Fatal infantile hypertonic myofibrillar myopathy

disorder

SNOMED 782883004CUI C5190691

Overview

Fatal infantile hypertonic myofibrillar myopathy 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.

Elevated serum creatine phosphokinase

Always present (100%)HP:0003236

Respiratory insufficiency

Always present (100%)HP:0002093

Spasticity and rigidity of muscles

Very frequent (80-99%)HP:0001276

Apnea

Occasional (5-29%)HP:0002104

Muscle biopsy shows dystrophic changes

HP:0003560

Muscle rigidity

HP:0002063

Respiratory failure

HP:0002878

Weak cry

HP:0001612

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Myofibrillar myopathy(parent)

Quick Facts

SNOMED CT: 782883004
UMLS CUI: C5190691
Fully Specified Name: Fatal infantile hypertonic myofibrillar myopathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.