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neurofibromatose type 6 (aandoening)
neurofibromatose type 6
familiaire multipele 'café au lait'-vlekken
familiaire multipele café-au-laitvlekken
Neurofibromatosis type 6
Multiple café-au-lait spots
Familial café-au-lait spots
Multiple café-au-lait syndrome
NF6 - neurofibromatosis type 6
A cutaneous disorder with characteristics of the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Prevalence is unknown, but the disease appears to be extremely rare. The macules may appear in infancy, but usually they are detected after 2 years of age. Close linkage to the NF1 gene (17q11.2) has been reported in some cases. Transmission is autosomal dominant.
Id1208340009
StatusPrimitive
Associated morphologyhyperpigmentatie
Finding sitestructuur van huid
ICD-10 complex map reference set
TargetL81.3
RuleTRUE
AdviceALWAYS L81.3
CorrelationSNOMED CT source code to target map code correlation not specified