congenitaal coloboom van macula (aandoening)
congenitaal coloboom van macula
coloboma maculae luteae
Congenital coloboma of macula lutea
Coloboma of macula
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.
Associated morphologyfusiedefect
Finding sitestructuur van macula lutea
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map98945
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q14.8
CorrelationSNOMED CT source code to target map code correlation not specified