| epidermolysis bullosa simplex met spierdystrofie (aandoening) | | epidermolysis bullosa simplex met spierdystrofie | | epidermolysis bullosa simplex met musculaire dystrofie
| | Epidermolysis bullosa simplex with muscular dystrophy | | Limb girdle muscular dystrophy with epidermolysis bullosa simplex
| | A basal subtype of epidermolysis bullosa simplex characterized by generalized blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present. Caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. Transmission is autosomal recessive. |
| | Id | 723308003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q81.0 | | Term | Epidermolysis bullosa simplex |
| Target | G70.9 | | Term | Neuromusculaire aandoening, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 257 |
| SNOMED CT to ICD-10 extended map | | Target | Q81.0 | | Rule | TRUE | | Advice | ALWAYS Q81.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G71.0 | | Rule | TRUE | | Advice | ALWAYS G71.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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