57130002: Myopathy of extraocular muscles (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles
\Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles

\General finding of soft tissue\Disorder of soft tissue\...

\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles

\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles

\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles

\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles
\Disease\Disorder of muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles
\Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myopathy of extraocular muscles	Is a	Myopathy	false	Inferred relationship	Some
Myopathy of extraocular muscles	Is a	Disorder of orbit	false	Inferred relationship	Some
Myopathy of extraocular muscles	Finding site	Structure of extraocular muscle	true	Inferred relationship	Some	1
Myopathy of extraocular muscles	Is a	Disorder of orbit proper (disorder)	false	Inferred relationship	Some
Myopathy of extraocular muscles	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Myopathy of extraocular muscles	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Myopathy of extraocular muscles	Is a	Disorder of extraocular muscle	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
General fibrosis syndrome	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Superior oblique myokymia	Is a	True	Myopathy of extraocular muscles	Inferred relationship	Some
Superior rectus underaction	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Inferior rectus underaction	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Medial rectus underaction (disorder)	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Inferior oblique underaction	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Disorder of extraocular muscle	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Brown's tendon sheath syndrome	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Recurrent painful ophthalmoplegic neuropathy	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Oculopharyngeal muscular dystrophy (disorder)	Is a	True	Myopathy of extraocular muscles	Inferred relationship	Some
Malignant neoplasm of extraocular muscle of orbit	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Multiple supernumerary eye muscles	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Hypoplasia of eye muscle	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Inferior oblique overaction (disorder)	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Superior oblique overaction (disorder)	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Double elevator palsy	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Foville syndrome	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Orbital myositis	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Extraocular muscle restriction (disorder)	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Supernumerary eye muscle	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Strabismus fixus	Is a	False	Myopathy of extraocular muscles	Inferred relationship	Some
Jaw-winking syndrome	Is a	True	Myopathy of extraocular muscles	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	Myopathy of extraocular muscles	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	Myopathy of extraocular muscles	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	Myopathy of extraocular muscles	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	Myopathy of extraocular muscles	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	Myopathy of extraocular muscles	Inferred relationship	Some
Disorder of extraocular muscle of right eye (disorder)	Is a	True	Myopathy of extraocular muscles	Inferred relationship	Some
Disorder of extraocular muscle of left eye (disorder)	Is a	True	Myopathy of extraocular muscles	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
95013010	Myopathy of extraocular muscles	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
795718019	Myopathy of extraocular muscles (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2647128014	Extraocular myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4577251000241114	myopathie des muscles extrinsèques de l'oeil	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
533501000274112	Extraokuläre Myopathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1059541000195110	Myopathie der äusseren Augenmuskeln	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module