LD24.3
迟发性脊椎骨骺发育不良或先天性脊柱骨骺发育不良
Spondyloepiphyseal or spondyloepimetaphyseal dysplasias
- 层级
- 4 级
定义
脊椎骨骺发育不良（SED）是一组异质性先天性软骨发育不良，特别影响骨骺和椎体。其最常见形式的特点是新生儿大小较小的卵圆椎体，骨骼整体生长较晚，股骨头更为明显，干骺端界限稍不规则。其他临床形式也有描述，其中一些是显性的，或多或少有严重的干骺端病变，而其他是隐性的，包括肾病综合征、淋巴细胞减少症和免疫性疾病（免疫性骨发育不良）。
Spondyloepiphyseal dysplasias (SED) are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. Their most frequent form is characterised by small neonatal size of ovid vertebrae and overall late growth of bones, more marked in the femoral heads, with a slightly irregular metaphyseal limit. Other clinical forms have been described, some of which were dominant and more or less severe with metaphyseal lesions, while others were recessive and included nephrotic syndrome, lymphopenia, and immune disorders (immune bone dysplasia).
索引词 可用于检索该条目的同义词与别名
- 迟发性脊椎骨骺发育不良或先天性脊柱骨骺发育不良
- 先天性脊椎骨骺发育不良
- SEDC[先天性椎体骨骺结构不良]
- 脊椎骨骺发育不全
- SED[脊椎骨骺发育不良]
- 先天性椎体骨骺结构不良
- COL2A1基因突变引起的轻度脊椎骨骺发育不良伴早发型骨关节炎
- Kniest骨发育不全
- 先天性脊椎干骺端发育不良，Strudwick型
- 先天性脊柱骨骺发育不良型
- 脊椎干骺端发育不良
- 先天性脊柱骨骺发育不良
- 脊椎周围发育不良-短尺骨
- Czech发育不良，跖骨型
- 耳-脊椎-骨骺发育不良
- Weissenbacher-Zweymuller综合征
- 纤维软骨增生
- 节段发育不良，Silverman-Handmaker型
- 节段发育不良，Rolland-Desbuquois型
- 间向性骨发育不良
- 间向性侏儒
- 间向性骨发育不良
- 类扭伤性侏儒
- 近流侏儒症
- Schneckenbecken发育不良
- 溶质载体家族35缺陷
- SLC35D1-CDG
- 脊椎骨骺发育不良，Maroteaux型
- 脊椎干骺端发育不良-短肢-异常钙化
- X连锁迟发性脊椎骨骺发育不良
- 脊椎骨骺发育不良，Kimberley型
- 脊椎骨骺发育不良，Omani型
- 迟发性脊椎骨骺发育不良，Kohn型
- 晚发型脊椎骨骺发育不良，Kohn型
- 脊椎骨骺发育不良，Nishimura型
- 脊椎骨骺发育不良，Reardon型
- 脊椎骨骺发育不良，MacDermot型
- 脊椎骨骺发育不良，Byers型
- 脊椎骨骺发育不良，Cantu型
- Dyggve-Melchior-Clausen病
- Smith-McCort发育不良
- 脊椎和鼻改变伴横纹干骺端发育不良
- SPONASTRIME[脊椎和鼻改变伴横纹干骺端发育不良]
- 短肢侏儒伴鞍鼻、脊柱改变和干骺端横纹
- 脊椎干骺端发育不良，matrilin-3型
- 脊椎干骺端发育不良-关节松弛
- 脊椎骨骺发育不良，巴基斯坦型
- 脊椎干骺端发育不良，蛋白聚糖型
- 脊椎干骺端发育不良，聚集蛋白聚糖型
- X连锁脊椎干骺端发育不良
- 脊椎干骺端发育不良，Irapa型
- 脊椎干骺端发育不良，Shohat型
- 脊椎干骺端发育不良，Missouri型
- 脊柱骨干骺端发育不良，密苏里型
- 脊椎干骺端发育不良-多发脱位
- 脊椎干骺端发育不良，Handigodu型
- 脊椎干骺端发育不良-少毛症
- 脊椎干骺端发育不良，Bieganski型
- 脊椎干骺端发育不良-牙列异常
- 脊椎干骺端发育不良，Genevieve型
- 椎体软骨发育不良
- 椎体内生软骨瘤病
- 脊柱内生软骨瘤病
- 儿童期进行性假性类风湿性骨关节病
- 短指侏儒症，Mseleni型
- 细胞不增大性发育不良
- 脊椎干骺端发育不良，Menger型
- 脊椎干骺端发育不良，细胞不增大型
- CHST3相关性骨骼发育不良
英文词条（62）
- Spondyloepiphyseal or spondyloepimetaphyseal dysplasias
- Congenital spondyloepiphyseal dysplasia
- SED - [spondyloepiphyseal dysplasia]
- SEDC - [spondyloepiphyseal dysplasia congenita]
- spondyloepiphyseal dysplasia
- spondyloepiphyseal dysplasia congenita
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
- Kniest dysplasia
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- spondyloepimetaphyseal dysplasia
- spondyloepiphyseal dysplasia congenita group
- Spondyloperipheral dysplasia - short ulna
- Czech dysplasia, metatarsal type
- Otospondylomegaepiphyseal dysplasia
- Weissenbacher- Zweymuller syndrome
- Fibrochondrogenesis
- Dyssegmental dysplasia, Silverman-Handmaker type
- Dyssegmental dysplasia, Rolland-Desbuquois type
- Metatropic dysplasias
- Metatropic dwarfism
- Parastremmatic dwarfism
- Schneckenbecken dysplasia
- SLC35D1-CDG
- Solute carrier family 35 deficiency
- Spondyloepiphyseal dysplasia, Maroteaux type
- Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
- Spondyloepiphyseal dysplasia tarda, X-linked
- Spondyloepiphyseal dysplasia, Kimberley type
- Spondyloepiphyseal dysplasia, Omani type
- Spondyloepiphyseal dysplasia tarda, Kohn type
- Spondyloepiphyseal dysplasia, Nishimura type
- Spondyloepiphyseal dysplasia, Reardon type
- Spondyloepiphyseal dysplasia, MacDermot type
- Spondyloepiphyseal dysplasia, Byers type
- Spondyloepiphyseal dysplasia, Cantu type
- Dyggve-Melchior-Clausen disease
- Smith-McCort dysplasia
- Spondylar and nasal alterations with striated metaphyses dysplasia
- SPONASTRIME - [spondylar and nasal alterations with striated metaphyses] dysplasia
- short limb dwarfism with saddle nose, spinal alterations and metaphyseal striation
- Spondyloepimetaphyseal dysplasia, matrilin-3 type
- Spondyloepimetaphyseal dysplasia - joint laxity
- Spondyloepiphyseal dysplasia, Pakistani type
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondyloepimetaphyseal dysplasia, X-linked
- Spondyloepimetaphyseal dysplasia, Irapa type
- Spondyloepimetaphyseal dysplasia, Shohat type
- Spondyloepimetaphyseal dysplasia, Missouri type
- Spondyloepimetaphyseal dysplasia - multiple dislocations
- Spondyloepimetaphyseal dysplasia, Handigodu type
- Spondyloepimetaphyseal dysplasia - hypotrichosis
- Spondyloepimetaphyseal dysplasia, Bieganski type
- Spondyloepimetaphyseal dysplasia - abnormal dentition
- Spondyloepimetaphyseal dysplasia, Genevieve type
- Spondyloenchondrodysplasia
- Spondyloenchondromatosis
- Progressive pseudorheumatoid arthropathy of childhood
- Brachydactylous dwarfism, Mseleni type
- Anauxetic dysplasia
- Spondyloepimetaphyseal dysplasia, Menger type
- Spondyloepimetaphyseal dysplasia, anauxetic type
- CHST3-related skeletal dysplasia
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。