Genetic recurrent myoglobinuria

disorder

SNOMED 716721003CUI C4274324

Overview

Genetic recurrent myoglobinuria 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.

Recurrent myoglobinuria

Always present (100%)HP:0003652

Dark urine

Very frequent (80-99%)HP:0040319

Highly elevated serum CPK

Very frequent (80-99%)HP:0030234

Muscle weakness

Very frequent (80-99%)HP:0001324

Pyrexia

Very frequent (80-99%)HP:0001945

Abnormal liver enzymes

Frequent (30-79%)HP:0002910

Abnormality of glycolipid metabolism

Frequent (30-79%)HP:0010969

Diminished deep tendon reflexes

Frequent (30-79%)HP:0001315

Elevated circulating aldolase concentration

Frequent (30-79%)HP:0012544

Exercise-induced myoglobinuria

Frequent (30-79%)HP:0008305

Increased lactate dehydrogenase level

Frequent (30-79%)HP:0025435

Muscle inflammation

Frequent (30-79%)HP:0100614

Muscle pain with exercise

Frequent (30-79%)HP:0003738

Renal failure in adulthood

Frequent (30-79%)HP:0000083

Type 2 muscle fibre atrophy

Frequent (30-79%)HP:0003554

Viral infection-induced rhabdomyolysis

Frequent (30-79%)HP:0003558

Abnormal heart rate

Occasional (5-29%)HP:0011675

Abnormal vocalization

Occasional (5-29%)HP:0002167

Abnormality of jaw muscles

Occasional (5-29%)HP:0045037

Acute kidney injury

Occasional (5-29%)HP:0001919

Chewing difficulties

Occasional (5-29%)HP:0005216

Fatigable weakness of swallowing muscles

Occasional (5-29%)HP:0030195

Flaccid neck

Occasional (5-29%)HP:0000467

Gait disturbance

Occasional (5-29%)HP:0001288

Hyperkalemia

Occasional (5-29%)HP:0002153

Hyperphosphatemia

Occasional (5-29%)HP:0002905

Low blood calcium levels

Occasional (5-29%)HP:0002901

Lower limb muscle weakness

Occasional (5-29%)HP:0007340

Muscle spasm

Occasional (5-29%)HP:0003394

Oliguria

Occasional (5-29%)HP:0100520

Related Conditions

Lipid storage myopathy(parent)

Quick Facts

SNOMED CT: 716721003
UMLS CUI: C4274324
Fully Specified Name: Genetic recurrent myoglobinuria (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.