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helicoïde peripapillaire chorioretinale degeneratie (aandoening)
helicoïde peripapillaire chorioretinale degeneratie
atrophia areata
Helicoid peripapillary chorioretinal degeneration
Sveinsson chorioretinal atrophy
Atrophia areata
A rare autosomal dominant inherited chorioretinal degenerative disease presenting at birth or during infancy. The disease has characteristics of progressive bilateral retinal and choroidal atrophy which appears as lesions on the optic nerve and peripheral ocular fundus and leads to loss of central vision. Congenital anterior polar cataracts are sometimes associated with this disease. There is evidence this disease is caused by heterozygous mutation in the TEA domain family member-1 gene (TEAD1) on chromosome 11p15.
Id724384008
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van peripapillaire retina
Associated morphologyatrophia
Finding sitestructuur van peripapillaire choroidea
referentieset met complexe 'mapping' naar ICD-10
TargetH31.2
RuleTRUE
AdviceALWAYS H31.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified