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EC30 Epidermolysis bullosa simplex

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

• Epidermolysis bullosa simplex
• Epidermolytic epidermolysis bullosa
• Suprabasal epidermolysis bullosa simplex
• Suprabasal EBS
• Acantholytic epidermolysis bullosa
• LAEB - [lethal acantholytic epidermolysis bullosa] due to desmoplakin deficiency (MIM 609638)
• EBS-acanth
• LAEB
• Lethal acantholytic epidermolysis bullosa
• Epidermolysis bullosa simplex superficialis
• EBS - [epidermolysis bullosa simplex] superficialis
• EBSS - [epidermolysis bullosa simplex superficialis]
• Ectodermal dysplasia – skin fragility syndrome
• Plakophilin 1 deficiency
• ED – SF - [Ectodermal dysplasia – skin fragility] syndrome (MIM 604536)
• EBS-plakophilin
• 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
• Epidermolysis bullosa herpetiformis
• EBS-DM - [generalised epidermolysis bullosa simplex, Dowling-Meara]
• EBS - [epidermolysis bullosa simplex] Dowling-Meara
• EBS-gen sev - [epidermolysis bullosa simplex generalised type]
• Epidermolysis bullosa simplex, generalised intermediate
• EBS, gen-nDM - [generalised epidermolysis bullosa simplex, non-Dowling-Meara]
• EBS - [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-MD - [epidermolysis bullosa simplex with muscular dystrophy] (MIM 226670)
• EBS - [epidermolysis bullosa simplex] with muscular dystrophy
• Epidermolysis bullosa simplex with limb-girdle muscular dystrophy
• Epidermolysis bullosa simplex with pyloric atresia
• EBS-PA - [epidermolysis bullosa simplex with pyloric atresia]
• EBS - [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-AR - [epidermolysis bullosa simplex, autosomal recessive]
• EBS - [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]

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