Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome

disorder

SNOMED 1186718008CUI C5568562

Overview

Neonatal encephalomyopathy, cardiomyopathy, respiratory distress 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.

Abnormal finger chase test

Always present (100%)HP:0001310

Abnormal retropulsion test

Always present (100%)HP:0002172

Absent tendon reflexes

Always present (100%)HP:0001284

Coarse face

Always present (100%)HP:0000280

Decreased level of coenzyme Q10 in skeletal muscle

Always present (100%)HP:0034369

Dystonic movements

Always present (100%)HP:0001332

EEG with burst suppression

Always present (100%)HP:0010851

High blood ammonia levels

Always present (100%)HP:0001987

Involuntary, rapid, rhythmic eye movements

Always present (100%)HP:0000639

Localized dyscognitive seizure

Always present (100%)HP:0002384

Mental and motor retardation

Always present (100%)HP:0001263

Moderate mental retardation

Always present (100%)HP:0002342

Muscle weakness

Always present (100%)HP:0001324

Palpebronasal fold

Always present (100%)HP:0000286

Postnatal failure to thrive

Always present (100%)HP:0001508

Respiratory insufficiency

Always present (100%)HP:0002093

Scoliosis

Always present (100%)HP:0002650

VSD

Always present (100%)HP:0001629

Deglutition disorder

Very frequent (80-99%)HP:0002015

Higher than normal levels of lactate in blood

Very frequent (80-99%)HP:0002151

2-hydroxyglutarate aciduria

Frequent (30-79%)HP:0032278

Apnea

Frequent (30-79%)HP:0002104

Ataxia

Frequent (30-79%)HP:0001251

Atrophic cerebellum

Frequent (30-79%)HP:0001272

Bradycardia

Frequent (30-79%)HP:0001662

Caesarean section

Frequent (30-79%)HP:0011410

Cardiomyopathy, hypertrophic

Frequent (30-79%)HP:0001639

Cerebral infarct

Frequent (30-79%)HP:0025722

CVI

Frequent (30-79%)HP:0100704

Decreased activity of mitochondrial complex III

Frequent (30-79%)HP:0011924

Related Conditions

Metabolic neuropathy(parent)

Cardiovascular system hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Neonatal cardiovascular disorder(parent)

Mitochondrial encephalomyopathy(parent)

Hypertrophic mitochondrial cardiomyopathy(parent)

Coenzyme Q10 deficiency(parent)

Neonatal metabolic disorder(parent)

Central nervous system complication(parent)

Secondary myopathy(parent)

Inherited metabolic disorder of nervous system(parent)

Quick Facts

SNOMED CT: 1186718008
UMLS CUI: C5568562
Fully Specified Name: Neonatal encephalomyopathy, cardiomyopathy, respiratory distress 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.