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septo-optic dysplasia

Medical Definition

Underdevelopment of the optic nerve and absence of the septum pellucidum. [https://orcid.org/0009-0006-4530-3154]

Wikipedia Summary

Septo-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain). Two or more of these features need to be present for a clinical diagnosis—only 30% of patients have all three. French-Swiss doctor Georges de Morsier first recognized the relation of a rudimentary or absent septum pellucidum with hypoplasia of the optic nerves and chiasm in 1956..
Related Codes (1)
Code
Description
Billable
Details
Q04.4Septo-optic dysplasia of brain

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