| 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 with characteristics of 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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