1285319006: Isolated aplasia of optic nerve (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Disorder of the central nervous system (disorder)\...
• \Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Eye / vision finding\Visual system disorder (disorder)\...
• \Congenital anomaly of visual system\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Aplasia of optic nerve (disorder)\A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5400754019	A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400755018	A rare developmental defect during embryogenesis characterised by congenital absence of the optic nerve head, optic nerve fibres, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5246529013	Isolated aplasia of optic nerve (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5246530015	Isolated optic nerve aplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5246538010	Isolated aplasia of optic nerve	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
567531000274118	Isolierte Aplasie des Sehnervs	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
595401000274118	Isolierte Sehnerv-Aplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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