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46252003: Progressive 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
77128019 Progressive external ophthalmoplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
77129010 Graefe's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
77130017 Chronic progressive ophthalmoplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
494479015 Chronic progressive external ophthalmoplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
494480017 CPEO - chronic progressive external ophthalmoplegia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
783581018 Progressive external ophthalmoplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2579400011 PEO - Progressive external ophthalmoplegia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
926951000172110 progressive external ophthalmoplegia fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
643681000274110 Progressive externe Ophthalmoplegie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
643691000274112 Ophthalmoplegia progressiva externa de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

15 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Progressive external ophthalmoplegia Is a External ophthalmoplegia true Inferred relationship Some
Progressive external ophthalmoplegia Finding site Eye structure false Inferred relationship Some
Progressive external ophthalmoplegia Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Progressive external ophthalmoplegia Finding site Eye region structure (body structure) false Inferred relationship Some 2
Progressive external ophthalmoplegia Interprets Ocular motility observable false Inferred relationship Some
Progressive external ophthalmoplegia Has interpretation Abnormal false Inferred relationship Some
Progressive external ophthalmoplegia Is a Chronic disease of musculoskeletal system true Inferred relationship Some
Progressive external ophthalmoplegia Clinical course Progressive true Inferred relationship Some 3
Progressive external ophthalmoplegia Is a Chronic nervous system disorder true Inferred relationship Some
Progressive external ophthalmoplegia Is a Chronic disease of ocular adnexa true Inferred relationship Some
Progressive external ophthalmoplegia Finding site Structure of extraocular muscle true Inferred relationship Some 2
Progressive external ophthalmoplegia Interprets mouvement false Inferred relationship Some 5
Progressive external ophthalmoplegia Interprets Movement observable true Inferred relationship Some 4
Progressive external ophthalmoplegia Has interpretation Absent true Inferred relationship Some 4
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions. Is a True Progressive external ophthalmoplegia Inferred relationship Some
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. Is a True Progressive external ophthalmoplegia Inferred relationship Some
A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. Is a True Progressive external ophthalmoplegia Inferred relationship Some
Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. Is a True Progressive 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 True Progressive external ophthalmoplegia Inferred relationship Some
A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form. Is a True Progressive external ophthalmoplegia Inferred relationship Some
A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form. Is a True Progressive external ophthalmoplegia Inferred relationship Some
Bilateral progressive external ophthalmoplegia Is a False Progressive external ophthalmoplegia Inferred relationship Some
Progressive external ophthalmoplegia of left eye (disorder) Is a True Progressive external ophthalmoplegia Inferred relationship Some
Right progressive external ophthalmoplegia Is a True Progressive external ophthalmoplegia Inferred relationship Some

This concept is not in any reference sets

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