A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages.

Synonyms:

X-linked juvenile retinoschisis

XLRS

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0271091 (E (Exact mapping: the two concepts are equivalent))
  • OMIM:312700 (E (Exact mapping: the two concepts are equivalent))
  • ICD-10:Q14.1 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet).)
  • ICD-11:9B73.11 (- E (Exact mapping: the two concepts are equivalent). - Specific code (The ORPHA code has its own code in the ICD).)
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792
hasDbXref
  • OMIM:312700
  • ICD-11:9B73.11
  • ICD-10:Q14.1
  • UMLS:C0271091
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409945
  • http://www.orpha.net/ORDO/Orphanet_409947
  • http://www.orpha.net/ORDO/Orphanet_409948
  • http://www.orpha.net/ORDO/Orphanet_409946
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409932
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
notation
  • ORPHA:792
part of
  • http://www.orpha.net/ORDO/Orphanet_98641
  • http://www.orpha.net/ORDO/Orphanet_98631
  • http://www.orpha.net/ORDO/Orphanet_525677
  • http://www.orpha.net/ORDO/Orphanet_522548
present in
  • http://www.orpha.net/ORDO/Orphanet_410051
  • http://www.orpha.net/ORDO/Orphanet_409984
  • http://www.orpha.net/ORDO/Orphanet_410066
  • http://www.orpha.net/ORDO/Orphanet_409991
  • http://www.orpha.net/ORDO/Orphanet_410147