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95486002: Congenital blindness (disorder)

Status: current, Not 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
158165015 Congenital blindness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
839649014 Congenital blindness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1851591000195118 cecità congenita it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
317851000172116 cécité congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
392381000274110 Angeborene Blindheit de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
627021000274112 Kongenitale Blindheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital blindness Is a Congenital anomaly of eye false Inferred relationship Some
Congenital blindness Is a Vision problem false Inferred relationship Some
Congenital blindness Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital blindness Occurrence Congenital false Inferred relationship Some
Congenital blindness Finding site Eye structure false Inferred relationship Some
Congenital blindness Finding site Structure of nervous system (body structure) false Inferred relationship Some 2
Congenital blindness Finding site Orbital region structure false Inferred relationship Some 1
Congenital blindness Is a Congenital anomaly of visual system true Inferred relationship Some
Congenital blindness Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways true Inferred relationship Some 1
Congenital blindness Is a Blindness AND/OR vision impairment level true Inferred relationship Some
Congenital blindness Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital blindness Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital blindness Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital blindness Interprets Vision observable (observable entity) false Inferred relationship Some 3
Congenital blindness Has interpretation Impaired false Inferred relationship Some 1
Congenital blindness Has interpretation Abnormal false Inferred relationship Some 4
Congenital blindness Interprets Vision, function (observable entity) false Inferred relationship Some 3
Congenital blindness Interprets Visual function false Inferred relationship Some 4
Congenital blindness Associated morphology anomalie congénitale false Inferred relationship Some 3
Congenital blindness Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital blindness Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital blindness Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital blindness Interprets Visual function false Inferred relationship Some 4
Congenital blindness Interprets Visual function false Inferred relationship Some 3
Congenital blindness Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital blindness Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital blindness Interprets Visual function false Inferred relationship Some 1
Congenital blindness Interprets Visual function false Inferred relationship Some 4
Congenital blindness Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital blindness Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital blindness Occurrence Congenital false Inferred relationship Some 3
Congenital blindness Associated morphology anomalie du développement false Inferred relationship Some 3
Congenital blindness Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways false Inferred relationship Some 3
Congenital blindness Occurrence Congenital true Inferred relationship Some 1
Congenital blindness Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital blindness Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Is a True Congenital blindness Inferred relationship Some

This concept is not in any reference sets

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