LD2F.1Y
其他特指的非环境引起的多发性结构异常综合征
Other specified syndromes with multiple structural anomalies, not of environmental origin
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- 其他特指的非环境引起的多发性结构异常综合征
- 46,XX性发育障碍-肛门直肠异常
- 46,XX DSD-肛门直肠异常
- Aarskog-Scott综合征
- Aarskog综合征
- 面-指-生殖器综合征
- 面生殖发育异常
- 面-指-生殖器综合征
- 阿-斯综合征
- Aarskog综合征
- 面发育不良-短身材-阴茎阴囊畸形综合征
- 无睑-大口畸形综合征
- 先天性眼睑缺损-大口畸形综合征
- 肢端-肾-下颌综合征
- 肢端胼胝体综合征
- 肢端胼胝体功能障碍综合征
- 肢端心颜面综合征
- 肢端-心-面综合征
- 尖头多指（趾）畸形
- 尖头多指（趾）发育不良
- Elejalde综合征
- 埃列贾德综合征
- 肢端肾综合征
- Adams-Oliver综合征
- 无性腺症-右位心-膈疝
- 丝状睑缘粘连-腭裂
- 先天性多发性关节挛缩症-无脑回畸形
- 先天性多发性关节挛缩症-光滑脑
- 常染色体显性遗传多囊肾病1型伴结节性硬化症
- 结节性硬化症/多囊肾病邻近基因综合征
- 分叉鼻畸形-肛肠和肾异常
- BNAR[分叉鼻畸形 - 肛管直肠和肾异常]综合征
- 睑裂狭小-智力缺陷综合征，Ohdo型
- Ohdo小睑裂综合征
- 小睑裂-智力缺陷综合征，Ohdo型
- Boissel致死性多畸形综合征
- 鳃裂-眼-面综合征
- 鳃裂-耳综合征
- 鳃裂-耳-肾综合征
- BOR[鳃裂-耳-肾]综合征
- 鳃裂-骨骼-生殖器综合征
- CAMFAK综合征
- CAMAK[白内障-小头畸形-关节挛缩症-脊柱后凸畸形]
- 白内障-小头畸形-关节挛缩症-脊柱后凸畸形
- 白内障-小头畸形-成长受阻-脊柱后凸畸形
- 屈曲指-高身材-脊柱侧凸-听力损失
- 手指屈曲畸形-高身材-脊柱侧凸-耳聋
- Cantrell五联征
- Cantrell五联征
- Cantrell综合征
- Cantrell 五联症
- Capra-DeMarco综合征
- 颅缝早闭-脑积水-Chiari畸形I型-桡尺关节融合
- Berant综合征
- 家族性舟状头畸形-桡尺关节融合
- 狭颅症-脑积水-Chiari畸形I型-尺桡关节连接
- 心脑综合征，Pfeiffer型
- 心骨骼综合征
- 心-手综合征
- 短指-长拇指综合征
- 心-手综合征1型
- Holt-Oram综合征
- 心-手综合征2型
- 心-手综合征3型
- 心-手综合征，西班牙型
- 心-手综合征，斯洛文尼亚型
- 小头畸形-面-心-骨骼综合征，Hadziselimovic型
- Carey-Fineman-Ziter综合征
- Catel-Manzke综合征
- 尾侧重复综合征
- 尾部退化综合征
- 骶骨发育不全
- 马尾退化综合征
- 骶椎发育不全
- 面部海绵状血管瘤-脐上中缝
- 三叶草型颅骨-多发先天性畸形
- Coffin-Lowry综合征
- 黄斑缺损-B型短指（短趾）
- 先天性白内障-面部畸形-神经病变
- Cornelia de Lange综合征
- 阿姆斯特丹侏儒症
- 德朗热综合征
- Costello综合征
- 颅-面-心-骨骼综合征
- Cantu综合征
- 颅缝早闭-肛门异常-汗孔角化症
- 狭颅症-肛门畸形-汗孔角化病
- 颅缝早闭-白内障
- 颅缝早闭-Dandy-Walker畸形-脑积水
- 颅缝早闭-融合-高血压肾病
- Currarino三联征
- Dandy Walker畸形-面部血管瘤
- 耳聋-耳畸形-面瘫
- 耳聋-耳畸形-面神经麻痹
- 双子宫-半阴道-肾缺如
- 缺指畸形-腭裂
- 内分泌脑骨发育不良综合征
- 内分泌-脑-骨纤维异常增殖综合征
- 骨内膜硬化-小脑发育不全
- 小脑发育不全伴骨内膜硬化
- 家族性肠旋转不良-面部异常
- 家族性肠旋转不良-颜面部畸形
- 股-面综合征
- 胎儿运动不能序列征
- 胎儿运动机能丧失变形序列
- FG综合征
- Keller综合征
- Opitz-Kaveggia综合征
- Filippi综合征
- Floating-Harbor综合征
- Fryns综合征
- Fuhrmann-Rieger-de Sousa综合征
- 腓骨发育不全或缺如-股骨弯曲-缺指（缺趾）畸形
- Fuhrmann综合征
- 生殖器-腭-心综合征
- 生殖器-髌骨综合征
- Goldberg-Shprintzen巨结肠综合征
- Shprintzen-Goldberg巨结肠综合征
- Haddad综合征
- 手-足-子宫综合征
- 手-足-生殖器综合征
- HERNS综合征
- 视网膜病-肾病-卒中的遗传性内皮细胞病
- 遗传性内皮细胞病伴视网膜病、肾病和卒中
- Holmes-Schepens综合征
- Donnai-Barrow综合征
- 垂体功能减退症-小阴茎-唇裂或腭裂
- 眶距过小症-腭裂-尿道下裂
- Juberg-Hayward综合征
- Kabuki综合征
- 歌舞伎面综合征
- KBG综合征
- Keutel综合征
- Kleefstra综合征
- Knobloch综合征
- 肢体-体壁综合征
- 体蒂异常
- 致死性关节挛缩症-前角细胞病
- LAAHD[致死性关节挛缩症-前角细胞病]
- Vuopala病
- Lowry-MacLean综合征
- Malpuech综合征
- 类马凡体形-智力缺陷，常染色体隐性遗传
- McDonough综合征
- Meacham综合征
- 巨膀胱-小结肠-肠蠕动不良-肾积水
- MMIHS[巨膀胱-小结肠-肠蠕动不良-肾积水]
- Berdon综合征
- 巨膀胱-细小结肠-肠蠕动迟缓-肾积水
- 小胃-肢体短缩缺陷
- 先天性小胃-肢缩小畸形
- Moebius综合征
- 先天性神经核发育不全
- 先天性眼面瘫痪
- 先天性面瘫
- Mowat-Wilson综合征
- 肌肝脑眼侏儒
- Perheentupa综合征
- 心包缩窄-生长发育停止
- MULIBREY侏儒
- 肌-肝-脑-眼侏儒
- 苗勒管异常-肢体异常
- Nance-Horan综合征
- Noonan样综合征，伴生长期头发松动症
- Noonan样综合征，生长期毛发松动综合征
- LEOPARD综合征
- Noonan伴多发性黑子综合征
- 神经纤维瘤病-努南综合征
- Ochoa综合征
- 眼-指-食管-十二指肠综合征
- ODOD[眼-指-食管-十二指肠综合征]
- 眼-腭-脑综合征
- Okihiro综合征
- Opitz BBB/G综合征
- 条纹状骨病-色素性皮肤病-白色额发
- 条纹状骨病-色素性皮肤病-额白斑病
- 骨斑点症-矮小症-智力缺陷
- 12q14微缺失综合征
- 12q14缺失
- 全身脆性骨硬化-矮小症-智力缺陷
- 骨异样增生-矮小-智力障碍综合征
- 骨质硬化-发育迟缓-颅缝早闭
- 骨硬化-鱼鳞病-卵巢早衰
- 神经系统或脑膜的骨硬化异常
- 过度生长-颅缝早闭-关节挛缩症
- 过度生长-狭颅症-关节屈曲挛缩症
- Pai综合征
- Pallister-Hall综合征
- PELVIS综合征
- PHACE综合征
- PHACE[后颅窝畸形-血管瘤-动脉异常-心脏缺陷-眼部异常-胸骨裂-脐上缝]综合征
- 海豹肢畸形，Schinzel型
- 海豹肢症（短肢畸形）
- Pitt-Hopkins综合征
- 皮特-霍普金斯综合征
- Pitt-Rogers-Danks综合征
- RAPADILINO综合征
- 视网膜色素变性-垂体功能减退-肾单位肾痨-骨骼发育不良
- RHYNS[视网膜色素变性-垂体功能减退-肾单位肾痨-骨骼发育不良]综合征
- Richieri Costa-Pereira综合征
- 另有 59 条未显示
英文词条（211）
- Other specified syndromes with multiple structural anomalies, not of environmental origin
- 46,XX disorder of sex development - anorectal anomalies
- 46,XX DSD - anorectal anomalies
- Aarskog-Scott syndrome
- Aarskog syndrome
- Faciodigitogenital syndrome
- Faciogenital dysplasia
- Ablepharon-macrostomia syndrome
- Acro-renal-mandibular syndrome
- Acrocallosal syndrome
- Acrocardiofacial syndrome
- Acrocephalopolydactyly
- Acrocephalopolydactylous dysplasia
- Elejalde syndrome
- Acrorenal syndrome
- Adams-Oliver syndrome
- Agonadism - dextrocardia - diaphragmatic hernia
- Ankyloblepharon filiforme adnatum - cleft palate
- Arthrogryposis multiplex congenita - lissencephaly
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
- Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
- Bifid nose - anorectal and renal anomalies
- BNAR - [Bifid nose - anorectal and renal anomalies] syndrome
- Blepharophimosis-intellectual deficit syndrome, Ohdo type
- Ohdo blepharophimosis syndrome
- Boissel lethal polymalformative syndrome
- Branchio-oculo-facial syndrome
- Branchio-otic syndrome
- Branchio-oto-renal syndrome
- BOR - [Branchio-oto-renal] syndrome
- Branchio-skeleto-genital syndrome
- CAMFAK syndrome
- CAMAK - [Cataract - microcephaly - arthrogryposis - kyphosis] syndrome
- Cataract - microcephaly - arthrogryposis - kyphosis
- Cataract - microcephaly - failure to thrive - kyphoscoliosis
- Camptodactyly - tall stature - scoliosis - hearing loss
- Cantrell pentalogy
- Cantrell syndrome
- Pentalogy of Cantrell
- Capra-DeMarco syndrome
- Berant syndrome
- Craniosynostosis - hydrocephalus - Chiari I malformation - radio-ulnar synostosis
- Familial scaphocephaly - radioulnar synostosis
- Cardiocranial syndrome, Pfeiffer type
- Cardioskeletal syndromes
- Heart-hand syndromes
- Brachydactyly-long thumb syndrome
- Heart-hand syndrome type 1
- Holt-Oram syndrome
- Heart-hand syndrome type 2
- Heart-hand syndrome type 3
- Heart-hand syndrome, Spanish type
- Heart-hand syndrome, Slovenian type
- Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
- Carey-Fineman-Ziter syndrome
- Catel-Manzke syndrome
- Caudal duplication
- Caudal regression sequence
- Sacral agenesis
- Cavernous haemangiomas of face - supraumbilical midline raphe
- Cloverleaf skull - multiple congenital anomalies
- Coffin-Lowry syndrome
- Coloboma of macula - brachydactyly type B
- Congenital cataracts - facial dysmorphism - neuropathy
- Cornelia de Lange syndrome
- Costello syndrome
- Cranio-facio-cardio-skeletal syndrome
- Cantu syndrome
- Craniosynostosis - anal anomalies - porokeratosis
- Craniosynostosis - cataract
- Craniosynostosis - Dandy-Walker malformation - hydrocephalus
- Craniosynostosis - synostoses - hypertensive nephropathy
- Currarino triad
- Dandy Walker malformation - facial haemangioma
- Deafness - ear malformation - facial palsy
- Double uterus - hemivagina - renal agenesis
- Ectrodactyly - cleft palate
- Endocrine-cerebro-osteodysplasia syndrome
- Endosteal sclerosis - cerebellar hypoplasia
- Familial intestinal malrotation - facial anomalies
- Femoral-facial syndrome
- fetal akinesia sequence
- FG syndrome
- Keller syndrome
- Opitz-Kaveggia syndrome
- Filippi syndrome
- Floating-Harbor syndrome
- Fryns syndrome
- Fuhrmann-Rieger-de Sousa syndrome
- Fibular hypoplasia or aplasia - femoral bowing - oligodactyly
- Fuhrmann syndrome
- Genito-palato-cardiac syndrome
- Genito-patellar syndrome
- Goldberg-Shprintzen megacolon syndrome
- Haddad syndrome
- Hand-foot-uterus syndrome
- Hand-foot-genital syndrome
- HERNS syndrome
- Holmes-Schepens syndrome
- Donnai-Barrow syndrome
- Hypopituitarism - micropenis - cleft lip or palate
- Hypotelorism - cleft palate - hypospadias
- Juberg-Hayward syndrome
- Kabuki syndrome
- KBG syndrome
- Keutel syndrome
- Kleefstra syndrome
- Knobloch syndrome
- Limb body wall complex
- Lethal arthrogryposis - anterior horn cell disease
- LAAHD - [Lethal arthrogryposis - anterior horn cell disease]
- Vuopala disease
- Lowry-MacLean syndrome
- Malpuech syndrome
- Marfanoid habitus - intellectual deficit, autosomal recessive
- McDonough syndrome
- Meacham syndrome
- Megacystis - microcolon - intestinal hypoperistalsis - hydronephrosis
- Berdon syndrome
- MMIHS - [Megacystis - microcolon - intestinal hypoperistalsis - hydronephrosis]
- Microgastria - limb reduction defect
- Moebius syndrome
- Mowat-Wilson syndrome
- MULIBREY nanism
- MULIBREY dwarfism
- Perheentupa syndrome
- Pericardial constriction - growth failure
- Muscle-liver-brain-eye nanism
- Mullerian duct anomalies - limb anomalies
- Nance-Horan syndrome
- Noonan-like syndrome with loose anagen hair
- LEOPARD syndrome
- Noonan with multiple lentigines syndrome
- Neurofibromatosis-Noonan syndrome
- Ochoa syndrome
- Oculo-digito-oesophageal-duodenal syndrome
- ODOD - [Oculo-digito-oesophageal-duodenal syndrome]
- Oculopalatocerebral syndrome
- Okihiro syndrome
- Opitz BBB/G syndrome
- Osteopathia striata - pigmentary dermopathy - white forelock
- Osteopoikilosis - short stature - intellectual deficit
- 12q14 deletion
- 12q14 microdeletion syndrome
- Osteosclerosis - developmental delay - craniosynostosis
- Osteosclerosis - ichthyosis - premature ovarian failure
- Osteosclerosis abnormalities of nervous system or meninges
- Overgrowth - craniosynostosis - arthrogryposis
- Pai syndrome
- Pallister-Hall syndrome
- PELVIS syndrome
- PHACE syndrome
- PHACE - [posterior fossa malformations – haemangiomas – arterial anomalies – cardiac defects – eye abnormalities – sternal cleft – supraumbilical raphe] syndrome
- Phocomelia, Schinzel type
- Pitt-Hopkins syndrome
- Pitt-Rogers-Danks syndrome
- RAPADILINO syndrome
- Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia
- RHYNS - [Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia] syndrome
- Richieri Costa-Pereira syndrome
- Roberts syndrome
- /SC phocomelia
- Shprintzen-Goldberg omphalocele syndrome
- Silver-Russell syndrome
- Russell-Silver syndrome
- Silver-Russell dwarfism
- Spondylocostal dysostosis - anal and genitourinary malformations
- Stapes ankylosis with broad thumbs and toes
- Stickler syndrome
- Stickler syndrome type 1
- Stickler syndrome type 2
- Stickler syndrome type 3
- Stickler syndrome type 4
- Autosomal recessive Stickler syndrome
- Syndactyly - telecanthus - anogenital and renal malformations
- TARP - [Talipes equinovarus - atrial septal defect - Robin sequence - persistent left superior vena cava] syndrome
- Talipes equinovarus - atrial septal defect - Pierre Robin sequence - persistence of the left superior vena cava
- Tetraamelia - multiple malformations
- Thoraco-abdominal enteric duplication
- Toriello-Carey syndrome
- Townes-Brocks syndrome
- Transverse limb deficiency - haemangioma
- Ulnar-mammary syndrome
- Schinzel syndrome
- Umbilical cord ulceration - intestinal atresia
- Uveal coloboma - cleft lip and palate - intellectual deficit
- VACTERL with hydrocephalus
- Van Der Woude syndrome
- Warsaw breakage syndrome
- WABS - [Warsaw breakage syndrome]
- X-linked intellectual deficit with marfanoid habitus
- Zimmermann-Laband syndrome
- Hydrolethalus
- Rieger syndrome
- Axenfeld-Rieger syndrome
- Thrombocytopaenia - absent radius
- TAR - [Thrombocytopaenia - absent radius] syndrome
- Thrombocytopenia with absent radius syndrome
- Macrocephaly - capillary malformation
- Macrocephaly - cutis marmorata telangiectatica congenita (MIM 602501)
后组配轴 Postcoordination
该条目未定义后组配轴，直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式，不是必填项。