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127329003: Congenital anomaly of visual system (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
617018 Congenital anomaly of visual system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
731404017 Congenital anomaly of visual system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
617018 Congenital anomaly of visual system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
617018 Congenital anomaly of visual system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
731404017 Congenital anomaly of visual system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
731404017 Congenital anomaly of visual system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
562581000274116 Kongenitale Anomalie des visuellen Systems de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
630151000274115 Kongenitale Fehlbildung des visuellen Systems de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5901021000241113 anomalie congénitale du système visuel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5901021000241113 anomalie congénitale du système visuel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
562581000274116 Kongenitale Anomalie des visuellen Systems de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
630151000274115 Kongenitale Fehlbildung des visuellen Systems de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

693 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of visual system Is a Congenital anomaly of nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of visual system Is a Visual system disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of visual system Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of visual system Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of visual system Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of visual system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of visual system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of visual system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of visual system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of visual system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of visual system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of visual system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of visual system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of visual system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of visual system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of visual system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of visual system Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital anomaly of visual system Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital anomaly of visual system Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital anomaly of visual system Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of visual system Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of visual system Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of visual system Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital anomaly of eye Is a False Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of optic nerve Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital strabismus Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Encephalocele of orbit Is a False Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Alstrom syndrome Is a False Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi's syndrome Is a False Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital blindness Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral-retinal arteriovenous aneurysm (disorder) Is a False Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Cilioretinal artery (finding) Is a False Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a False Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of ocular adnexa (disorder) Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eye Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital structural abnormality of orbit proper (disorder) Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital vascular anomaly of eye Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of eye, ear and neck Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Oculogastrointestinal muscular dystrophy Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of optic chiasma (disorder) Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of the eyebrow Is a False Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Didymosis aplasticosebacea (disorder) Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Encephalocraniocutaneous lipomatosis Is a False Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
14q22q23 microdeletion syndrome Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
Ocular motor apraxia Cogan type (disorder) Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)
CIMDAG syndrome Is a True Congenital anomaly of visual system Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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