ophthalmoplegia, chronic progressive external

Preferred Label : ophthalmoplegia, chronic progressive external;

MeSH definition : A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422);

MeSH synonym : ocular myopathy of von graefe-fuchs; graefe disease; graefe's disease; progressive external ophthalmoplegia; disease, graefe; mitochondrial ocular myopathy; myopathy, mitochondrial ocular; ocular myopathy, mitochondrial; ocular myopathy of von graefe fuchs; ophthalmoplegia, progressive external; external ophthalmoplegia, progressive; cpeo; ocular muscular dystrophy; dystrophy, ocular muscular; muscular dystrophies, ocular; muscular dystrophy, ocular; ocular muscular dystrophies; chronic progressive external ophthalmoplegia;

CISMeF synonym : dystrophies, ocular muscular; external ophthalmoplegias, progressive; graefes disease; mitochondrial ocular myopathies; myopathies, mitochondrial ocular; ocular myopathies, mitochondrial; ophthalmoplegias, progressive external; progressive external ophthalmoplegias;

MeSH annotation : chronic progressive external ophthalmoplegia with cardiomyopathy & retinitis pigmentosa KEARNS-SAYRE SYNDROME;

Wikipedia link : https://en.wikipedia.org/wiki/Ophthalmoplegia, chronic progressive external;

Details

Origin ID

D017246;

UMLS CUI

C0162674;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Chronic progressive external ophthalmoplegia [ICD-11 More detail]
- External ophthalmoplegia [HPO term]
- Kearns-Sayre syndrome [ICD-11 More detail]
- Kearns-Sayre syndrome (disorder) [SNOMED CT concept]
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Ocular muscular dystrophy [ICD-11 More detail]
- Ocular muscular dystrophy (disorder) [SNOMED CT concept]
- Progressive external ophthalmoplegia [ICD-9 code]
- ocular muscular dystrophy [SNOMED Notion]
Currated CISMeF NLP mapping
- CPEO syndrome [PASCAL descriptor]
- Chronic progressive external ophthalmoplegia [MedDRA LLT]
- Mitochondrial DNA-related progressive external ophthalmoplegia [ORDO Disease]
- Progressive external ophthalmoplegia [ICD-10 Sub-category]
- Progressive external ophthalmoplegia [ORDO Disease]
- Progressive external ophthalmoplegia [ICD-11 Subcategory]
- Progressive external ophthalmoplegia [ICD-10 Sub-category (who)]
- Progressive external ophthalmoplegia [HPO term]
- Progressive external ophthalmoplegia [MedDRA Preferred Term]
- Progressive external ophthalmoplegia (disorder) [SNOMED CT concept]
- chronic progressive external ophthalmoplegia [DO Concept]
- progressive external ophthalmoplegia [SNOMED Notion]
DO Cross reference
- chronic progressive external ophthalmoplegia [DO Concept]
HPO term
- External ophthalmoplegia [HPO term]
- Progressive external ophthalmoplegia [HPO term]
Manual NTBT mappings (CISMeF)
- Mitochondrial disease with eye involvement [ORDO Disease]
- Syndromic disorder with strabismus [ORDO Disease]
Record concept(s)
- ophthalmoplegia, chronic progressive external [MeSH concept]
Related MeSH Supplementary Concept(s)
- gaze palsy, familial horizontal, with progressive scoliosis [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic progressive external ophthalmoplegia [MedDRA LLT]
- Mitochondrial DNA-related progressive external ophthalmoplegia [ORDO Disease]
- Progressive external ophthalmoplegia [ICD-10 Sub-category]
- Progressive external ophthalmoplegia [HPO term]
- Progressive external ophthalmoplegia [ICD-10 Sub-category (who)]
- Progressive external ophthalmoplegia [MedDRA Preferred Term]
- Progressive external ophthalmoplegia [ICD-9 code]
- Progressive external ophthalmoplegia [ICD-11 Subcategory]
- Progressive external ophthalmoplegia (disorder) [SNOMED CT concept]
- chronic progressive external ophthalmoplegia [DO Concept]
- chronic progressive external ophthalmoplegia [Disease (Nov.)]
- progressive external ophthalmoplegia [SNOMED Notion]
Validated automatic mappings to BTNT
- chronic progressive external ophthalmoplegia [Disease (Nov.)]

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