Visceral myopathy, familial, with external ophthalmoplegia

Preferred Label : Visceral myopathy, familial, with external ophthalmoplegia;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Intestinal pseudoobstruction with external ophthalmoplegia; Muscular dystrophy, oculogastrointestinal;

Inheritance : Autosomal recessive;

Prefixed ID : %277320;

Détails

Origin ID

277320;

UMLS CUI

C1848586;

Automatic exact mappings (from CISMeF team)
- Oculogastrointestinal muscular dystrophy [ICD-11 More detail]
Currated CISMeF NLP mapping
- Oculogastrointestinal muscular dystrophy [ORDO Disease]
- Oculogastrointestinal muscular dystrophy (disorder) [SNOMED CT concept]
- Visceral myopathy familial external ophthalmoplegia [MeSH concept]
- visceral myopathy familial external ophthalmoplegia [MeSH Supplementary Concept]
HPO term(s)
- Abdominal distention [HPO term]
- Abdominal pain [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- External ophthalmoplegia [HPO term]
- Gastroparesis [HPO term]
- Malnutrition [HPO term]
- Ophthalmoplegia [HPO term]
- Peripheral neuropathy [HPO term]
- Ptosis [HPO term]
- Spontaneous esophageal perforation [HPO term]
- Vascular dilatation [HPO term]
ORDO concept(s)
- Oculogastrointestinal muscular dystrophy [ORDO Disease]
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 external ophthalmoplegia [MeSH concept]
- visceral myopathy familial external ophthalmoplegia [MeSH Supplementary Concept]

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