syndroom van gegeneraliseerde basaloïde folliculaire hamartomen (aandoening)
syndroom van gegeneraliseerde basaloïde folliculaire hamartomen
Generalized basaloid follicular hamartoma syndrome
A rare genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillae and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermCongenitale niet-neoplastische naevus
SNOMED CT to Orphanet simple map168632
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q82.5
CorrelationSNOMED CT source code to target map code correlation not specified