Hereditary hyperekplexia

Preferred Label : Hereditary hyperekplexia;

ICD-11 definition : Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Hereditary hyperekplexia manifests shortly after birth with violent jerking to noise and touch, and massive and sustained stiffening of the trunk and limbs, clenching fists, and attacks of a high-frequency trembling. Newborns are at risk for sudden infant death due to laryngospasm and cardiorespiratory failure.;

ICD-11 synonym : Congenital stiff man syndrome; Stiff baby syndrome; Familial Startle disease; Kok disease; Hereditary hyperexplexia; Hyperekplexia;

Details

Origin ID

988250063;

Automatic exact mappings (from CISMeF team)
- Exaggerated startle response [HPO term]
- Hyperekplexia [OMIM phenotypic series]
- Startle epilepsy [PASCAL descriptor]
- Stiff-Person syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hereditary Hyperekplexia [MeSH concept]
- Hereditary hyperekplexia [ORDO Disease]
- Hereditary hyperekplexia (disorder) [SNOMED CT concept]
- Hyperekplexia 1 [OMIM Phenotype]
- Hyperexplexia hereditary [MeSH concept]
- hyperexplexia hereditary [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Hyperekplexia [MedDRA LLT]
- Hyperekplexia [ORDO Disease]
- Hyperekplexia [MeSH Descriptor]
- Hyperekplexia [MeSH concept]
- Hyperexplexia [MedDRA Preferred Term]
- Hyperexplexia (finding) [SNOMED CT concept]
- hyperekplexia [DO Concept]

Keyword's position in hierarchy(ies) :

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