hereditaire gelsolineamyloïdose (aandoening)
hereditaire gelsolineamyloïdose
erfelijke gelsolineamyloïdose
AGel amyloidosis
Gelsolin amyloidosis
Hereditary gelsolin amyloidosis
Familial amyloid polyneuropathy type IV
Lattice corneal dystrophy type II
Familial amyloidosis Finnish type
Hereditary amyloidosis Finnish type
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).
Associated morphologydepositie van amyloïd
Finding sitestructuur van bulbus oculi
Associated morphologydystrofie
Finding sitestructuur van cornea
Associated morphologyfocaal amyloïd
Finding sitestructuur van huid
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermNeuropathische heredofamiliale amyloïdose
SNOMED CT to Orphanet simple map85448
SNOMED CT to ICD-10 extended map
AdviceALWAYS E85.1
CorrelationSNOMED CT source code to target map code correlation not specified