| epidermolysis bullosa dystrophica van uitsluitend nagels (aandoening) | | epidermolysis bullosa dystrophica van uitsluitend nagels | | Dystrophic epidermolysis bullosa nails only | | Nails only DEB (dystrophic epidermolysis bullosa)
| | A rare subtype of dystrophic epidermolysis bullosa that shows no blistering and that has characteristics of dystrophic or absent nails. Prevalence is unknown. Approximately ten families have been reported to date. However, this variant may be overlooked because of negligible clinical implications. Onset is usually at birth or during infancy. Except from nail involvement, no other cutaneous or extracutaneous symptoms are observed. Nail deformity is often limited to toenails that can appear thickened and shortened. Caused by mutations within the type VII collagen gene (COL7A1). It usually follows an autosomal dominant pattern of inheritance. One family with an autosomal recessive inheritance has also been reported. |
| | Id | 722436002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 158676 |
| SNOMED CT to ICD-10 extended map | | Target | Q81.2 | | Rule | TRUE | | Advice | ALWAYS Q81.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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