Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (disorder) | | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | | A rare genetic isolated focal palmoplantar keratoderma disease with characteristics of focal thickening of the skin of the soles and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and occasionally subtle oral leukokeratosis or plantar hyperhidrosis. Caused by heterozygous mutation in the KRT6C gene on chromosome 12q13. | | autosomaal dominante focale niet-epidermolytische keratosis palmoplantaris met vorming van bullae op plantaire zijde van voet | | autosomaal dominante focale niet-epidermolytische palmoplantaire keratodermie met vorming van blaren op planta pedis autosomaal dominante focale niet-epidermolytische palmoplantaire keratodermie met blaarvorming op voetzool
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| Id | 783136007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | Q82.8 | Rule | TRUE | Advice | ALWAYS Q82.8 | 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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