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95509009: Congenital strabismus (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
158193016 Congenital strabismus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
839677017 Congenital strabismus (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4731071000241118 strabisme congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
627371000274113 Kongenitales Schielen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
627381000274110 Kongenitaler Strabismus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

25 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital strabismus Is a Congenital anomaly of head false Inferred relationship Some
Congenital strabismus Is a Strabismus true Inferred relationship Some
Congenital strabismus Is a Congenital anomaly of visual system true Inferred relationship Some
Congenital strabismus Finding site Structure of nervous system (body structure) false Inferred relationship Some 2
Congenital strabismus Occurrence Congenital false Inferred relationship Some
Congenital strabismus Finding site Eye structure false Inferred relationship Some
Congenital strabismus Finding site Eye region structure (body structure) false Inferred relationship Some
Congenital strabismus Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital strabismus Associated morphology Misalignment (morphologic abnormality) false Inferred relationship Some 1
Congenital strabismus Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital strabismus Associated morphology anomalie congénitale false Inferred relationship Some 3
Congenital strabismus Is a Disorder of eye region (disorder) true Inferred relationship Some
Congenital strabismus Interprets Ocular muscle balance false Inferred relationship Some 2
Congenital strabismus Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways false Inferred relationship Some 1
Congenital strabismus Has interpretation Abnormal false Inferred relationship Some 2
Congenital strabismus Interprets Ocular motility observable false Inferred relationship Some
Congenital strabismus Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital strabismus Associated morphology anomalie congénitale false Inferred relationship Some 3
Congenital strabismus Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital strabismus Associated morphology anomalie congénitale false Inferred relationship Some 3
Congenital strabismus Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital strabismus Associated morphology anomalie congénitale false Inferred relationship Some 3
Congenital strabismus Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital strabismus Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital strabismus Occurrence Congenital false Inferred relationship Some 3
Congenital strabismus Associated morphology anomalie du développement false Inferred relationship Some 3
Congenital strabismus Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways false Inferred relationship Some 3
Congenital strabismus Is a Congenital anomaly of head true Inferred relationship Some
Congenital strabismus Occurrence Congenital true Inferred relationship Some 1
Congenital strabismus Associated morphology anomalie du développement false Inferred relationship Some 1
Congenital strabismus Finding site Eye region structure (body structure) true Inferred relationship Some 1
Congenital strabismus Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital strabismus Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
General fibrosis syndrome Is a False Congenital strabismus Inferred relationship Some
Duane's syndrome Is a True Congenital strabismus Inferred relationship Some
Duane syndrome with vertical deviation (disorder) Is a False Congenital strabismus Inferred relationship Some
Congenital exotropia Is a True Congenital strabismus Inferred relationship Some
Strabismus fixus Is a True Congenital strabismus Inferred relationship Some
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Is a True Congenital strabismus Inferred relationship Some
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. Is a True Congenital strabismus Inferred relationship Some
A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. Is a True Congenital strabismus Inferred relationship Some
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. Is a True Congenital strabismus Inferred relationship Some
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Is a True Congenital strabismus Inferred relationship Some
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. Is a True Congenital strabismus Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported. Is a True Congenital strabismus 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 True Congenital strabismus Inferred relationship Some

This concept is not in any reference sets

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