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19373007: External ophthalmoplegia (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
32650015 External ophthalmoplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
32651016 Paralysis of the extraocular muscles en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
32652011 Extraocular palsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747423015 External ophthalmoplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7049681000241119 paralysie d'un muscle oculaire extrinsèque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7049691000241117 paralysie d'un muscle extrinsèque de l'œil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7049701000241117 ophtalmoplégie externe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
557351000274110 Ophthalmoplegia externa de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
639241000274117 Externe Ophthalmoplegie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


28 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
External ophthalmoplegia Is a Incomitant dissociation false Inferred relationship Some
External ophthalmoplegia Is a Ophthalmoplegia true Inferred relationship Some
External ophthalmoplegia Finding site Structure of nervous system (body structure) true Inferred relationship Some 2
External ophthalmoplegia Finding site Eye structure false Inferred relationship Some
External ophthalmoplegia Finding site Eye region structure (body structure) false Inferred relationship Some 1
External ophthalmoplegia Is a Disorder of eye region (disorder) false Inferred relationship Some
External ophthalmoplegia Has interpretation Abnormal false Inferred relationship Some
External ophthalmoplegia Interprets Ocular motility observable false Inferred relationship Some
External ophthalmoplegia Is a Disorder of extraocular muscle true Inferred relationship Some
External ophthalmoplegia Finding site Structure of extraocular muscle true Inferred relationship Some 1
External ophthalmoplegia Interprets mouvement false Inferred relationship Some 3
External ophthalmoplegia Interprets Movement observable true Inferred relationship Some 4
External ophthalmoplegia Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group
Progressive external ophthalmoplegia Is a True External ophthalmoplegia Inferred relationship Some
Total ophthalmoplegia Is a True External ophthalmoplegia Inferred relationship Some
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. Is a True External ophthalmoplegia Inferred relationship Some
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. Is a True External ophthalmoplegia Inferred relationship Some
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. Is a True External ophthalmoplegia Inferred relationship Some
A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. Is a False External ophthalmoplegia Inferred relationship Some
Recurrent painful ophthalmoplegic neuropathy Is a True External ophthalmoplegia 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 External ophthalmoplegia Inferred relationship Some
Congenital multi-minicore disease with external ophthalmoplegia (disorder) Is a True External ophthalmoplegia Inferred relationship Some

This concept is not in any reference sets

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