口-面-指综合征
Oral-facial-digital syndrome
- 层级
- 5 级
定义
产前头部和手指未能正常发育引起的一种情况。这种情况可能与舌裂、舌部非癌性肿瘤或舌结节、牙齿形状或数量异常、腭裂、唇系带或牙龈增生、唇裂、眶距增宽症、宽鼻宽鼻梁、并指、短指/趾、先天性指(趾)侧弯、多指、多囊肾病、神经系统问题、骨骼异常、视力下降或先天性心脏病有关。
A condition caused by failure of the head and digits to correctly develop during the antenatal period. This condition may be associated with cleft or lobed tongue, noncancerous tumours or nodules of the tongue, abnormal shape or number of teeth, cleft palate, hyperplastic frenula of the lip or gums, cleft lip, hypertelorism, wide nose with broad, flat nasal bridge, syndactyly, brachydactyly, clinodactyly, polydactyly, polycystic kidney disease, neurological problems, bone abnormalities, vision loss, or heart defects.
索引词 可用于检索该条目的同义词与别名
- 口-面-指综合征
- 口-面-指（趾）综合征1型
- 口面指综合征1型
- Papillon-LéAge-Psaume综合征
- OFD1[口面指（趾）综合征1型]
- 口-面-指（趾）综合征2型
- 口-面-指（趾）综合征3型
- 口-面-指（趾）综合征4型
- 口-面-指（趾）综合征5型
- 口-面-指（趾）综合征6型
- Joubert综合征伴口面指（趾）缺陷
- 口-面-指（趾）综合征8型
- 口-面-指（趾）综合征9型
- 口-面-指（趾）综合征10型
- 口-面-指（趾）综合征11型
- 口-面-指（趾）综合征12型
- 口-面-指（趾）综合征13型
英文词条（17）
- Oral-facial-digital syndrome
- Oral-facial-digital syndrome type 1
- OFD1 - [orolfacialdigital syndrome 1]
- Orofaciodigital syndrome type 1
- Papillon-Léage-Psaume syndrome
- Oral-facial-digital syndrome type 2
- Oral-facial-digital syndrome type 3
- Oral-facial-digital syndrome type 4
- Oral-facial-digital syndrome type 5
- Oral-facial-digital syndrome type 6
- Joubert syndrome with orofaciodigital defect
- Oral-facial-digital syndrome type 8
- Oral-facial-digital syndrome type 9
- Oral-facial-digital syndrome type 10
- Oral-facial-digital syndrome type 11
- Oral-facial-digital syndrome type 12
- Oral-facial-digital syndrome type 13
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。