| ernstige gegeneraliseerde recessieve epidermolysis bullosa dystrophica (aandoening) | | ernstige gegeneraliseerde recessieve epidermolysis bullosa dystrophica | | Severe generalized recessive dystrophic epidermolysis bullosa | | Autosomal recessive dystrophic epidermolysis bullosa Hallopeau Siemens type
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
| | The most severe subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Blisters develop at birth or during the neonatal period and affect all the body as well as the oral and gastrointestinal mucosa. Eye involvement is frequent and includes blepharitis and corneal blisters that can lead to loss of vision. Esophageal stricture is frequent and result in severe dysphagia. Nearly all patients develop at least one aggressive squamous cell carcinoma. The disease is caused by null mutations within the type VII collagen gene (COL7A1) that usually lead to a lack of functional collagen VII, the main constituent of anchoring fibrils that anchor the basement membrane to the dermis. Transmission is autosomal recessive. |
| | Id | 723716009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 79408 |
| SNOMED CT to ICD-10 extended map | | Target | Q81.2 | | Rule | TRUE | | Advice | ALWAYS Q81.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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