Severe Neonatal Episodic Laryngospasm

Preferred Label : Severe Neonatal Episodic Laryngospasm;

NCIt definition : Myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by severe episodes of laryngospasm in the neonatal period, which can be alleviated by channel blockers.;

Details

Origin ID

C122792;

UMLS CUI

C3149517;

Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Myotonia, potassium-aggravated [OMIM Phenotype]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- SCN4A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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