8B61.4
局限性脊髓性肌萎缩
Localised spinal muscular atrophy
- 上级条目
- 8B61 脊肌萎缩症
- 层级
- 4 级
定义
这类疾病包括一组具有不同的虚弱模式和常染色体显性或X-连锁隐性遗传的疾病,具有特定的遗传特征。
This category comprises a group of disorders with a varied pattern of weakness and autosomal dominant or X-linked recessive inheritance with specific genetic profiles.
索引词 可用于检索该条目的同义词与别名
- 局限性脊髓性肌萎缩
- 局限性SMA[脊髓性肌萎缩]
- 脊肌萎缩症远端型
- 远端HMN[遗传性运动神经病]
- 远端遗传性运动神经病
- 远端遗传性运动神经病,常染色体显性遗传
- 远端HMN - [遗传性运动神经病]常染色体显性遗传
- 远端脊肌萎缩症,常染色体显性遗传
- 常染色体显性遗传良性远端脊肌萎缩症
- 常染色体显性遗传性先天性良性脊髓性肌萎缩
- 远端遗传性运动神经病1型
- DHMN1[远端遗传性运动神经病1型]
- 2型远端遗传性运动神经病
- DHMN2[远端遗传性运动神经病2型]
- 远端遗传性运动神经病5型
- DHMN5[远端遗传性运动神经病5型]
- 远端遗传性运动神经病7型
- DHMN7[远端遗传性运动神经病7型]
- 远端遗传性运动神经病,常染色体隐性遗传
- 远端HMN[遗传性运动神经病]常染色体隐性遗传
- 远端脊髓性肌萎缩,常染色体隐性遗传
- 常染色体隐性遗传性下运动神经元病,儿童期发病
- dSMA4[常染色体隐性遗传远端脊肌萎缩症4型]
- 常染色体隐性遗传远端脊肌萎缩症4型
- 远端遗传性运动神经病3型和4型
- dSMA3和dSMA4[远端遗传性运动神经病3型和4型]
- 远端遗传性运动神经病,Jerash型
- 远端脊肌萎缩症2型
- 脊肌萎缩症伴呼吸窘迫
- SMARD[脊肌萎缩症伴呼吸窘迫]
- 远端遗传性运动神经元病6型
- 严重的婴儿轴索性神经病伴呼吸衰竭
- X连锁远端遗传性运动神经病
- X连锁远端HMN
- X连锁远端脊肌萎缩症
- 肩胛腓型脊肌萎缩症
- SPSMA[肩胛腓型脊肌萎缩症]
- 面肩肱型脊肌萎缩症
- FSHSMA[面肩肱型脊肌萎缩症]
- 面肩肱型脊肌萎缩症伴感觉缺失
- Davidenkow病
- 肩肱型脊肌萎缩症
- 眼咽型脊肌萎缩症
- 琉球型脊肌萎缩症
- 脊髓延髓肌萎缩症
- 脊髓延髓肌萎缩症
- Kennedy病
- 肯尼迪病
英文词条(47)
- Localised spinal muscular atrophy
- localised SMA - [spinal muscular atrophy]
- Distal form of spinal muscular atrophy
- Distal HMN - [hereditary motor neuropathy]
- Distal hereditary motor neuropathy
- Distal hereditary motor neuropathy, autosomal dominant
- Distal HMN - [hereditary motor neuropathy] autosomal dominant
- Distal spinal muscular atrophy, autosomal dominant
- Autosomal dominant benign distal spinal muscular atrophy
- Autosomal dominant congenital benign spinal muscular atrophy
- Distal hereditary motor neuropathy type 1
- DHMN1 - [Distal hereditary motor neuropathy type 1]
- Distal hereditary motor neuropathy type 2
- DHMN2 - [Distal hereditary motor neuropathy type 2]
- Distal hereditary motor neuropathy type 5
- DHMN5 - [Distal hereditary motor neuropathy type 5]
- Distal hereditary motor neuropathy type 7
- DHMN7 - [Distal hereditary motor neuropathy type 7]
- Distal hereditary motor neuropathy, autosomal recessive
- Distal HMN - [hereditary motor neuropathy] autosomal recessive
- Distal spinal muscular atrophy, autosomal recessive
- Autosomal recessive lower motor neuron disease with childhood onset
- Autosomal recessive distal spinal muscular atrophy type 4
- dSMA4 - [Autosomal recessive distal spinal muscular atrophy type 4]
- Distal hereditary motor neuropathy type 3 and type 4
- dSMA3 and dSMA4 - [Distal hereditary motor neuropathy type 3 and type 4]
- Distal hereditary motor neuropathy, Jerash type
- Distal spinal muscular atrophy type 2
- Spinal muscular atrophy with respiratory distress
- Distal hereditary motor neuronopathy type 6
- SMARD - [Spinal muscular atrophy with respiratory distress]
- Severe infantile axonal neuropathy with respiratory failure
- Distal hereditary motor neuropathy, X-linked
- Distal HMN, X-linked
- Distal spinal muscular atrophy, X-linked
- Scapuloperoneal form of spinal muscular atrophy
- SPSMA - [Scapuloperoneal form of spinal muscular atrophy]
- Facioscapulohumeral form of spinal muscular atrophy
- FSHSMA - [Facioscapulohumeral form of spinal muscular atrophy]
- Facioscapulohumeral form of spinal muscular atrophy with sensory loss
- Davidenkow Disease
- Scapulohumeral form of spinal muscular atrophy
- Oculopharyngeal form of spinal muscular atrophy
- Ryukyu type of spinal muscular atrophy
- Bulbospinal muscular atrophy
- Kennedy Disease
- Spinal and bulbar muscular atrophy
后组配轴 Postcoordination
后组配是在主干编码之后追加的可选扩展轴(如侧别、具体解剖部位、严重程度),用于把「部位 + 侧别 + 病程」等细节一次表达完整。只有标注「必填」的轴在组合编码时必须给出,其余可留空。
- 临床表现hasManifestation可选