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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.
Id1230005002
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydystrofie
Finding sitestructuur van nagel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypigmentverschuiving
Finding sitestructuur van huid
SNOMED CT to Orphanet simple map447961
SNOMED CT to ICD-10 extended map
TargetQ82.4
RuleTRUE
AdviceALWAYS Q82.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified