SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/737579002
http://purl.bioontology.org/ontology/SNOMEDCT/737579002
Preferred Name

Congenital coloboma of macula lutea

Definitions
A rare non-syndromic developmental defect of the eye. The disease has characteristics of well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.
Synonyms
Coloboma of macula
Congenital coloboma of macula lutea (disorder)
Type http://www.w3.org/2002/07/owl#Class
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