EC30
单纯型大疱性表皮松解症
Epidermolysis bullosa simplex
- 上级条目
- 遗传性大疱性表皮松解症
- 层级
- 4 级
定义
单纯性大疱性表皮松解症是由遗传决定的表皮细胞间粘连缺陷的一组异质性名称。在摩擦应力和剪切应力作用下，产生水泡。
Epidermolysis bullosa simplex is the name given to a heterogeneous group of genetically-determined defects in epidermal cell-cell adhesion. These give rise to blistering in response to frictional and shearing stresses.
索引词 可用于检索该条目的同义词与别名
- 单纯型大疱性表皮松解症
- 大疱性表皮松解症
- 单纯型大疱性基底上表皮松解症
- 基底上EBS
- 皮肤棘层松解大疱性表皮松解症
- LAEB
- 致命皮肤棘层松解大疱性表皮松解症
- LAEB[桥粒斑蛋白缺陷引起的致命皮肤棘层松解大疱性表皮松解症]（MIM 609638）
- EBS-棘皮症
- 单纯浅表型大疱性表皮松解症
- EBS[单纯大疱性表皮松解症]浅表型
- EBSS[单纯浅表型大疱性表皮松解症]
- 外胚层发育不良-皮肤脆弱综合征
- EBS-斑菲素蛋白
- 皮肤脆性-外胚层发育不良综合征
- ED–SF[外胚层发育不良-皮肤脆性]综合征（MIM 604536）
- 斑菲素蛋白1缺乏
- 皮肤脆性-盘状球蛋白缺乏
- EBS-斑菲素蛋白
- 单纯型大疱性基底表皮松解症
- 基底部EBS[单纯型大疱性基底表皮松解症]
- 常染色体显性遗传大疱性基底表皮松解症
- 单纯型大疱性表皮松解症，局部
- 局部EBS[单纯型大疱性表皮松解症]
- 单纯型大疱性表皮松解症，Weber-Cockayne型
- 单纯型大疱性表皮松解症伴斑驳色素沉着
- EBS[单纯型大疱性表皮松解症]伴斑驳色素沉着
- EBS-MP[单纯型大疱性表皮松解症伴斑驳色素沉着]
- 单纯型大疱性表皮松解症，Ogna型
- EBS, Ogna[单纯型大疱性表皮松解症，Ogna型]
- EBS, Og[单纯型大疱性表皮松解症，Og型]
- 单纯型大疱性表皮松解症，严重泛发型
- EBS-DM[性单纯型大疱性表皮松解症，Dowling-Meara型]
- EBS[单纯型大疱性表皮松解症]Dowling-Meara型
- EBS Gen Sev[单纯型大疱性表皮松解症，泛发型]
- 疱疹样大疱性表皮松解症
- 单纯型大疱性表皮松解症，中度泛发型
- EBS-gen中度
- EBS, gen-nDM[泛发单纯型大疱性表皮松解症，非Dowling-Meara型]
- EBS[泛发单纯型大疱性表皮松解症]非Dowling-Meara型
- 常染色体隐性遗传单纯型基底大疱性表皮松解症
- 单纯型大疱性表皮松解症，移行环状
- EBS[单纯型大疱性表皮松解症]移行环状
- 单纯型大疱性表皮松解症伴肌营养不良
- EBS [单纯型大疱性表皮松解症] 伴肌营养不良
- EBS-MD - [大疱性表皮松解症伴肌营养不良]
- 单纯型大疱性表皮松解症伴肢带型肌营养不良
- 单纯型大疱性表皮松解症伴幽门闭锁
- EBS-PA[单纯型大疱性表皮松解症伴幽门闭锁]
- EBS[单纯型大疱性表皮松解症]伴幽门闭锁
- BP230缺乏引起的常染色体隐性遗传单纯型大疱性表皮松解症
- EBS-AR BP230型
- EBS[单纯型大疱性表皮松解症]新亚型
- 其他特指常染色体隐性遗传EBS[单纯型大疱性表皮松解症]
- 常染色体隐性遗传外接蛋白5缺乏引起的单纯型大疱性表皮松解症
- EBS-AR exophilin蛋白5
- EBS-AR[单纯型大疱性表皮松解症，常染色体隐性遗传]
- 常染色体隐性遗传EBS[单纯型大疱性表皮松解症]
- 单纯型大疱性表皮松解症，常染色体隐性遗传角蛋白缺乏
- EBS-AR K14[单纯型大疱性表皮松解症-常染色体隐性遗传角蛋白14]
英文词条（60）
- Epidermolysis bullosa simplex
- Epidermolytic epidermolysis bullosa
- Suprabasal epidermolysis bullosa simplex
- Suprabasal EBS
- Acantholytic epidermolysis bullosa
- EBS-acanth
- LAEB
- LAEB - [lethal acantholytic epidermolysis bullosa] due to desmoplakin deficiency (MIM 609638)
- Lethal acantholytic epidermolysis bullosa
- Epidermolysis bullosa simplex superficialis
- EBS - [epidermolysis bullosa simplex] superficialis
- EBSS - [epidermolysis bullosa simplex superficialis]
- Ectodermal dysplasia – skin fragility syndrome
- EBS-plakophilin
- ED – SF - [Ectodermal dysplasia – skin fragility] syndrome (MIM 604536)
- Plakophilin 1 deficiency
- Skin fragility - ectodermal dysplasia syndrome
- Skin fragility - plakoglobin deficiency
- EBS-plakoglobin
- Basal epidermolysis bullosa simplex
- Basal EBS - [basal epidermolysis bullosa simplex]
- Autosomal dominant basal epidermolysis bullosa simplex
- Epidermolysis bullosa simplex, localised
- Epidermolysis bullosa simplex, Weber-Cockayne
- localised EBS- [epidermolysis bullosa simplex]
- Epidermolysis bullosa simplex with mottled pigmentation
- EBS - [epidermolysis bullosa simplex] with mottled pigmentation
- EBS-MP - [epidermolysis bullosa simplex with mottled pigmentation]
- Epidermolysis bullosa simplex, Ogna
- EBS, Ogna - [epidermolysis bullosa simplex, Ogna]
- EBS-Og - [epidermolysis bullosa simplex, Ogna]
- Epidermolysis bullosa simplex, generalised severe
- EBS - [epidermolysis bullosa simplex] Dowling-Meara
- EBS-DM - [generalised epidermolysis bullosa simplex, Dowling-Meara]
- EBS-gen sev - [epidermolysis bullosa simplex generalised type]
- Epidermolysis bullosa herpetiformis
- Epidermolysis bullosa simplex, generalised intermediate
- EBS - [epidermolysis bullosa simplex] non-Dowling-Meara
- EBS, gen-nDM - [generalised epidermolysis bullosa simplex, non-Dowling-Meara]
- EBS-gen intermed
- Autosomal recessive basal epidermolysis bullosa simplex
- Epidermolysis bullosa simplex, migratory circinate
- EBS - [epidermolysis bullosa simplex] migratory circinate
- Epidermolysis bullosa simplex with muscular dystrophy
- EBS - [epidermolysis bullosa simplex] with muscular dystrophy
- EBS-MD - [epidermolysis bullosa simplex with muscular dystrophy]
- Epidermolysis bullosa simplex with limb-girdle muscular dystrophy
- Epidermolysis bullosa simplex with pyloric atresia
- EBS - [epidermolysis bullosa simplex] with pyloric atresia
- EBS-PA - [epidermolysis bullosa simplex with pyloric atresia]
- Autosomal recessive epidermolysis bullosa simplex due to BP230 deficiency
- EBS - [epidermolysis bullosa simplex] new subtype
- EBS - [epidermolysis bullosa simplex] other specified autosomal recessive
- EBS-AR BP230
- Epidermolysis bullosa simplex, autosomal recessive due to exophilin 5 deficiency
- EBS - [epidermolysis bullosa simplex] autosomal recessive
- EBS-AR - [epidermolysis bullosa simplex, autosomal recessive]
- EBS-AR exophilin 5
- Epidermolysis bullosa simplex, autosomal recessive keratin 14 deficiency
- EBS-AR K14 - [epidermolysis bullosa simplex - autosomal recessive keratin 14]
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。