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722990003: Congenital atrophy of optic nerve (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3334096018 Congenital atrophy of optic nerve (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3334097010 Congenital atrophy of optic nerve en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3334098017 Congenital optic atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3334096018 Congenital atrophy of optic nerve (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3334096018 Congenital atrophy of optic nerve (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3334097010 Congenital atrophy of optic nerve en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3334097010 Congenital atrophy of optic nerve en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3334098017 Congenital optic atrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3334098017 Congenital optic atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
533141000274118 Kongenitale Optikusatrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602331000274115 Kongenitale Atrophie des Sehnervs de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6016431000241118 atrophie congénitale du deuxième nerf crânien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6016441000241111 atrophie congénitale du nerf crânien II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6016451000241114 atrophie congénitale du nerf optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6016431000241118 atrophie congénitale du deuxième nerf crânien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6016441000241111 atrophie congénitale du nerf crânien II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6016451000241114 atrophie congénitale du nerf optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
533141000274118 Kongenitale Optikusatrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602331000274115 Kongenitale Atrophie des Sehnervs de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital atrophy of optic nerve (disorder) Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital atrophy of optic nerve (disorder) Is a Optic atrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital atrophy of optic nerve (disorder) Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital atrophy of optic nerve (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital atrophy of optic nerve (disorder) Finding site Optic nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias. Is a True Congenital atrophy of optic nerve (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset X-linked optic atrophy (disorder) Is a True Congenital atrophy of optic nerve (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked intellectual disability Gustavson type (disorder) Is a True Congenital atrophy of optic nerve (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a False Congenital atrophy of optic nerve (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 atrophy of optic nerve (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Wolfram-like syndrome Is a True Congenital atrophy of optic nerve (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Congenital atrophy of optic nerve (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
SPOAN and SPOAN-related disorder Is a False Congenital atrophy of optic nerve (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Late congenital syphilitic optic atrophy Is a True Congenital atrophy of optic nerve (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Is a True Congenital atrophy of optic nerve (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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