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734031008: Congenital absence of optic chiasma (disorder)


Status: current, 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
3482041010 Congenital absence of optic chiasma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3482042015 Congenital achiasma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3482043013 Congenital absence of optic chiasma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403879013 Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403880011 Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterised by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibres to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3482041010 Congenital absence of optic chiasma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3482042015 Congenital achiasma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3482043013 Congenital absence of optic chiasma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3482044019 A rare genetic non-syndromic cranial nerve and nuclear aplasia malformation. The disease is characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3482045018 A rare genetic non-syndromic cranial nerve and nuclear aplasia malformation. The disease is characterised by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibres to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403879013 Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403880011 Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterised by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibres to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
539461000274114 Kongenitale Achiasmie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3455191001000116 Achiasmie, kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5916281000241114 absence congénitale du chiasma optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5916281000241114 absence congénitale du chiasma optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
539461000274114 Kongenitale Achiasmie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3455191001000116 Achiasmie, kongenitale 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
Congenital absence of optic chiasma (disorder) Is a Optic chiasm disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of optic chiasma (disorder) Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of optic chiasma (disorder) Is a Congenital anomaly of visual system true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of optic chiasma (disorder) Is a Congenital anomaly of central nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of optic chiasma (disorder) Is a Congenital absence false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of optic chiasma (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of optic chiasma (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of optic chiasma (disorder) Finding site Entire optic chiasma (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of optic chiasma (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of optic chiasma (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of optic chiasma (disorder) Is a Congenital absence of part of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of optic chiasma (disorder) Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of optic chiasma (disorder) Is a Hemianencephaly true 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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