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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
5403348016 A rare developmental defect during embryogenesis characterized by 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
5403349012 A rare developmental defect during embryogenesis characterised by 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
3436923017 Isolated optic nerve hypoplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
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
5403348016 A rare developmental defect during embryogenesis characterized by 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
5403349012 A rare developmental defect during embryogenesis characterised by 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
602871000274111 Isolierte Hypoplasie des Nervus opticus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602881000274113 Isolierte Sehnerv-Hypoplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6336461000241116 hypoplasie isolée du deuxième nerf crânien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6336471000241112 hypoplasie isolée du nerf optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6336481000241114 hypoplasie isolée du nerf crânien II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6336461000241116 hypoplasie isolée du deuxième nerf crânien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6336471000241112 hypoplasie isolée du nerf optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6336481000241114 hypoplasie isolée du nerf crânien II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602871000274111 Isolierte Hypoplasie des Nervus opticus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602881000274113 Isolierte Sehnerv-Hypoplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Isolated hypoplasia of optic nerve (disorder) Is a Hypoplasia of the optic nerve true Inferred relationship Existential restriction modifier (core metadata concept)
Isolated hypoplasia of optic nerve (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Isolated hypoplasia of optic nerve (disorder) Is a Hereditary disorder of the visual system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Isolated hypoplasia of optic nerve (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated hypoplasia of optic nerve (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated hypoplasia of optic nerve (disorder) Finding site Optic nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated hypoplasia of optic nerve (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated hypoplasia of optic nerve (disorder) Is a Inherited optic neuropathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Isolated hypoplasia of optic nerve (disorder) Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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