familiaire progressieve hyperpigmentatie en hypopigmentatie (aandoening)
familiaire progressieve hyperpigmentatie en hypopigmentatie
Familial progressive hyper and hypopigmentation
Familial progressive hyperpigmentation and hypopigmentation of skin
A rare genetic skin pigmentation anomaly disorder with characteristics of progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple cafe au lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated cafe au lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. There is evidence this disease is caused by heterozygous mutation in the KIT ligand gene (KITLG) on chromosome 12q22.
Associated morphologypigmentverschuiving
Finding sitestructuur van huid
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde pigmentatiestoornissen
SNOMED CT to Orphanet simple map280628
SNOMED CT to ICD-10 extended map
AdviceALWAYS L81.8
CorrelationSNOMED CT source code to target map code correlation not specified