visceral myopathy familial external ophthalmoplegia

Preferred Label : visceral myopathy familial external ophthalmoplegia;

MeSH synonym : muscular dystrophy, oculogastrointestinal; intestinal pseudoobstruction with external ophthalmoplegia; visceral myopathy, familial, with external ophthalmoplegia; Oculogastrointestinal Muscular Dystrophy;

MeSH hyponym : Thymidine Phosphorylase Deficiency; MNGIE Disease; Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction; Myoneurogastrointestinal encephalopathy syndrome; Mitochondrial Neurogastrointestinal Encephalopathy Disease; MNGIE Syndrome; Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction; POLIP Syndrome; Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction; Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy, Autosomal Recessive; Mngie, Rrm2b-Related;

Details

Origin ID

C536350;

UMLS CUI

C1848586;

Automatic exact mappings (from CISMeF team)
- Oculogastrointestinal muscular dystrophy [ICD-11 More detail]
CISMeF manual mappings
- Oculogastrointestinal muscular dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Oculogastrointestinal muscular dystrophy (disorder) [SNOMED CT concept]
- Visceral myopathy, familial, with external ophthalmoplegia [OMIM Phenotype]
DO Cross reference
- mitochondrial DNA depletion syndrome 1 [DO Concept]
- mitochondrial DNA depletion syndrome 8a [DO Concept]
- mitochondrial DNA depletion syndrome 8b [DO Concept]
MeSH term(s) associated for indexing
- intestinal pseudo-obstruction [MeSH Descriptor]
- muscular dystrophy, oculopharyngeal [MeSH Descriptor]
- ophthalmoplegia [MeSH Descriptor]
ORDO relation(s)
- Oculogastrointestinal muscular dystrophy [ORDO Disease]
Record concept(s)
- Mitochondrial DNA Depletion Syndrome 1 [MeSH concept]
- Mitochondrial neurogastrointestinal encephalopathy syndrome [MeSH concept]
- Visceral myopathy familial external ophthalmoplegia [MeSH concept]
- mitochondrial DNA depletion syndrome 8A [MeSH concept]
- mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2b-Related [MeSH concept]
- mngie without leukoencephalopathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculogastrointestinal muscular dystrophy [ORDO Disease]
- Oculogastrointestinal muscular dystrophy (disorder) [SNOMED CT concept]
- Visceral myopathy, familial, with external ophthalmoplegia [OMIM Phenotype]

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