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hereditaire gelsolineamyloïdose (aandoening)
hereditaire gelsolineamyloïdose
erfelijke gelsolineamyloïdose
AGel amyloidosis
Hereditary gelsolin amyloidosis
Familial amyloid polyneuropathy type IV
Lattice corneal dystrophy type II
Familial amyloidosis Finnish type
Hereditary amyloidosis Finnish type
Gelsolin amyloidosis
A rare systemic amyloidosis with characteristics of a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility and less commonly peripheral neuropathy and renal failure. Caused by mutation in the gelsolin gene (GSN).
Id783160006
StatusPrimitive
Associated morphologydepositie van amyloïd
Finding sitestructuur van bulbus oculi
Associated morphologydystrofie
Finding sitestructuur van cornea
Associated morphologyfocaal amyloïd
Finding sitestructuur van huid
referentieset met complexe 'mapping' naar ICD-10
TargetE85.1
RuleTRUE
AdviceALWAYS E85.1
CorrelationSNOMED CT source code to target map code correlation not specified