳前竇及囊腫
 Q182 Other branchial cleft malformations
其他鰓裂畸形
 Q183 Webbing of neck
頸蹼
 Q184 Macrostomia
巨口
 Q185 Microstomia
小口
 Q186 Macrocheilia
巨唇
 Q187 Microcheilia
小唇
 Q188 Other specified congenital malformations of face and neck
顏面及頸其他特定的先天性畸形
 Q189 Congenital malformation of face and neck, unspecified
顏面及頸先天性畸形，未特定
Q20 Congenital malformations of cardiac chambers and connections
心臟腔室及連接處先天性畸形
 Q200 Common arterial trunk
共同動脈幹
 Q201 Double outlet right ventricle
右心室雙重出口
 Q202 Double outlet left ventricle
左心室雙重出口
 Q203 Discordant ventriculoarterial connection
心室動脈連結異常
 Q204 Double inlet ventricle
心室雙重入口
 Q205 Discordant atrioventricular connection
不一致的房室連結
 Q206 Isomerism of atrial appendages
心房同位症
 Q208 Other congenital malformations of cardiac chambers and connections
心臟腔室及連接處的其他先天性畸形
 Q209 Congenital malformation of cardiac chambers and connections, unspecified
心臟腔室及連接處先天性畸形，未特定
Q21 Congenital malformations of cardiac septa
心臟中隔先天性畸形
 Q210 Ventricular septal defect
心室中隔缺損
 Q211 Atrial septal defect
心房中隔缺損
 Q212 Atrioventricular septal defect
心內膜墊缺損
 Q213 Tetralogy of Fallot
法洛氏四重症
 Q214 Aortopulmonary septal defect
主動脈及肺動脈中隔缺損
 Q218 Other congenital malformations of cardiac septa
心臟中隔其他先天性畸形
 Q219 Congenital malformation of cardiac septum, unspecified
心臟中隔先天性畸形，未特定
Q22 Congenital malformations of pulmonary and tricuspid valves
肺動脈瓣及三尖瓣先天性畸形
 Q220 Pulmonary valve atresia
肺動脈瓣閉鎖
 Q221 Congenital pulmonary valve stenosis
先天性肺動脈瓣狹窄
 Q222 Congenital pulmonary valve insufficiency
先天性肺動脈瓣閉鎖不全
 Q223 Other congenital malformations of pulmonary valve
其他先天性肺動脈瓣畸形
 Q224 Congenital tricuspid stenosis
先天性三尖瓣狹窄
 Q225 Ebstein's anomaly
Ebstein氏畸形
 Q226 Hypoplastic right heart syndrome
右心發育不全徵候群
 Q228 Other congenital malformations of tricuspid valve
其他先天性三尖瓣畸形
 Q229 Congenital malformation of tricuspid valve, unspecified
先天性三尖瓣畸形，未特定
Q23 Congenital malformations of aortic and mitral valves
主動脈及二尖瓣先天性畸形
 Q230 Congenital stenosis of aortic valve
先天性主動脈瓣狹窄
 Q231 Congenital insufficiency of aortic valve
先天性主動脈瓣閉鎖不全
 Q232 Congenital mitral stenosis
先天性二尖瓣狹窄
 Q233 Congenital mitral insufficiency
先天性二尖瓣閉鎖不全
 Q234 Hypoplastic left heart syndrome
左心發育不全徵候群
 Q238 Other congenital malformations of aortic and mitral valves
其他主動脈及二尖瓣先天性畸形
 Q239 Congenital malformation of aortic and mitral valves, unspecified
主動脈及二尖瓣先天性畸形 ，未特定
Q24 Other congenital malformations of heart
心臟其他先天性畸形
 Q240 Dextrocardia
右位心
 Q241 Levocardia
左位心
 Q242 Cor triatriatum
三腔室心臟
 Q243 Pulmonary infundibular stenosis
肺動脈漏斗狀狹窄
 Q244 Congenital subaortic stenosis
主動脈瓣下狹窄
 Q245 Malformation of coronary vessels
冠狀動脈畸形
 Q246 Congenital heart block
先天性心臟傳導阻斷
 Q248 Other specified congenital malformations of heart
心臟其他特定的先天性畸形
 Q249 Congenital malformation of heart, unspecified
心臟未特定之先天性畸形，未特定
Q25 Congenital malformations of great arteries
大動脈先天性畸形
 Q250 Patent ductus arteriosus
開放性動脈導管
 Q251 Coarctation of aorta
主動脈縮窄
 Q252 Atresia of aorta
主動脈閉鎖
 Q253 Supravalvular aortic stenosis
瓣膜上主動脈狹窄
 Q254 Other congenital malformations of aorta
主動脈其他先天性畸形
 Q255 Atresia of pulmonary artery
肺動脈閉鎖
 Q256 Stenosis of pulmonary artery
肺動脈狹窄
 Q257 Other congenital malformations of pulmonary artery
肺動脈其他先天性畸形
 Q258 Other congenital malformations of other great arteries
大動脈其他先天性畸形
 Q259 Congenital malformation of great arteries, unspecified
大動脈先天性畸形，未特定
Q26 Congenital malformations of great veins
大靜脈先天性畸形
 Q260 Congenital stenosis of vena cava
腔靜脈先天性狹窄
 Q261 Persistent left superior vena cava
持續性左上腔靜脈殘留
 Q262 Total anomalous pulmonary venous connection
肺靜脈連接處全部異常
 Q263 Partial anomalous pulmonary venous connection
肺靜脈連接處部份異常
 Q264 Anomalous pulmonary venous connection, unspecified
肺靜脈連接處異常，未特定
 Q265 Anomalous portal venous connection
門靜脈連接處異常
 Q266 Portal vein-hepatic artery fistula
門靜脈－肝動脈瘻管
 Q268 Other congenital malformations of great veins
其他大靜脈畸形
 Q269 Congenital malformation of great vein, unspecified
大靜脈畸形，未特定
Q27 Other congenital malformations of peripheral vascular system
周邊血管系統之其他先天性畸形
 Q270 Congenital absence and hypoplasia of umbilical artery
先天性臍動脈缺乏或形成不全
 Q271 Congenital renal artery stenosis
先天性腎動脈狹窄
 Q272 Other congenital malformations of renal artery
腎動脈其他畸形
 Q273 Arteriovenous malformation (peripheral)
動靜脈畸形(周邊)
  Q2730 Arteriovenous malformation, site unspecified
未特定之動靜脈畸形
  Q2731 Arteriovenous malformation of vessel of upper limb
上肢動靜脈畸形
  Q2732 Arteriovenous malformation of vessel of lower limb
下肢動靜脈畸形
  Q2733 Arteriovenous malformation of digestive system vessel
消化系統動靜脈畸形
  Q2734 Arteriovenous malformation of renal vessel
腎血管動靜脈畸形
  Q2739 Arteriovenous malformation, other site
其他部位動靜脈畸形
 Q274 Congenital phlebectasia
先天性靜脈擴張
 Q278 Other specified congenital malformations of peripheral vascular system
周邊血管系統其他特定之先天性畸 形
 Q279 Congenital malformation of peripheral vascular system, unspecified
周邊血管系統之先天性畸形
，未特定
Q28 Other congenital malformations of circulatory system
循環系統其他先天性畸形
 Q280 Arteriovenous malformation of precerebral vessels
腦前血管動靜脈畸形
 Q281 Other malformations of precerebral vessels
腦前血管其他畸形
 Q282 Arteriovenous malformation of cerebral vessels
腦血管動靜脈畸形
 Q283 Other malformations of cerebral vessels
大腦血管其他畸形
 Q288 Other specified congenital malformations of circulatory system
循環系統其他特定的先天性畸形
 Q289 Congenital malformation of circulatory system, unspecified
循環系統先天性畸形，未特定
Q30 Congenital malformations of nose
鼻先天性畸形
 Q300 Choanal atresia
後鼻孔閉鎖症
 Q301 Agenesis and underdevelopment of nose
鼻生成不良及發育不全
 Q302 Fissured, notched and cleft nose
鼻裂隙、切迹及裂開
 Q303 Congenital perforated nasal septum
先天性鼻中隔穿孔
 Q308 Other congenital malformations of nose
其他先天性鼻畸形
 Q309 Congenital malformation of nose, unspecified
鼻先天性畸形，未特定
Q31 Congenital malformations of larynx
喉先天性畸形
 Q310 Web of larynx
喉部蹼翼
 Q311 Congenital subglottic stenosis
先天性聲門下狹窄
 Q312 Laryngeal hypoplasia
喉發育不全
 Q313 Laryngocele
喉膨出
 Q315 Congenital laryngomalacia
先天性喉軟化
 Q318 Other congenital malformations of larynx
喉其他先天性畸形
 Q319 Congenital malformation of larynx, unspecified
喉先天性畸形，未特定
Q32 Congenital malformations of trachea and bronchus
氣管和支氣管先天性畸形
 Q320 Congenital tracheomalacia
先天性氣管軟化
 Q321 Other congenital malformations of trachea
氣管其他先天性畸形
 Q322 Congenital bronchomalacia
先天性支氣管軟化
 Q323 Congenital stenosis of bronchus
支氣管先天性狹窄
 Q324 Other congenital malformations of bronchus
支氣管其他先天性畸形
Q33 Congenital malformations of lung
先天性肺畸形
 Q330 Congenital cystic lung
先天性肺囊腫
 Q331 Accessory lobe of lung
肺副葉
 Q332 Sequestration of lung
肺分離
 Q333 Agenesis of lung
肺發育不全
 Q334 Congenital bronchiectasis
先天性支氣管擴張
 Q335 Ectopic tissue in lung
肺中異位組織
 Q336 Congenital hypoplasia and dysplasia of lung
先天性肺形成不全及發育不良
 Q338 Other congenital malformations of lung
肺之其他畸形
 Q339 Congenital malformation of lung, unspecified
先天性之肺畸形，未特定
Q34 Other congenital malformations of respiratory system
呼吸系統之其他先天性畸形
 Q340 Anomaly of pleura
肋膜畸形
 Q341 Congenital cyst of mediastinum
縱隔先天性囊腫
 Q348 Other specified congenital malformations of respiratory system
呼吸系統其他特定的先天性畸形
 Q349 Congenital malformation of respiratory system, unspecified
呼吸系統先天性畸形，未特定
Q35 Cleft palate
腭裂
 Q351 Cleft hard palate
硬腭裂
 Q353 Cleft soft palate
軟腭裂
 Q355 Cleft hard palate with cleft soft palate
硬腭裂伴有軟腭裂
 Q357 Cleft uvula
懸壅垂裂
 Q359 Cleft palate, unspecified
腭裂，未特定
Q36 Cleft lip
唇裂
 Q360 Cleft lip, bilateral
雙側唇裂
 Q361 Cleft lip, median
中線唇裂
 Q369 Cleft lip, unilateral
單側唇裂
Q37 Cleft palate with cleft lip
腭裂伴有唇裂
 Q370 Cleft hard palate with bilateral cleft lip
硬腭裂伴有雙側唇裂
 Q371 Cleft hard palate with unilateral cleft lip
硬腭裂伴有單側唇裂
 Q372 Cleft soft palate with bilateral cleft lip
軟腭裂伴有雙側唇裂
 Q373 Cleft soft palate with unilateral cleft lip
軟腭裂伴有單側唇裂
 Q374 Cleft hard and soft palate with bilateral cleft lip
硬腭裂及軟腭裂伴有雙側唇裂
 Q375 Cleft hard and soft palate with unilateral cleft lip
硬腭裂及軟腭裂伴有單側唇裂
 Q378 Unspecified cleft palate with bilateral cleft lip
未特定腭裂伴有雙側唇裂
 Q379 Unspecified cleft palate with unilateral cleft lip
未特定腭裂伴有單側唇裂
Q38 Other congenital malformations of tongue, mouth and pharynx
舌、口腔及咽其他先天性畸形
 Q380 Congenital malformations of lips, not elsewhere classified
唇先天性畸形，他處未歸類者
 Q381 Ankyloglossia
舌黏連
 Q382 Macroglossia
巨舌
 Q383 Other congenital malformations of tongue
舌其他先天性畸形
 Q384 Congenital malformations of salivary glands and ducts
唾液腺及唾管先天性畸形
 Q385 Congenital malformations of palate, not elsewhere classified
腭先天性畸形，他處未歸類者
 Q386 Other congenital malformations of mouth
口腔其他先天性畸形
 Q387 Congenital pharyngeal pouch
先天性咽囊
 Q388 Other congenital malformations of pharynx
咽其他先天性畸形
Q39 Congenital malformations of esophagus
食道先天性畸形
 Q390 Atresia of esophagus without fistula
食道閉鎖未伴有瘻管
 Q391 Atresia of esophagus with tracheo-esophageal fistula
食道閉鎖伴有氣管－食道瘻管
 Q392 Congenital tracheo-esophageal fistula without atresia
先天性氣管－食道瘻管未伴有閉鎖
 Q393 Congenital stenosis and stricture of esophagus
食道先天性狹窄及縮窄
 Q394 Esophageal web
食道蹼
 Q395 Congenital dilatation of esophagus
食道先天性擴張
 Q396 Congenital diverticulum of esophagus
食道先天性憩室
 Q398 Other congenital malformations of esophagus
食道其他先天性畸形
 Q399 Congenital malformation of esophagus, unspecified
食道先天性畸形，未特定
Q40 Other congenital malformations of upper alimentary tract
上消化道其他先天性畸形
 Q400 Congenital hypertrophic pyloric stenosis
先天性肥大性幽門狹窄
 Q401 Congenital hiatus hernia
先天性裂孔疝氣
 Q402 Other specified congenital malformations of stomach
胃其他特定先天性畸形
 Q403 Congenital malformation of stomach, unspecified
胃先天性畸形，未特定
 Q408 Other specified congenital malformations of upper alimentary tract
上消化道其他特定之先天性畸形
 Q409 Congenital malformation of upper alimentary tract, unspecified
上消化道先天性畸形，未特定
Q41 Congenital absence, atresia and stenosis of small intestine
小腸先天性缺損、閉鎖及狹窄
 Q410 Congenital absence, atresia and stenosis of duodenum
十二指腸先天性缺損、閉鎖及狹窄
 Q411 Congenital absence, atresia and stenosis of jejunum
空腸先天性缺損、閉鎖及狹窄
 Q412 Congenital absence, atresia and stenosis of ileum
迴腸先天性缺損、閉鎖及狹窄
 Q418 Congenital absence, atresia and stenosis of other specified parts of small intestine
小腸其他特定部位的先天性缺損、閉鎖及狹窄
 Q419 Congenital absence, atresia and stenosis of small intestine, part unspecified
部位未特定之小腸先天性缺損、閉鎖及狹窄
Q42 Congenital absence, atresia and stenosis of large intestine
大腸先天性缺損、閉鎖及狹窄
 Q420 Congenital absence, atresia and stenosis of rectum with fistula
直腸先天性缺損、閉鎖及狹窄，伴有瘻管
 Q421 Congenital absence, atresia and stenosis of rectum without fistula
直腸先天性缺損、閉鎖及狹窄，未伴有瘻管
 Q422 Congenital absence, atresia and stenosis of anus with fistula
肛門缺損、閉鎖及狹窄，伴有瘻管
 Q423 Congenital absence, atresia and stenosis of anus without fistula
肛門缺損、閉鎖及狹窄，未伴有瘻管
 Q428 Congenital absence, atresia and stenosis of other parts of large intestine
大腸其他部位先天性缺損、閉鎖及狹窄
 Q429 Congenital absence, atresia and stenosis of large intestine, part unspecified
大腸先天性缺損、閉鎖及狹窄，部位未特定者
Q43 Other congenital malformations of intestine
腸其他先天性畸形
 Q430 Meckel's diverticulum (displaced) (hypertrophic)
Meckel 氏憩室(易位)(過度肥大)
 Q431 Hirschsprung's disease
Hirschsprung氏症
 Q432 Other congenital functional disorders of colon
結腸其他先天性功能性疾患
 Q433 Congenital malformations of intestinal fixation
先天性腸固定畸形
 Q434 Duplication of intestine
雙套腸
 Q435 Ectopic anus
異位肛門
 Q436 Congenital fistula of rectum and anus
直腸及肛門先天性瘻管
 Q437 Persistent cloaca
泄殖腔殘存
 Q438 Other specified congenital malformations of intestine
腸其他特定的先天性畸形
 Q439 Congenital malformation of intestine, unspecified
腸先天性畸形，未特定
Q44 Congenital malformations of gallbladder, bile ducts and liver
膽囊、膽道及肝先天性畸形
 Q440 Agenesis, aplasia and hypoplasia of gallbladder
膽囊生成不良、發育不良及發育不全
 Q441 Other congenital malformations of gallbladder
膽囊其他先天性畸形
 Q442 Atresia of bile ducts
膽道閉鎖
 Q443 Congenital stenosis and stricture of bile ducts
膽道先天性狹窄及縮窄
 Q444 Choledochal cyst
總膽管囊腫
 Q445 Other congenital malformations of bile ducts
膽道其他先天性畸形
 Q446 Cystic disease of liver
肝囊腫性疾病
 Q447 Other congenital malformations of liver
肝其他先天性畸形
Q45 Other congenital malformations of digestive system
消化系統其他先天性畸形
 Q450 Agenesis, aplasia and hypoplasia of pancreas
胰生成不良、發育不良及發育不全
 Q451 Annular pancreas
環狀胰
 Q452 Congenital pancreatic cyst
先天性胰囊腫
 Q453 Other congenital malformations of pancreas and pancreatic duct
胰及胰管其他先天性畸形
 Q458 Other specified congenital malformations of digestive system
消化系統其他特定的先天性畸形
 Q459 Congenital malformation of digestive system, unspecified
消化系統先天性畸形，未特定
Q50 Congenital malformations of ovaries, fallopian tubes and broad ligaments
輸卵管及子宮闊韌帶先天性畸形
 Q500 Congenital absence of ovary
先天性卵巢缺損
  Q5001 Congenital absence of ovary, unilateral
字尾加上",未特定"
  Q5002 Congenital absence of ovary, bilateral
雙側先天性卵巢缺損
 Q501 Developmental ovarian cyst
發育性卵巢囊腫
 Q502 Congenital torsion of ovary
卵巢先天性扭轉
 Q503 Other congenital malformations of ovary
卵巢其他先天性畸形
  Q5031 Accessory ovary
副卵巢
  Q5032 Ovarian streak
卵巢痕
  Q5039 Other congenital malformation of ovary
卵巢其他先天性畸形
 Q504 Embryonic cyst of fallopian tube
輸卵管胚囊
 Q505 Embryonic cyst of broad ligament
子宮闊靭帶胚囊
 Q506 Other congenital malformations of fallopian tube and broad ligament
輸卵管及子宮闊韌帶其他先天性畸形
Q51 Congenital malformations of uterus and cervix
子宮及子宮頸先天性畸形
 Q510 Agenesis and aplasia of uterus
子宮生成不良及發育不良
 Q511 Doubling of uterus with doubling of cervix and vagina
雙子宮伴有雙子宮頸及雙陰道
  Q5110 Doubling of uterus with doubling of cervix and vagina without obstruction
雙子宮伴有雙子宮頸及雙陰道未合併阻塞
  Q5111 Doubling of uterus with doubling of cervix and vagina with obstruction
雙子宮伴有雙子宮頸及雙陰道合併阻塞
 Q512 Other doubling of uterus
其他雙子宮
 Q513 Bicornate uterus
雙角子宮
 Q514 Unicornate uterus
單角子宮
 Q515 Agenesis and aplasia of cervix
子宮頸生成不良及發育不良
 Q516 Embryonic cyst of cervix
子宮頸胚囊
 Q517 Congenital fistulae between uterus and digestive and urinary tracts
子宮、消化道及泌尿道間的先天性瘻管
 Q518 Other congenital malformations of uterus and cervix
子宮及子宮頸其他先天性畸形
 Q519 Congenital malformation of uterus and cervix, unspecified
子宮及子宮頸先天性畸形，未特定
Q52 Other congenital malformations of female genitalia
女性生殖器其他先天性畸形
 Q520 Congenital absence of vagina
先天性陰道缺損
 Q521 Doubling of vagina
雙陰道
 Q522 Congenital rectovaginal fistula
先天性直腸陰道瘻管
 Q523 Imperforate hymen
處女膜閉鎖
 Q524 Other congenital malformations of vagina
陰道其他先天性畸形
 Q525 Fusion of labia
陰唇融合
 Q526 Congenital malformation of clitoris
陰蒂先天性畸形
 Q527 Other and unspecified congenital malformations of vulva
女性生殖器其他和未特定先天性畸形
  Q5270 Unspecified congenital malformations of vulva
外陰先天性畸形
  Q5271 Congenital absence of vulva
外陰先天性缺損
  Q5279 Other congenital malformations of vulva
外陰其他先天性缺損
 Q528 Other specified congenital malformations of female genitalia
女性生殖器其他特定的先天性畸形
 Q529 Congenital malformation of female genitalia, unspecified
女性生殖器先天性畸形，未特定
Q53 Undescended and ectopic testicle
隱睪及睪丸異位
 Q530 Ectopic testis
睪丸異位
  Q5300 Ectopic testis, unspecified
睪丸異位，未特定
  Q5301 Ectopic testis, unilateral
單側睪丸異位
  Q5302 Ectopic testes, bilateral
雙側睪丸異位
 Q531 Undescended testicle, unilateral
單側隱睪
  Q5310 Unspecified undescended testicle, unilateral
未特定單側隱睪
  Q5311 Abdominal testis, unilateral
單側腹式隱睪
  Q5312 Ectopic perineal testis, unilateral
單側會陰睪丸異位
 Q532 Undescended testicle, bilateral
雙側隱睪
  Q5320 Undescended testicle, unspecified, bilateral
雙側隱睪
  Q5321 Abdominal testis, bilateral
雙側腹式隱睪
  Q5322 Ectopic perineal testis, bilateral
雙側會陰睪丸異位
 Q539 Undescended testicle, unspecified
隱睪，未特定
Q54 Hypospadias
尿道下裂
 Q540 Hypospadias, balanic
龜頭的尿道下裂
 Q541 Hypospadias, penile
陰莖的尿道下裂
 Q542 Hypospadias, penoscrotal
陰莖陰囊的尿道下裂
 Q543 Hypospadias, perineal
會陰的尿道下裂
 Q544 Congenital chordee
先天性弓彎形陰莖
 Q548 Other hypospadias
其他尿道下裂
 Q549 Hypospadias, unspecified
尿道下裂，未特定
Q55 Other congenital malformations of male genital organs
男性生殖器其他先天性畸形
 Q550 Absence and aplasia of testis
睪丸缺損及發育不全
 Q551 Hypoplasia of testis and scrotum
睪丸及陰囊發育不良
 Q552 Other and unspecified congenital malformations of testis and scrotum
睪丸及陰囊先天性其他和未特定畸形
  Q5520 Unspecified congenital malformations of testis and scrotum
先天性睪丸及陰囊畸形
  Q5521 Polyorchism
多睪丸
  Q5522 Retractile testis
伸縮性睪丸
  Q5523 Scrotal transposition
陰囊轉位
  Q5529 Other congenital malformations of testis and scrotum
先天性睪丸或陰囊其他畸形
 Q553 Atresia of vas deferens
輸精管閉鎖
 Q554 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
先天性輸精管、副睪、精囊及前列腺其他畸形
 Q555 Congenital absence and aplasia of penis
先天性陰莖缺損及發育不全
 Q556 Other congenital malformations of penis
陰莖先天性其他畸形
  Q5561 Curvature of penis (lateral)
陰莖側向彎曲
  Q5562 Hypoplasia of penis
陰莖發育不良
  Q5569 Other congenital malformation of penis NOS
先天性陰莖其他畸形
 Q557 Congenital vasocutaneous fistula
先天性輸精管皮下廔管
 Q558 Other specified congenital malformations of male genital organs
先天性男性生殖器其他特定的畸形
 Q559 Congenital malformation of male genital organ, unspecified
先天性男性生殖器畸形，未特定
Q56 Indeterminate sex and pseudohermaphroditism
性別不明及假性陰陽人
 Q560 Hermaphroditism, not elsewhere classified
假性陰陽人，他處未歸類者
 Q561 Male pseudohermaphroditism, not elsewhere classified
男性假性陰陽人，他處未歸類者
 Q562 Female pseudohermaphroditism, not elsewhere classified
女性假性陰陽人，他處未歸類者
 Q563 Pseudohermaphroditism, unspecified
假性陰陽人，未特定
 Q564 Indeterminate sex, unspecified
性別不明，未特定
Q60 Renal agenesis and other reduction defects of kidney
腎無發育及腎其他縮減缺陷
 Q600 Renal agenesis, unilateral
單側腎無發育
 Q601 Renal agenesis, bilateral
雙側腎無發育
 Q602 Renal agenesis, unspecified
腎無發育，未特定
 Q603 Renal hypoplasia, unilateral
單側腎發育不良
 Q604 Renal hypoplasia, bilateral
雙側腎發育不良
 Q605 Renal hypoplasia, unspecified
腎發育不良，未特定
 Q606 Potter's syndrome
Potter氏症候群
Q61 Cystic kidney disease
腎囊腫性疾病
 Q610 Congenital renal cyst
先天性腎囊腫
  Q6100 Congenital renal cyst, unspecified
先天性腎囊腫，未特定
  Q6101 Congenital single renal cyst
先天性腎囊腫(單一)
  Q6102 Congenital multiple renal cysts
先天性囊性腎(多個)
 Q611 Polycystic kidney, infantile type
嬰兒型多囊腎
  Q6111 Cystic dilatation of collecting ducts
集尿管囊性擴張
  Q6119 Other polycystic kidney, infantile type
嬰兒型多囊腎
 Q612 Polycystic kidney, adult type
成人型多囊腎
 Q613 Polycystic kidney, unspecified
多囊腎，未特定
 Q614 Renal dysplasia
腎發育異常
 Q615 Medullary cystic kidney
腎髓質囊腫腎
 Q618 Other cystic kidney diseases
其他腎囊腫性疾病
 Q619 Cystic kidney disease, unspecified
腎囊腫性疾病，未特定
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
先天性腎盂阻塞缺陷及先天性輸尿管其他畸形
 Q620 Congenital hydronephrosis
先天性水腎
 Q621 Congenital occlusion of ureter
先天性輸尿管閉塞
  Q6210 Congenital occlusion of ureter, unspecified
先天性輸尿管閉塞，未特定
  Q6211 Congenital occlusion of ureteropelvic junction
先天性輸尿管腎盂結合處閉塞
  Q6212 Congenital occlusion of ureterovesical orifice
先天性輸尿管膀胱開口處閉塞
 Q622 Congenital megaureter
先天性巨輸尿管
 Q623 Other obstructive defects of renal pelvis and ureter
腎盂及輸尿管其他阻塞性缺陷
  Q6231 Congenital ureterocele, orthotopic
先天性輸尿管膨出
  Q6232 Cecoureterocele
盲腸輸尿管膨出
  Q6239 Other obstructive defects of renal pelvis and ureter
腎盂及輸尿管其他阻塞性缺陷
 Q624 Agenesis of ureter
輸尿管無發育
 Q625 Duplication of ureter
雙套輸尿管
 Q626 Malposition of ureter
輸尿管錯位
  Q6260 Malposition of ureter, unspecified
輸尿管錯位，未特定
  Q6261 Deviation of ureter
輸尿管偏移
  Q6262 Displacement of ureter
輸尿管移位
  Q6263 Anomalous implantation of ureter
輸尿管植入位置異常
  Q6269 Other malposition of ureter
其他輸尿管錯位
 Q627 Congenital vesico-uretero-renal reflux
先天性膀胱－輸尿管－腎逆流
 Q628 Other congenital malformations of ureter
先天性輸尿管其他畸形
Q63 Other congenital malformations of kidney
先天性腎其他畸形
 Q630 Accessory kidney
副腎
 Q631 Lobulated, fused and horseshoe kidney
分葉、融合及馬蹄形腎
 Q632 Ectopic kidney
異位腎
 Q633 Hyperplastic and giant kidney
增生殖性腎及巨腎
 Q638 Other specified congenital malformations of kidney
先天性腎其他特定的畸形
 Q639 Congenital malformation of kidney, unspecified
先天性腎畸形，未特定
Q64 Other congenital malformations of urinary system
先天性泌尿系統其他畸形
 Q640 Epispadias
尿道上裂
 Q641 Exstrophy of urinary bladder
膀胱外翻
  Q6410 Exstrophy of urinary bladder, unspecified
膀胱外翻，未特定
  Q6411 Supravesical fissure of urinary bladder
膀胱上裂
  Q6412 Cloacal extrophy of urinary bladder
泄殖腔之膀胱外翻
  Q6419 Other exstrophy of urinary bladder
其他膀胱外翻
 Q642 Congenital posterior urethral valves
先天性後尿道瓣膜
 Q643 Other atresia and stenosis of urethra and bladder neck
尿道及膀胱頸其他閉鎖及狹窄
  Q6431 Congenital bladder neck obstruction
先天性膀胱頸阻塞
  Q6432 Congenital stricture of urethra
先天性尿道狹窄
  Q6433 Congenital stricture of urinary meatus
先天性尿道口狹窄
  Q6439 Other atresia and stenosis of urethra and bladder neck
尿道及膀胱頸其他閉鎖及狹窄
 Q644 Malformation of urachus
臍尿管畸形
 Q645 Congenital absence of bladder and urethra
先天性膀胱及尿道缺損
 Q646 Congenital diverticulum of bladder
先天性膀胱憩室
 Q647 Other and unspecified congenital malformations of bladder and urethra
先天性膀胱及尿道其他和未特定畸形
  Q6470 Unspecified congenital malformation of bladder and urethra
未特定先天性膀胱及尿道畸形
  Q6471 Congenital prolapse of urethra
先天性尿道脫垂
  Q6472 Congenital prolapse of urinary meatus
先天性泌尿道口脫垂
  Q6473 Congenital urethrorectal fistula
先天性尿道直腸瘻管
  Q6474 Double urethra
雙尿道
  Q6475 Double urinary meatus
雙泌尿道口
  Q6479 Other congenital malformations of bladder and urethra
先天性膀胱及尿道其他畸形
 Q648 Other specified congenital malformations of urinary system
先天性泌尿系統其他特定的畸形
 Q649 Congenital malformation of urinary system, unspecified
先天性泌尿系統畸形，未特定
Q65 Congenital deformities of hip
先天性髖部變形
 Q650 Congenital dislocation of hip, unilateral
先天性單側髖部脫位
  Q6500 Congenital dislocation of hip, unilateral, unspecified side
先天性未特定側單側髖部脫位
  Q6501 Congenital dislocation of right hip
先天性右側髖部脫位
  Q6502 Congenital dislocation of left hip
先天性左側髖部脫位
 Q651 Congenital dislocation of hip, bilateral
先天性雙側髖部脫位
 Q652 Congenital dislocation of hip, unspecified
先天性髖部脫位，未特定
 Q653 Congenital partial dislocation of hip, unilateral
先天性單側髖部部分脫位
  Q6530 Congenital partial dislocation of hip, unilateral, unspecified side
先天性未特定側單側髖部部分脫位
  Q6531 Congenital partial dislocation of right hip
先天性右側髖部部分脫位
  Q6532 Congenital partial dislocation of left hip
先天性左側髖部部分脫位
 Q654 Congenital partial dislocation of hip, bilateral
先天性雙側髖部部分脫位
 Q655 Congenital partial dislocation of hip, unspecified
先天性髖部部分脫位，未特定
 Q656 Congenital unstable hip
先天性髖部不穩
 Q658 Other congenital deformities of hip
其他先天性髖部變形
 Q659 Congenital deformity of hip, unspecified
先天性髖部變形，未特定
Q66 Congenital deformities of feet
先天性足變形
 Q660 Congenital talipes equinovarus
先天性馬蹄內翻足
 Q661 Congenital talipes calcaneovarus
先天性跟骨內翻足
 Q662 Congenital metatarsus (primus) varus
先天性 (第一)蹠骨內翻
 Q663 Other congenital varus deformities of feet
其他先天性足內翻變形
 Q664 Congenital talipes calcaneovalgus
先天性跟骨外翻足
 Q665 Congenital pes planus
先天性扁平足
 Q666 Other congenital valgus deformities of feet
其他先天性足外翻變形
 Q667 Congenital pes cavus
先天性弓形足
 Q668 Other congenital deformities of feet
其他先天性足變形
 Q669 Congenital deformity of feet, unspecified
先天性足變形，未特定
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
頭、顏面、脊椎及胸之先天性肌肉骨骼變形
 Q670 Congenital facial asymmetry
先天性顏面不對稱
 Q671 Congenital compression facies
先天性扁臉
 Q672 Dolichocephaly
長頭
 Q673 Plagiocephaly
斜頭
 Q674 Other congenital deformities of skull, face and jaw
其他先天性顱骨、顏面及頷骨變形
 Q675 Congenital deformity of spine
先天性脊椎變形
 Q676 Pectus excavatum
漏斗胸
 Q677 Pectus carinatum
雞胸
 Q678 Other congenital deformities of chest
其他先天性胸部變形
Q68 Other congenital musculoskeletal deformities
先天性肌肉骨骼其他變形
 Q680 Congenital deformity of sternocleidomastoid muscle
先天性胸鎖乳突肌變形
 Q681 Congenital deformity of finger(s) and hand
先天性手指和手變形
 Q682 Congenital deformity of knee
先天性膝變形
 Q683 Congenital bowing of femur
先天性股骨弓形彎曲
 Q684 Congenital bowing of tibia and fibula
先天性脛骨及腓骨弓形彎曲
 Q685 Congenital bowing of long bones of leg, unspecified
先天性小腿長骨弓形彎曲，未特定
 Q686 Discoid meniscus
盤狀半月板異常
 Q688 Other specified congenital musculoskeletal deformities
其他特定的先天性肌肉骨骼變形
Q69 Polydactyly
多指[趾]
 Q690 Accessory finger(s)
副指
 Q691 Accessory thumb(s)
副姆指
 Q692 Accessory toe(s)
副趾
 Q699 Polydactyly, unspecified
多指[趾]，未特定
Q70 Syndactyly
併指[趾]
 Q700 Fused fingers
融合指
  Q7000 Fused fingers, unspecified fingers
未特定指融合指
  Q7001 Fused right fingers
右側融合指
  Q7002 Fused left fingers
左側融合指
  Q7003 Fused fingers, bilateral
雙側融合指
 Q701 Webbed fingers
蹼指
  Q7010 Webbed fingers, unspecified side
未特定側蹼指
  Q7011 Webbed right fingers
右側蹼指
  Q7012 Webbed left fingers
左側蹼指
  Q7013 Webbed fingers, bilateral
雙側蹼指
 Q702 Fused toes
腳趾融合
 Q703 Webbed toes
蹼趾
 Q704 Polysyndactyly
多指併指[趾]
 Q709 Syndactyly, unspecified
併指[趾]，未特定
Q71 Reduction defects of upper limb
先天性上肢完全缺損
 Q710 Congenital complete absence of upper limb
先天性僅存之手伴有上肢及前臂缺損
  Q7100 Congenital complete absence of upper limb, unspecified side
先天性未特定側上肢完全缺損
  Q7101 Congenital complete absence of right upper limb
先天性右側上肢完全缺損
  Q7102 Congenital complete absence of left upper limb
先天性左側上肢完全缺損
  Q7103 Congenital complete absence of upper limb, bilateral
先天性雙側上肢完全缺損
 Q711 Congenital absence of upper arm and forearm with hand present
先天性僅存之手伴有上肢及前臂缺損
  Q7110 Congenital absence of upper arm and forearm with hand present, unspecified side
先天性未特定側僅存之手伴有上肢及前臂缺損
  Q7111 Congenital absence of right upper arm and forearm with hand present
先天性右側僅存之手伴有上肢及前臂缺損
  Q7112 Congenital absence of left upper arm and forearm with hand present
先天性左側僅存之手伴有上肢及前臂缺損
  Q7113 Congenital absence of upper arm and forearm with hand present, bilateral
先天性雙側僅存之手伴有上肢及前臂缺損
 Q712 Congenital absence of both forearm and hand
先天性前臂及手缺損
  Q7120 Congenital absence of both forearm and hand, unspecified side
先天性未特定側前臂及手缺損
  Q7121 Congenital absence of both right forearm and hand
先天性右側前臂及手缺損
  Q7122 Congenital absence of both left forearm and hand
先天性左側前臂及手缺損
  Q7123 Congenital absence of both forearm and hand, bilateral
先天性雙側前臂及手皆有缺損
 Q713 Congenital absence of hand and finger
先天性手及手指缺損
  Q7130 Congenital absence of hand and finger, unspecified side
先天性未特定側手及手指缺損
  Q7131 Congenital absence of right hand and finger
先天性右側手及手指缺損
  Q7132 Congenital absence of left hand and finger
先天性左側手及手指缺損
  Q7133 Congenital absence of hand and finger, bilateral
先天性雙側手及手指缺損
 Q714 Longitudinal reduction defect of radius
橈骨縱行短縮缺陷
  Q7140 Longitudinal reduction defect of radius, unspecified side
未特定側橈骨縱行短縮缺陷
  Q7141 Longitudinal reduction defect of right radius
右側橈骨縱行短縮缺陷
  Q7142 Longitudinal reduction defect of left radius
左側橈骨縱行短縮缺陷
  Q7143 Longitudinal reduction defect of radius, bilateral
雙側橈骨縱行短縮缺陷
 Q715 Longitudinal reduction defect of ulna
尺骨縱行短縮缺陷
  Q7150 Longitudinal reduction defect of ulna, unspecified side
未特定側尺骨縱行短縮缺陷
  Q7151 Longitudinal reduction defect of right ulna
右側尺骨縱行短縮缺陷
  Q7152 Longitudinal reduction defect of left ulna
左側尺骨縱行短縮缺陷
  Q7153 Longitudinal reduction defect of ulna, bilateral
雙側尺骨縱行短縮缺陷
 Q716 Lobster-claw hand
龍蝦爪形手
  Q7160 Lobster-claw hand, unspecified side
未特定側龍蝦爪形手
  Q7161 Lobster-claw right hand
右側龍蝦爪形手
  Q7162 Lobster-claw left hand
左側龍蝦爪形手
  Q7163 Lobster-claw hand, bilateral
雙側龍蝦爪形手
 Q718 Other reduction defects of upper limb
龍蝦爪形手
  Q7180 Other reduction defects of upper limb, unspecified side
未特定側上肢其他短縮缺陷
  Q7181 Other reduction defects of right upper limb
右側上肢其他短縮缺陷
  Q7182 Other reduction defects of left upper limb
左側上肢其他短縮缺陷
  Q7183 Other reduction defects of upper limb, bilateral
雙側上肢其他短縮缺陷
 Q719 Reduction defect of upper limb, unspecified
上肢未特定短縮缺陷
  Q7190 Reduction defect of upper limb, unspecified, side unspecified
未特定側上肢未特定短縮缺陷
  Q7191 Reduction defect of right upper limb, unspecified
右側上肢未特定短縮缺陷，未特定
  Q7192 Reduction defect of left upper limb, unspecified
左側上肢未特定短縮缺陷，未特定
  Q7193 Reduction defect of upper limb, unspecified, bilateral
雙側上肢未特定短縮缺陷
Q72 Reduction defects of lower limb
先天性下肢完全缺損
 Q720 Congenital complete absence of lower limb
先天性下肢完全缺損
  Q7200 Congenital complete absence of lower limb, unspecified side
先天性未特定側下肢完全缺損
  Q7201 Congenital complete absence of right lower limb
先天性右側下肢完全缺損
  Q7202 Congenital complete absence of left lower limb
先天性左側下肢完全缺損
  Q7203 Congenital complete absence of lower limb, bilateral
先天性雙側下肢完全缺損
 Q721 Congenital absence of thigh and lower leg with foot present
先天性僅存之足伴有大腿及小腿缺損
  Q7210 Congenital absence of thigh and lower leg with foot present, unspecified side
先天性未特定側僅存之足伴有大腿及小腿缺損
  Q7211 Congenital absence of right thigh and lower leg with foot present
先天性僅存之足伴有右側大腿及小腿缺損
  Q7212 Congenital absence of left thigh and lower leg with foot present
先天性僅存之足伴有左側大腿及小腿缺損
  Q7213 Congenital absence of thigh and lower leg with foot present, bilateral
先天性僅存之足伴有雙側大腿及小腿缺損
 Q722 Congenital absence of both lower leg and foot
先天性小腿及足缺損
  Q7220 Congenital absence of both lower leg and foot, unspecified side
先天性未特定側小腿及足缺損
  Q7221 Congenital absence of both right lower leg and foot
先天性右側小腿及足缺損
  Q7222 Congenital absence of both left lower leg and foot
先天性左側小腿及足缺損
  Q7223 Congenital absence of both lower leg and foot, bilateral
先天性雙側小腿及足缺損
 Q723 Congenital absence of foot and toe(s)
先天性足及趾缺損
  Q7230 Congenital absence of foot and toe(s), unspecified side
先天性未特定側足及趾缺損
  Q7231 Congenital absence of right foot and toe(s)
先天性右側足及趾缺損
  Q7232 Congenital absence of left foot and toe(s)
先天性左側足及趾缺損
  Q7233 Congenital absence of foot and toe(s), bilateral
先天性雙側足及趾缺損
 Q724 Longitudinal reduction defect of femur
股骨縱行短縮缺陷
  Q7240 Longitudinal reduction defect of femur, unspecified side
未特定側股骨縱行短縮缺陷
  Q7241 Longitudinal reduction defect of right femur
右側股骨縱行短縮缺陷
  Q7242 Longitudinal reduction defect of left femur
左側股骨縱行短縮缺陷
  Q7243 Longitudinal reduction defect of femur, bilateral
雙側股骨縱行短縮缺陷
 Q725 Longitudinal reduction defect of tibia
脛骨縱行短縮缺陷
  Q7250 Longitudinal reduction defect of tibia, unspecified side
未特定側脛骨縱行短縮缺陷
  Q7251 Longitudinal reduction defect of right tibia
右側脛骨縱行短縮缺陷
  Q7252 Longitudinal reduction defect of left tibia
左側脛骨縱行短縮缺陷
  Q7253 Longitudinal reduction defect of tibia, bilateral
雙側脛骨縱行短縮缺陷
 Q726 Longitudinal reduction defect of fibula
腓骨縱行短縮缺陷
  Q7260 Longitudinal reduction defect of fibula, unspecified side
未特定側腓骨縱行短縮缺陷
  Q7261 Longitudinal reduction defect of right fibula
右側腓骨縱行短縮缺陷
  Q7262 Longitudinal reduction defect of left fibula
左側腓骨縱行短縮缺陷
  Q7263 Longitudinal reduction defect of fibula, bilateral
雙側腓骨縱行短縮缺陷
 Q727 Split foot
足裂
  Q7270 Split foot, unspecified side
未特定側足裂
  Q7271 Right split foot
右側足裂
  Q7272 Left split foot
左側足裂
  Q7273 Split foot, bilateral
雙側足裂
 Q728 Other reduction defects of lower limb
下肢其他短縮缺陷
  Q7280 Other reduction defects of lower limb, unspecified side
未特定側下肢其他短縮缺陷
  Q7281 Other reduction defects of right lower limb
右側下肢其他短縮缺陷
  Q7282 Other reduction defects of left lower limb
左側下肢其他短縮缺陷
  Q7283 Other reduction defects of lower limb, bilateral
雙側下肢其他短縮缺陷
 Q729 Reduction defect of lower limb, unspecified
下肢未特定短縮缺陷
  Q7290 Reduction defect of lower limb, unspecified, unspecified side
未特定側下肢未特定短縮缺陷
  Q7291 Reduction defect of right lower limb, unspecified
右側下肢短縮缺陷，未特定
  Q7292 Reduction defect of left lower limb, unspecified
左側下肢短縮缺陷，未特定
  Q7293 Reduction defect of lower limb, unspecified, bilateral
未特定雙側下肢短縮缺陷
Q73 Reduction defects of unspecified limb
未特定肢體短縮缺陷
 Q730 Congenital absence of unspecified limb(s)
先天性未特定肢體缺損
 Q731 Phocomelia, unspecified limb(s)
未特定肢體海豹肢
 Q738 Other reduction defects of unspecified limb(s)
未特定肢體其他短縮缺陷
Q74 Other congenital malformations of limb(s)
其他先天性肢體畸形
 Q740 Other congenital malformations of upper limb(s), including shoulder girdle
其他先天性含肩胛帶之上肢畸形
 Q741 Congenital malformation of knee
先天性膝部畸形
 Q742 Other congenital malformations of lower limb(s), including pelvic girdle
其他先天性含骨盆帶之下肢畸形
 Q743 Arthrogryposis multiplex congenita
先天性多重關節彎曲症
 Q748 Other specified congenital malformations of limb(s)
其他特定的先天性肢體畸形
 Q749 Unspecified congenital malformation of limb(s)
未特定先天性肢體畸形
Q75 Other congenital malformations of skull and face bones
其他先天性顱骨及顏面骨畸形
 Q750 Craniosynostosis
顱骨縫過早封閉
 Q751 Craniofacial dysostosis
顱顏面骨成骨不全
 Q752 Hypertelorism
眼距過寬
 Q753 Macrocephaly
巨頭
 Q754 Mandibulofacial dysostosis
下頷顏面骨成骨不全
 Q755 Oculomandibular dysostosis
眼下頷成骨不全
 Q758 Other specified congenital malformations of skull and face bones
其他特定的先天性顱骨及顏面骨畸形
 Q759 Congenital malformation of skull and face bones, unspecified
先天性顱骨及顏面骨畸形，未特定
Q76 Congenital malformations of spine and bony thorax
先天性脊椎及骨胸廓畸形
 Q760 Spina bifida occulta
隱性脊柱裂
 Q761 Klippel-Feil syndrome
Klippel-Feil症候群
 Q762 Congenital spondylolisthesis
先天性脊椎滑脫
 Q763 Congenital scoliosis due to congenital bony malformation
先天性骨畸形所致之先天性脊椎側彎
 Q764 Other congenital malformations of spine, not associated with scoliosis
其他先天性脊椎側彎無關者之脊椎畸形
  Q7641 Congenital kyphosis
先天性脊椎後彎
   Q76411 Congenital kyphosis, occipito-atlanto-axial region
先天性枕骨-寰-軸椎脊柱後彎
   Q76412 Congenital kyphosis, cervical region
先天性頸椎後彎
   Q76413 Congenital kyphosis, cervicothoracic region
先天性頸胸椎後彎
   Q76414 Congenital kyphosis, thoracic region
先天性胸椎後彎
   Q76415 Congenital kyphosis, thoracolumbar region
先天性胸腰椎後彎
   Q76419 Congenital kyphosis, unspecified region
先天性未特定脊椎後彎
  Q7642 Congenital lordosis
先天性脊椎前彎
   Q76425 Congenital lordosis, thoracolumbar region
先天性胸腰椎前彎
   Q76426 Congenital lordosis, lumbar region
先天性腰椎前彎
   Q76427 Congenital lordosis, lumbosacral region
先天性腰胝椎前彎
   Q76428 Congenital lordosis, sacral and sacrococcygeal region
先天性薦及薦胝椎前彎
   Q76429 Congenital lordosis, unspecified region
先天性未特定脊椎前彎
  Q7649 Other congenital malformations of spine, not associated with scoliosis
其他先天性脊椎側彎無關者之脊椎畸形
 Q765 Cervical rib
頸肋骨
 Q766 Other congenital malformations of ribs
其他先天性肋骨畸形
 Q767 Congenital malformation of sternum
先天性胸骨畸形
 Q768 Other congenital malformations of bony thorax
其他先天性骨胸廓畸形
 Q769 Congenital malformation of bony thorax, unspecified
先天性骨胸廓畸形，未特定
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
骨軟骨發育不良伴有管狀骨及脊椎生長缺陷
 Q770 Achondrogenesis
軟骨生成不良
 Q771 Thanatophoric short stature
致死性矮小
 Q772 Short rib syndrome
短肋症候群
 Q773 Chondrodysplasia punctata
點狀軟骨發育不良
 Q774 Achondroplasia
軟骨發育不良
 Q775 Diastrophic dysplasia
彎曲變型性發育不良
 Q776 Chondroectodermal dysplasia
軟骨外胚層發育不良
 Q777 Spondyloepiphyseal dysplasia
脊椎骨骺發育不良
 Q778 Other osteochondrodysplasia with defects of growth of tubular bones and spine
其他骨軟骨發育不良伴有管狀骨及脊椎生長缺陷
 Q779 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
骨軟骨發育不良伴有管狀骨及脊椎生長缺陷，未特定
Q78 Other osteochondrodysplasias
其他骨軟骨發育不良
 Q780 Osteogenesis imperfecta
成骨不全
 Q781 Polyostotic fibrous dysplasia
多骨性纖維發育不良
 Q782 Osteopetrosis
骨質石化症
 Q783 Progressive diaphyseal dysplasia
漸進性骨幹發育不良
 Q784 Enchondromatosis
內生軟骨瘤症
 Q785 Metaphyseal dysplasia
骨幹骺端發育不良
 Q786 Multiple congenital exostoses
先天性多發性外生骨贅
 Q788 Other specified osteochondrodysplasias
其他特定的骨軟骨發育不良
 Q789 Osteochondrodysplasia, unspecified
骨軟骨發育不良，未特定
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
先天性肌肉骨骼系統畸形，他處未歸類者
 Q790 Congenital diaphragmatic hernia
先天性橫膈疝氣
 Q791 Other congenital malformations of diaphragm
其他先天性橫膈膜畸形
 Q792 Exomphalos
臍膨出
 Q793 Gastroschisis
裂腹畸形
 Q794 Prune belly syndrome
梅腹症候群
 Q795 Other congenital malformations of abdominal wall
其他先天性腹壁畸形
  Q7951 Congenital hernia of bladder
先天性膀胱疝氣
  Q7959 Other congenital malformations of abdominal wall
其他先天性腹壁畸形
 Q796 Ehlers-Danlos syndrome
Ehlers-Danlos症候群
 Q798 Other congenital malformations of musculoskeletal system
其他先天性肌肉骨骼系統畸形
 Q799 Congenital malformation of musculoskeletal system, unspecified
先天性肌肉骨骼系統畸形，未特定
Q80 Congenital ichthyosis
先天性魚鱗癬
 Q800 Ichthyosis vulgaris
尋常魚鱗癬
 Q801 X-linked ichthyosis
X-性聯遺傳魚鱗癬
 Q802 Lamellar ichthyosis
層狀魚鱗癬
 Q803 Congenital bullous ichthyosiform erythroderma
先天性水疱性魚鱗癬狀紅皮症
 Q804 Harlequin fetus
斑色胎
 Q808 Other congenital ichthyosis
其他先天性魚鱗癬
 Q809 Congenital ichthyosis, unspecified
先天性魚鱗癬，未特定
Q81 Epidermolysis bullosa
水疱性表皮鬆解症
 Q810 Epidermolysis bullosa simplex
單純水疱性表皮鬆解症
 Q811 Epidermolysis bullosa letalis
致死性水疱性表皮鬆解症
 Q812 Epidermolysis bullosa dystrophica
失養性水疱性表皮鬆解症
 Q818 Other epidermolysis bullosa
其他水疱性表皮鬆解症
 Q819 Epidermolysis bullosa, unspecified
水疱性表皮鬆解症，未特定
Q82 Other congenital malformations of skin
皮膚其他先天性畸形
 Q820 Hereditary lymphedema
遺傳性淋巴水腫
 Q821 Xeroderma pigmentosum
色素性乾皮症
 Q822 Mastocytosis
肥大細胞增多症
 Q823 Incontinentia pigmenti
色素失調症
 Q824 Ectodermal dysplasia (anhidrotic)
(無汗性)皮膚外胚層發育不良
 Q825 Congenital non-neoplastic nevus
先天性非腫瘤性痣
 Q828 Other specified congenital malformations of skin
皮膚其他特定的先天性畸形
 Q829 Congenital malformation of skin, unspecified
皮膚先天性畸形，未特定
Q83 Congenital malformations of breast
乳房先天性畸形
 Q830 Congenital absence of breast with absent nipple
先天性乳房缺損伴有乳頭缺損
 Q831 Accessory breast
副乳
 Q832 Absent nipple
無乳頭
 Q833 Accessory nipple
副乳頭
 Q838 Other congenital malformations of breast
乳房其他先天性畸形
 Q839 Congenital malformation of breast, unspecified
乳房先天性畸形，未特定
Q84 Other congenital malformations of integument
體表其他先天性畸形
 Q840 Congenital alopecia
先天性禿
 Q841 Congenital morphological disturbances of hair, not elsewhere classified
毛髮先天性形態障礙，他處未歸類者
 Q842 Other congenital malformations of hair
毛髮其他先天性畸形
 Q843 Anonychia
無指[趾]甲症
 Q844 Congenital leukonychia
先天性指[趾]甲白斑症
 Q845 Enlarged and hypertrophic nails
腫大及增生的指[趾]甲
 Q846 Other congenital malformations of nails
指[趾]甲其他先天性畸形
 Q848 Other specified congenital malformations of integument
體表其他特定的先天性畸形
 Q849 Congenital malformation of integument, unspecified
皮膚先天性畸形，未特定
Q85 Phakomatoses, not elsewhere classified
斑痣性瘤症，他處未歸類者
 Q850 Neurofibromatosis (nonmalignant)
(非惡性)神經纖維瘤症
 Q851 Tuberous sclerosis
結節性硬化症
 Q858 Other phakomatoses, not elsewhere classified
其他斑痣性瘤症，他處未歸類者
 Q859 Phakomatosis, unspecified
斑痣性瘤症，未特定
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
已知外在原因所致之先天性畸形症候群，他處未歸類者
 Q860 Fetal alcohol syndrome (dysmorphic)
異形性胎兒酒精症候群
 Q861 Fetal hydantoin syndrome
胎兒內醯脲症候群
 Q862 Dysmorphism due to warfarin
Warfarin所致之異形
 Q868 Other congenital malformation syndromes due to known exogenous causes
已知外在原因所致之其他先天性畸形症候群
Q87 Other specified congenital malformation syndromes affecting multiple systems
影響多重系統其他特定的先天性畸形症候群
 Q870 Congenital malformation syndromes predominantly affecting facial appearance
影響顏面為主的先天性畸形症候群
 Q871 Congenital malformation syndromes predominantly associated with short stature
體型短小為主的先天性畸形症候群
 Q872 Congenital malformation syndromes predominantly involving limbs
涉及肢體為主的先天性畸形症候群
 Q873 Congenital malformation syndromes involving early overgrowth
涉及早期過度生長的先天性畸形症候群
 Q874 Marfan's syndrome
Marfan氏症候群
  Q8740 Marfan's syndrome, unspecified
Marfan氏症候群，未特定
  Q8741 Marfan's syndrome with cardiovascular manifestations
Marfan氏症候群伴有心血管病病徵
   Q87410 Marfan's syndrome with aortic dilation
Marfan氏症候群伴有主動脈擴張
   Q87418 Marfan's syndrome with other cardiovascular manifestations
Marfan氏症候群伴有心血管病病徵
  Q8742 Marfan's syndrome with ocular manifestations
Marfan氏症候群伴有眼部病徵
  Q8743 Marfan's syndrome with skeletal manifestation
Marfan氏症候群伴有骨骼病徵
 Q875 Other congenital malformation syndromes with other skeletal changes
其他先天性畸形症候群伴有其他骨骼變化
 Q878 Other specified congenital malformation syndromes, not elsewhere classified
其他特定的先天性畸形症候群，他處未歸類者
  Q8781 Alport syndrome
Alport氏症候群
  Q8789 Other specified congenital malformation syndromes, not elsewhere classified
其他特定的先天性畸形症候群，他處未歸類者
Q89 Other congenital malformations, not elsewhere classified
其他先天性畸形，他處未歸類者
 Q890 Congenital absence and malformations of spleen
先天性無脾及脾畸形
  Q8901 Asplenia (congenital)
(先天性)無脾
  Q8909 Congenital malformations of spleen
脾先天性畸形
 Q891 Congenital malformations of adrenal gland
腎上腺先天性畸形
 Q892 Congenital malformations of other endocrine glands
其他內分泌腺先天性畸形
 Q893 Situs inversus
內臟反位
 Q894 Conjoined twins
連體嬰
 Q897 Multiple congenital malformations, not elsewhere classified
多重性先天畸形，他處未歸類者
 Q898 Other specified congenital malformations
其他特定的先天性畸形
 Q899 Congenital malformation, unspecified
先天性畸形，未特定
Q90 Down syndrome
唐氏症
 Q900 Trisomy 21, nonmosaicism (meiotic nondisjunction)
第21號體染色體三條，非嵌合型(減數分裂不分離)
 Q901 Trisomy 21, mosaicism (mitotic nondisjunction)
第21號體染色體三條，嵌合型(有絲分裂不分離)
 Q902 Trisomy 21, translocation
第21號體染色體三條，轉位
 Q909 Down's syndrome, unspecified
唐氏症，未特定
Q91 Trisomy 18 and Trisomy 13
第18號體染色體及第13號體染色體
 Q910 Trisomy 18, nonmosaicism (meiotic nondisjunction)
第18號體染色體三條，非嵌合型(減數分裂不分離)
 Q911 Trisomy 18, mosaicism (mitotic nondisjunction)
第18號體染色體三條，嵌合型(有絲分裂不分離)
 Q912 Trisomy 18, translocation
第18號體染色體三條，轉位
 Q913 Trisomy 18, unspecified
第18號體染色體三條，未特定
 Q914 Trisomy 13, nonmosaicism (meiotic nondisjunction)
第13號體染色體三條，非嵌合型(減數分裂不分離)
 Q915 Trisomy 13, mosaicism (mitotic nondisjunction)
第13號體染色體三條，嵌合型(有絲分裂不分離)
 Q916 Trisomy 13, translocation
第13號體染色體三條，轉位
 Q917 Trisomy 13, unspecified
第13號體染色體三條，未特定
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
其他三條體染色體和部份三條體染色體，他處未歸類者
 Q920 Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)
全部體染色體三條，非嵌合型(減數分裂不分離)
 Q921 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
全部體染色體三條，嵌合型(有絲分裂不分離)
 Q922 Partial trisomy
部份染色體三條
 Q925 Duplications with other complex rearrangements
染色體重複伴有其他複雜性的重新排列
 Q926 Marker chromosomes
標記染色體
  Q9261 Marker chromosomes in normal individual
正常個體的標記染色體
  Q9262 Marker chromosomes in abnormal individual
異常個體的標記染色體
 Q927 Triploidy and polyploidy
三套染色體及多套染色體
 Q928 Other specified trisomies and partial trisomies of autosomes
其他特定的三條體染色體和部份三條體染色體
 Q929 Trisomy and partial trisomy of autosomes, unspecified
三條體染色體和部份三條體染色體，未特定
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
體染色體的單條及缺損，他處未歸類者
 Q930 Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction)
全部染色體單條，非嵌合型(減數分裂不分離)
 Q931 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
全部染色體單條，嵌合型(有絲分裂不分離)
 Q932 Chromosome replaced with ring, dicentric or isochromosome
環狀染色體、兩中心粒或等臂染色體
 Q933 Deletion of short arm of chromosome 4
第4號染色體短臂缺損
 Q934 Deletion of short arm of chromosome 5
第5號染色體短臂缺損
 Q935 Other deletions of part of a chromosome
其他部份染色體缺損
 Q937 Deletions with other complex rearrangements
染色體缺損伴有其他複雜性的重新排列
 Q938 Other deletions from the autosomes
體染色體其他缺損
  Q9381 Velo-cardio-facial syndrome
Velo-cardio-facial 症候群
  Q9388 Other microdeletions
其他微小缺損
  Q9389 Other deletions from the autosomes
體染色體其他缺損
 Q939 Deletion from autosomes, unspecified
體染色體缺損，未特定
Q95 Balanced rearrangements and structural markers, not elsewhere classified
平衡重新排列染色體及結構標誌，他處未歸類者
 Q950 Balanced translocation and insertion in normal individual
正常個體平衡轉位及嵌入
 Q951 Chromosome inversion in normal individual
正常個體體染色體倒轉
 Q952 Balanced autosomal rearrangement in abnormal individual
異常個體平衡的體染色體重新排列
 Q953 Balanced sex/autosomal rearrangement in abnormal individual
異常個體平衡的性∕體染色體重新排列
 Q955 Individual with autosomal fragile site
個體伴有體染色體脆折處
 Q958 Other balanced rearrangements and structural markers
其他平衡重新排列染色體及結構標記
 Q959 Balanced rearrangement and structural marker, unspecified
平衡重新排列染色體及結構標誌，未特定
Q96 Turner's syndrome
Turner氏症候群
 Q960 Karyotype 45, X
核型 45 X
 Q961 Karyotype 46, X iso (Xq)
核型 46 X iso(Xq)
 Q962 Karyotype 46, X with abnormal sex chromosome, except iso (Xq)
核型 46 X，伴有性染色體異常，iso(Xq)除外
 Q963 Mosaicism, 45, X/46, XX or XY
嵌合型，45 X∕46 XX或XY
 Q964 Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome
嵌合型，45 X∕其他細胞株伴有異常的性染色體
 Q968 Other variants of Turner's syndrome
Turner氏症候群其他變異型
 Q969 Turner's syndrome, unspecified
Turner氏症候群，未特定
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
其他性染色體異常，女性表現型，他處未歸類者
 Q970 Karyotype 47, XXX
核型 47 XXX
 Q971 Female with more than three X chromosomes
女性具有3個X以上染色體
 Q972 Mosaicism, lines with various numbers of X chromosomes
嵌合型，細胞株伴有不同數目的X-染色體
 Q973 Female with 46, XY karyotype
女性具有46 XY核型
 Q978 Other specified sex chromosome abnormalities, female phenotype
其他特定的性染色體異常，女性表現型
 Q979 Sex chromosome abnormality, female phenotype, unspecified
性染色體異常，女性表現型，未特定
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
其他性染色體異常，男性表現型，他處未歸類者
 Q980 Klinefelter syndrome karyotype 47, XXY
Klinefelter氏症候群，47 XXY核型
 Q981 Klinefelter syndrome, male with more than two X chromosomes
Klinefelter (氏)症候群、男性伴有多於兩個的X-染色體
 Q983 Other male with 46, XX karyotype
其他男性伴有46 XX核型
 Q984 Klinefelter syndrome, unspecified
Klinefelter (氏)症候群，未特定者，未特定
 Q985 Karyotype 47, XYY
47 XYY核型
 Q986 Male with structurally abnormal sex chromosome
男性伴有結構異常的性染色體
 Q987 Male with sex chromosome mosaicism
男性伴有性染色體嵌合型
 Q988 Other specified sex chromosome abnormalities, male phenotype
其他特定的性染色體異常，男性表現型
 Q989 Sex chromosome abnormality, male phenotype, unspecified
性染色體異常，男性表現型，未特定
Q99 Other chromosome abnormalities, not elsewhere classified
其他染色體異常，他處未歸類者
 Q990 Chimera 46, XX/46, XY
嵌合體46XX∕46XY
 Q991 46, XX true hermaphrodite
46 XX真性陰陽人
 Q992 Fragile X chromosome
X-染色體脆折症
 Q998 Other specified chromosome abnormalities
其他特定的染色體異常
 Q999 Chromosomal abnormality, unspecified
染色體異常，未特定