Severe X-linked mitochondrial encephalomyopathy

disorder

SNOMED 722212004CUI C4302745

Overview

Severe X-linked mitochondrial encephalomyopathy 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.

Abnormal corpus striatum morphology

Very frequent (80-99%)HP:0010994

Areflexia

Very frequent (80-99%)HP:0001284

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Increased variation in muscle fibre size

Very frequent (80-99%)HP:0003557

Muscle wasting

Very frequent (80-99%)HP:0003202

Muscle weakness, generalised

Very frequent (80-99%)HP:0003324

Peripheral neuropathy

Very frequent (80-99%)HP:0009830

Peripheral sensory axonal neuropathy

Very frequent (80-99%)HP:0003390

Psychomotor retardation, moderate

Very frequent (80-99%)HP:0011343

Severe muscular hypotonia

Very frequent (80-99%)HP:0006829

Speech difficulties

Very frequent (80-99%)HP:0000750

Decreased muscle movement

Frequent (30-79%)HP:0002375

Developmental regression

Frequent (30-79%)HP:0002376

Higher than normal levels of lactate in blood

Frequent (30-79%)HP:0002151

Increased connective tissue

Frequent (30-79%)HP:0009025

Increased CSF lactic acid

Frequent (30-79%)HP:0002490

Increased serum pyruvate

Frequent (30-79%)HP:0003542

Involuntary movements

Frequent (30-79%)HP:0004305

Irritable mood

Frequent (30-79%)HP:0000737

Laboured breathing

Frequent (30-79%)HP:0002098

Respiratory function loss

Frequent (30-79%)HP:0002093

Tongue fasciculations/fibrillations

Frequent (30-79%)HP:0001308

Feeding difficulties in infancy

Occasional (5-29%)HP:0008872

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Mitochondrial encephalomyopathy(parent)

Hereditary degenerative disease of central nervous system(parent)

X-linked recessive hereditary disease(parent)

Disorder of mitochondrial respiratory chain complexes(parent)

Inherited metabolic disorder of nervous system(parent)

Degenerative brain disorder(parent)

Quick Facts

SNOMED CT: 722212004
UMLS CUI: C4302745
Fully Specified Name: Severe X-linked mitochondrial encephalomyopathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.