ICD 10 總表

Chapter17:先天性畸形、變形與染色體異常
Congenital malformations, deformations, and chromosomal abnormalities
代碼 英/中文名稱
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
  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