syndroom van palmoplantaire keratodermie en spastische paralyse (aandoening) | | syndroom van palmoplantaire keratodermie en spastische paralyse | | syndroom van keratoderma palmoplantaris en spastische paralyse
| | Palmoplantar keratoderma, spastic paralysis syndrome | | Powell Venencie Gordon syndrome
| | A rare genetic punctate palmoplantar keratoderma disease with characteristics of discrete focal punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983. |
| Id | 785725008 | 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 |
|
SNOMED CT to Orphanet simple map | 2201 |
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 |
|
|