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Myotonia congenita

disorder
SNOMED 726051002CUI C0027127

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Abnormality of the nervous system
HP:0000707
Myopathy
HP:0003198

Related Conditions

Congenital myotonia, autosomal recessive form(child)
Congenital myotonia, autosomal dominant form(child)
Schwartz-Jampel syndrome(child)
Congenital disease(parent)
Myotonic disorder(parent)

Quick Facts

SNOMED CT
726051002
UMLS CUI
C0027127
Fully Specified Name
Myotonia congenita (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
2
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.