734031008: Congenital absence of optic chiasma (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Optic chiasm disorder\Congenital achiasma
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Optic chiasm disorder\Congenital achiasma
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Optic chiasm disorder\Congenital achiasma

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Optic chiasm disorder\Congenital achiasma

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disorder of head\Encephalopathy\Optic chiasm disorder\Congenital achiasma
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma

\Eye / vision finding\Visual system disorder\...

\Congenital anomaly of visual system\Congenital achiasma

\Disorder of visual pathways\Optic chiasm disorder\Congenital achiasma

\Disease\Disorder of embryonic structure\Optic chiasm disorder\Congenital achiasma
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital achiasma
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Optic chiasm disorder\Congenital achiasma
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Optic chiasm disorder\Congenital achiasma
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Optic chiasm disorder\Congenital achiasma
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Optic chiasm disorder\Congenital achiasma
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disease\Disorder of head\Encephalopathy\Optic chiasm disorder\Congenital achiasma
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital achiasma
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital achiasma
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital achiasma
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Congenital achiasma

Status: current, Defined. 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 Case insensitive SNOMED CT core

3482042015 Congenital achiasma en Synonym Active Case insensitive SNOMED CT core

3482043013 Congenital absence of optic chiasma en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital achiasma	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital achiasma	Associated morphology	Absence	true	Inferred relationship	Some	1
Congenital achiasma	Is a	Congenital absence of part of brain	true	Inferred relationship	Some
Congenital achiasma	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Some
Congenital achiasma	Is a	Optic chiasm disorder	true	Inferred relationship	Some
Congenital achiasma	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Congenital achiasma	Is a	Congenital anomaly of visual system	true	Inferred relationship	Some
Congenital achiasma	Is a	Congenital anomaly of central nervous system	false	Inferred relationship	Some
Congenital achiasma	Is a	Congenital absence	false	Inferred relationship	Some
Congenital achiasma	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital achiasma	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital achiasma	Finding site	Entire optic chiasma	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3482041010	Congenital absence of optic chiasma (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3482042015	Congenital achiasma	en	Synonym	Active	Case insensitive	SNOMED CT core
3482043013	Congenital absence of optic chiasma	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core