LD20.2
以小头畸形为主要特征的综合征
Syndromes with microcephaly as a major feature
- 层级
- 4 级
定义
头部异常小为重要特征的发育综合征。
Developmental syndromes in which an abnormally small head size is a significant feature.
索引词 可用于检索该条目的同义词与别名
- 以小头畸形为主要特征的综合征
- 小头畸形-颈椎融合异常
- 小头畸形-大脑缺陷-痉挛-高钠血症
- 小头畸形-小角膜综合征，Seemanova型
- 小头畸形，Amish型
- 线粒体硫胺素焦磷酸盐载体缺乏
- 阿米什致死性小头症
- Bowen-Conradi综合征
- 重症新生儿早发型脑病伴小头畸形
- 先天性宫内感染样综合征
- 伪TORCH综合征
- 假性TORCH综合征
- 小头畸形-骨发育不良-原基性侏儒综合征1和3型
- MOPD[小头畸形-骨发育不良-原基性侏儒综合征]1和3型
- 小头畸形-骨发育不良-原基性矮小症1和3型
- 小头畸形-骨发育不良-原基性侏儒综合征2型
- MOPD[小头畸形-骨发育不良-原基性侏儒综合征]2型
- 小头畸形-骨发育不良-原基性侏儒综合征Ⅱ型
- 小头畸形-骨发育不良-原基性矮小症2型
- 智力发育障碍与小头畸形伴脑桥小脑发育不全
- MICPCH[智力低下与小头畸形伴脑桥小脑发育不全]
英文词条（19）
- Syndromes with microcephaly as a major feature
- Microcephaly - cervical spine fusion anomalies
- Microcephaly - brain defect - spasticity - hypernatremia
- Microcephaly-microcornea syndrome, Seemanova type
- Microcephaly, Amish type
- Mitochondrial thiamine pyrophosphate carrier deficiency
- Bowen-Conradi syndrome
- Severe neonatal-onset encephalopathy with microcephaly
- Congenital intrauterine infection-like syndrome
- Pseudo-TORCH syndrome
- Microcephalic osteodysplastic primordial dwarfism types 1 and 3
- MOPD - [microcephalic osteodysplastic primordial dwarfism] types 1 and 3
- Microcephalic osteodysplastic primordial short stature types 1 and 3
- Microcephalic osteodysplastic primordial dwarfism type 2
- MPOD - [microcephalic osteodysplastic primordial dwarfism] type 2
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic osteodysplastic primordial short stature type 2
- Intellectual development disorder and microcephaly with pontine and cerebellar hypoplasia
- MICPCH - [mental retardation and microcephaly with pontine and cerebellar hypoplasia]
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。