| syndroom van pigmentatiedefecten, keratosis palmoplantaris en carcinoom van huid (aandoening) | | syndroom van pigmentatiedefecten, keratosis palmoplantaris en carcinoom van huid | | syndroom van pigmentatiedefecten, palmoplantaire keratodermie en huidcarcinoom
| | Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome | | A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. |
| | Id | 1230005002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 447961 |
| SNOMED CT to ICD-10 extended map | | Target | Q82.4 | | Rule | TRUE | | Advice | ALWAYS Q82.4 | 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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