muscular dystrophy, oculopharyngeal

Preferred Label : muscular dystrophy, oculopharyngeal;

MeSH definition : An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.;

MeSH synonym : oculopharyngeal muscular dystrophies; dystrophies, oculopharyngeal muscular; dystrophy, oculopharyngeal muscular; muscular dystrophies, oculopharyngeal; oculopharyngeal muscular dystrophy; oculopharyngeal dystrophy; progressive muscular dystrophy, oculopharyngeal type;

MeSH annotation : /vet: coord with MUSCULAR DYSTROPHY, ANIMAL;

Wikipedia link : https://en.wikipedia.org/wiki/Oculopharyngeal dystrophy;

Details

Origin ID

D039141;

UMLS CUI

C0270952;

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)
- Oral Cavity and Lip Precancerous Condition [NCIt concept]
Currated CISMeF NLP mapping
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Oculopharyngeal Muscular Dystrophy [NCIt concept]
- Oculopharyngeal dystrophy [MedDRA Preferred Term]
- Oculopharyngeal muscular dystrophy [PASCAL descriptor]
- Oculopharyngeal muscular dystrophy [ICD-11 More detail]
- Oculopharyngeal muscular dystrophy [ORDO Disease]
- Oculopharyngeal muscular dystrophy (disorder) [SNOMED CT concept]
- Oculopharyngeal muscular dystrophy 1 [OMIM Phenotype]
- oculopharyngeal muscular dystrophy [DO Concept]
- oculopharyngeal muscular dystrophy [Disease (Nov.)]
- oculopharyngeal muscular dystrophy [SNOMED Notion]
DO Cross reference
- oculopharyngeal muscular dystrophy [DO Concept]
Manual BTNT mappings - CISMeF
- Oculopharyngodistal myopathy [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Progressive muscular dystrophy [ORDO Disease]
- Sucking/swallowing disorder associated with a neuromuscular disease [ORDO Disease]
Metaterm(s)
- ophthalmology [CISMeF Metaterm]
- otolaryngology [CISMeF Metaterm]
ORDO relation(s)
- Oculopharyngeal muscular dystrophy [ORDO Disease]
Record concept(s)
- muscular dystrophy, oculopharyngeal [MeSH concept]
Related MeSH Supplementary Concept(s)
- visceral myopathy familial external ophthalmoplegia [MeSH Supplementary Concept]
See also
- Poly(A)-Binding protein II [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculopharyngeal Muscular Dystrophy [NCIt concept]
- Oculopharyngeal dystrophy [MedDRA Preferred Term]
- Oculopharyngeal muscular dystrophy [ORDO Disease]
- Oculopharyngeal muscular dystrophy [PASCAL descriptor]
- Oculopharyngeal muscular dystrophy (disorder) [SNOMED CT concept]
- Oculopharyngeal muscular dystrophy 1 [OMIM Phenotype]
- oculopharyngeal muscular dystrophy [SNOMED Notion]
- oculopharyngeal muscular dystrophy [DO Concept]
- oculopharyngeal muscular dystrophy [Disease (Nov.)]
Validated automatic mappings to NTBT
- muscular dystrophy [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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