Preferred Label : Helicoid peripapillary chorioretinal degeneration;
ICD-11 definition : Helicoid peripapillary chorioretinal degeneration is a rare autrosomal dominantly
inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized
by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the
optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital
anterior polar cataracts are sometimes associated with this disease.;
ICD-11 synonym : Atrophia areata; Sveinsson chorioretinal atrophy;
Origin ID : 896652469;
UMLS CUI : C1862382;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Helicoid peripapillary chorioretinal degeneration is a rare autrosomal dominantly
inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized
by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the
optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital
anterior polar cataracts are sometimes associated with this disease.
