Mitochondrial neurogastrointestinal encephalomyopathy syndrome

disorder

SNOMED 718214007CUI C0872218

Overview

Mitochondrial neurogastrointestinal encephalomyopathy syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Allodynia

Always present (100%)HP:0012533

Areflexia in lower limbs

Always present (100%)HP:0002522

Double vision

Always present (100%)HP:0000651

Elevated circulating deoxyuridine concentration

Always present (100%)HP:0034277

Elevated circulating thymidine concentration

Always present (100%)HP:0034276

External ophthalmoplegia, progressive

Always present (100%)HP:0000590

Hypoaesthesia

Always present (100%)HP:0033748

Reduced tissue thymidine phosphorylase activity

Always present (100%)HP:6000570

Abdominal cramps

Very frequent (80-99%)HP:0032155

Absent tendon reflexes

Very frequent (80-99%)HP:0001284

Atrophic muscularis propria

Very frequent (80-99%)HP:0025149

Belly bloating

Very frequent (80-99%)HP:0003270

Borborygmi

Very frequent (80-99%)HP:0030143

CPEO

Very frequent (80-99%)HP:0000544

Deglutition disorder

Very frequent (80-99%)HP:0002015

Feeling full quickly when eating

Very frequent (80-99%)HP:0033842

Gastroesophageal reflux disease

Very frequent (80-99%)HP:0002020

GI dysmotility

Very frequent (80-99%)HP:0002579

Leukoencephalopathy

Very frequent (80-99%)HP:0002352

Nausea

Very frequent (80-99%)HP:0002018

Nerve damage causing decreased feeling and movement

Very frequent (80-99%)HP:0007141

No appetite

Very frequent (80-99%)HP:0004396

Small intestinal dysmotility

Very frequent (80-99%)HP:0012850

Upset stomach

Very frequent (80-99%)HP:0002027

Vomiting

Very frequent (80-99%)HP:0002013

Abnormal hands

Frequent (30-79%)HP:0001155

Abnormal liver function

Frequent (30-79%)HP:0002910

Abnormality of the extraocular muscles

Frequent (30-79%)HP:0008049

Abnormality of the mitochondrion

Frequent (30-79%)HP:0012103

Colon diverticula

Frequent (30-79%)HP:0002253

Related Conditions

Leukoencephalopathy(parent)

Progressive external ophthalmoplegia(parent)

Recessive hereditary disorder (autosomal)(parent)

Disorder of gastrointestinal tract(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the visual system(parent)

Mitochondrial encephalomyopathy(parent)

Myopathy of extraocular muscles(parent)

Chronic metabolic disease(parent)

Chronic disorder of digestive system(parent)

Chronic brain syndrome(parent)

Quick Facts

SNOMED CT: 718214007
UMLS CUI: C0872218
Fully Specified Name: Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.