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95502000: Congenital anomaly of optic nerve (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
158184017 Congenital anomaly of optic nerve en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
839670015 Congenital anomaly of optic nerve (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4730951000241119 anomalie congénitale du nerf optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
627251000274112 Kongenitale Anomalie des Nervus opticus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
627261000274110 Kongenitale Anomalie des Sehnervs de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

43 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of optic nerve Is a Congenital anomaly of visual system true Inferred relationship Some
Congenital anomaly of optic nerve Is a Congenital anomaly of head false Inferred relationship Some
Congenital anomaly of optic nerve Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Congenital anomaly of optic nerve Is a Congenital anomaly of central nervous system true Inferred relationship Some
Congenital anomaly of optic nerve Is a Disorder of optic nerve true Inferred relationship Some
Congenital anomaly of optic nerve Occurrence Congenital false Inferred relationship Some
Congenital anomaly of optic nerve Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of optic nerve Finding site Structure of central nervous system (body structure) false Inferred relationship Some 1
Congenital anomaly of optic nerve Associated morphology anomalie du développement false Inferred relationship Some 1
Congenital anomaly of optic nerve Finding site Optic nerve structure true Inferred relationship Some 1
Congenital anomaly of optic nerve Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of optic nerve Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of optic nerve Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of optic nerve Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of optic nerve Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of optic nerve Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of optic nerve Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of optic nerve Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of optic nerve Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of optic nerve Finding site Optic nerve structure false Inferred relationship Some 1
Congenital anomaly of optic nerve Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of optic nerve Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of optic nerve Finding site Optic nerve structure false Inferred relationship Some 2
Congenital anomaly of optic nerve Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of optic nerve Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of optic nerve Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital anomaly of optic disc Is a True Congenital anomaly of optic nerve Inferred relationship Some
Hypoplasia of the optic nerve Is a True Congenital anomaly of optic nerve Inferred relationship Some
Oculocerebral dysplasia syndrome Is a False Congenital anomaly of optic nerve Inferred relationship Some
Aplasia of optic nerve (disorder) Is a True Congenital anomaly of optic nerve Inferred relationship Some
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. Is a True Congenital anomaly of optic nerve Inferred relationship Some
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Is a True Congenital anomaly of optic nerve Inferred relationship Some
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Is a True Congenital anomaly of optic nerve Inferred relationship Some

This concept is not in any reference sets

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