neurofibromatose type 6 (aandoening)
neurofibromatose type 6
familiaire multipele 'café au lait'-vlekken
familiaire multipele café-au-laitvlekken
Neurofibromatosis type 6
Familial CALMs (café-au-lait macules) isolated
Multiple café-au-lait spots
Familial café-au-lait spots
Familial isolated café-au-lait spots
Familial isolated café-au-lait macules
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.
Associated morphologyhyperpigmentatie
Finding sitestructuur van huid
SNOMED CT to Orphanet simple map2678
SNOMED CT to ICD-10 extended map
AdviceALWAYS L81.3
CorrelationSNOMED CT source code to target map code correlation not specified