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128327004: Congenital anomaly of ocular adnexa (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
206614012 Congenital anomaly of ocular adnexa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
732305017 Congenital anomaly of ocular adnexa (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5830931000241116 anomalie congénitale des annexes de l'œil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5830941000241114 anomalie congénitale des annexes oculaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
522171000274119 Kongenitale Anomalie des Augenanhangsgebildes de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
630301000274119 Kongenitale Anomalie der okulären Adnexe de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

179 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of ocular adnexa Is a Congenital structural abnormality of orbit proper (disorder) false Inferred relationship Some
Congenital anomaly of ocular adnexa Is a Disorder of ocular adnexa (disorder) true Inferred relationship Some
Congenital anomaly of ocular adnexa Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of ocular adnexa Occurrence Congenital false Inferred relationship Some
Congenital anomaly of ocular adnexa Finding site Orbital region structure false Inferred relationship Some 1
Congenital anomaly of ocular adnexa Finding site Ocular adnexa structure true Inferred relationship Some 1
Congenital anomaly of ocular adnexa Finding site Structure of orbit proper false Inferred relationship Some 2
Congenital anomaly of ocular adnexa Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of ocular adnexa Is a Congenital anomaly of head true Inferred relationship Some
Congenital anomaly of ocular adnexa Finding site Ocular adnexa structure false Inferred relationship Some 1
Congenital anomaly of ocular adnexa Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of ocular adnexa Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of ocular adnexa Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of ocular adnexa Finding site Ocular adnexa structure false Inferred relationship Some 2
Congenital anomaly of ocular adnexa Is a Congenital anomaly of visual system true Inferred relationship Some
Congenital anomaly of ocular adnexa Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of ocular adnexa Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of ocular adnexa Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital anomaly of lacrimal system Is a False Congenital anomaly of ocular adnexa Inferred relationship Some
Supernumerary eye muscle Is a True Congenital anomaly of ocular adnexa Inferred relationship Some
Congenital structural abnormality of eyelid Is a True Congenital anomaly of ocular adnexa Inferred relationship Some
Congenital absence of eye bulge Is a False Congenital anomaly of ocular adnexa Inferred relationship Some
Congenital exophthalmos Is a False Congenital anomaly of ocular adnexa Inferred relationship Some
Congenital conjunctival cyst Is a True Congenital anomaly of ocular adnexa Inferred relationship Some
Congenital absence of lacrimal apparatus Is a False Congenital anomaly of ocular adnexa Inferred relationship Some
Congenital anomaly of lacrimal system Is a True Congenital anomaly of ocular adnexa Inferred relationship Some
Congenital malformation of the eyebrow Is a True Congenital anomaly of ocular adnexa Inferred relationship Some
Cilioretinal artery Is a False Congenital anomaly of ocular adnexa Inferred relationship Some
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Is a True Congenital anomaly of ocular adnexa Inferred relationship Some
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. Is a False Congenital anomaly of ocular adnexa Inferred relationship Some
Strabismus fixus Is a True Congenital anomaly of ocular adnexa Inferred relationship Some
Oculopharyngeal muscular dystrophy (disorder) Is a True Congenital anomaly of ocular adnexa Inferred relationship Some
Multiple supernumerary eye muscles Is a False Congenital anomaly of ocular adnexa Inferred relationship Some
Hypoplasia of eye muscle Is a True Congenital anomaly of ocular adnexa Inferred relationship Some
Congenital superior sulcus anomaly of orbit Is a True Congenital anomaly of ocular adnexa Inferred relationship Some
Congenital malformation of vitreous humour Is a True Congenital anomaly of ocular adnexa Inferred relationship Some
Congenital combined bony and soft tissue deformity of orbit (disorder) Is a True Congenital anomaly of ocular adnexa Inferred relationship Some
Congenital malformation of blood vessel of orbit proper (disorder) Is a True Congenital anomaly of ocular adnexa Inferred relationship Some

This concept is not in any reference sets

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