| recessieve epidermolysis bullosa dystrophica non-Hallopeau-Siemens-type (aandoening) | | recessieve epidermolysis bullosa dystrophica non-Hallopeau-Siemens-type | | RDEB non-Hallopeau-Siemens-type
| | Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type | | RDEB-O - recessive dystrophic epidermolysis bullosa-generalized other
| | A subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalized blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive. |
| | Id | 725407006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q81.2 | | Term | Epidermolysis bullosa dystrophica |
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| SNOMED CT to Orphanet simple map | 89842 |
| 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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