95499004: Hypoplasia of the optic nerve (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve
\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\Hypoplasia of the optic nerve
\Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve
\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\Hypoplasia of the optic nerve
\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\Hypoplasia of the optic nerve
\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\Hypoplasia of the optic nerve
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypoplasia of the optic nerve	Is a	Congenital anomaly of optic disc	false	Inferred relationship	Some
Hypoplasia of the optic nerve	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Hypoplasia of the optic nerve	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Finding site	Optic disc structure	false	Inferred relationship	Some	1
Hypoplasia of the optic nerve	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Hypoplasia of the optic nerve	Occurrence	Congenital	false	Inferred relationship	Some
Hypoplasia of the optic nerve	Is a	Congenital anomaly of optic nerve	true	Inferred relationship	Some
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	4
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	6
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	2
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	1
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Hypoplasia of the optic nerve	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	1
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Hypoplasia of the optic nerve	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	1
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	2
Hypoplasia of the optic nerve	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	1
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	2
Hypoplasia of the optic nerve	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Hypoplasia of the optic nerve	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	2
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	true	Inferred relationship	Some	1
Hypoplasia of the optic nerve	Occurrence	Congenital	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Finding site	Optic nerve structure	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Associated morphology	Hypoplasia	false	Inferred relationship	Some	3
Hypoplasia of the optic nerve	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypoplasia of the optic nerve	Is a	Congenital and developmental anomalies of the nervous system	false	Inferred relationship	Some
Hypoplasia of the optic nerve	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial hypoplasia of optic disc	Is a	False	Hypoplasia of the optic nerve	Inferred relationship	Some
Sectorial hypoplasia of optic disc	Is a	False	Hypoplasia of the optic nerve	Inferred relationship	Some
Septo-optic dysplasia sequence	Is a	False	Hypoplasia of the optic nerve	Inferred relationship	Some
Hypoplasia of optic disc (disorder)	Is a	True	Hypoplasia of the optic nerve	Inferred relationship	Some
Partial hypoplasia of optic disc	Is a	False	Hypoplasia of the optic nerve	Inferred relationship	Some
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.	Is a	True	Hypoplasia of the optic nerve	Inferred relationship	Some
Congenital hypoplasia of right optic nerve (disorder)	Is a	True	Hypoplasia of the optic nerve	Inferred relationship	Some
Congenital hypoplasia of left optic nerve (disorder)	Is a	True	Hypoplasia of the optic nerve	Inferred relationship	Some
Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.	Is a	True	Hypoplasia of the optic nerve	Inferred relationship	Some
Hypoplasia of optic nerve due to central nervous system malformation	Is a	True	Hypoplasia of the optic nerve	Inferred relationship	Some
Optic nerve hypoplasia due to endocrine deficiency	Is a	True	Hypoplasia of the optic nerve	Inferred relationship	Some
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.	Is a	True	Hypoplasia of the optic nerve	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
158181013	Hypoplasia of the optic nerve	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
839664014	Hypoplasia of the optic nerve (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235915012	Optic nerve hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235916013	ONH - Optic nerve hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2966695018	Hypoplasia of optic nerve	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1839781000195114	ipoplasia del nervo ottico	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4730891000241116	hypoplasie nerveuse optique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
627191000274114	Hypoplasie des Nervus opticus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
627201000274111	Sehnerv-Hypoplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module