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724999003: Isolated hypoplasia of optic nerve (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3436924011 Isolated optic nerve hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5246539019 Isolated hypoplasia of optic nerve (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5246540017 Isolated hypoplasia of optic nerve en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5246533018 A rare developmental defect during embryogenesis with characteristics of underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the double-ring sign, a ring of hypo or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Isolated hypoplasia of optic nerve (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Isolated hypoplasia of optic nerve (disorder) Is a Hypoplasia of the optic nerve true Inferred relationship Some
Isolated hypoplasia of optic nerve (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Isolated hypoplasia of optic nerve (disorder) Is a Hereditary disorder of the visual system (disorder) false Inferred relationship Some
Isolated hypoplasia of optic nerve (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Isolated hypoplasia of optic nerve (disorder) Occurrence Congenital true Inferred relationship Some 1
Isolated hypoplasia of optic nerve (disorder) Finding site Optic nerve structure true Inferred relationship Some 1
Isolated hypoplasia of optic nerve (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Isolated hypoplasia of optic nerve (disorder) Is a Inherited optic neuropathy false Inferred relationship Some
Isolated hypoplasia of optic nerve (disorder) Is a Developmental hereditary disorder false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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