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familiale multipele naevi flammei (aandoening)
familiale multipele naevi flammei
familiaire meervoudige wijnvlekken
Familial multiple nevi flammei
Familial multiple port-wine stains
A rare genetic capillary malformation characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age. There is evidence that congenital capillary malformations can be caused by somatic mosaic mutation in the GNAQ gene on chromosome 9q21.
Id763714006
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map624
SNOMED CT to ICD-10 extended map
TargetQ82.5
RuleTRUE
AdviceALWAYS Q82.5
CorrelationSNOMED CT source code to target map code correlation not specified