| syndroom van huidfragiliteit, wollig haar en palmoplantaire keratodermie (aandoening) | | syndroom van huidfragiliteit, wollig haar en palmoplantaire keratodermie | | Skin fragility, wooly hair, palmoplantar keratoderma syndrome | | A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. |
| | Id | 778010006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q82.8 | | Term | Overige gespecificeerde congenitale misvormingen van huid |
| Target | Q84.1 | | Term | Congenitale morfologische stoornissen van haar, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 293165 |
| SNOMED CT to ICD-10 extended map | | 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 |
| Target | Q84.1 | | Rule | TRUE | | Advice | ALWAYS Q84.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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