hyperexplexia hereditary

Preferred Label : hyperexplexia hereditary;

MeSH synonym : exagerrated startle reflex; stiff baby syndrome; familial startle disease; kok disease; congenital stiff person syndrome;

Details

Origin ID

C538136;

UMLS CUI

C1835614;

Currated CISMeF NLP mapping
- Hereditary hyperekplexia [ICD-11 More detail]
- Hereditary hyperekplexia [ORDO Disease]
- Hereditary hyperekplexia (disorder) [SNOMED CT concept]
- hyperekplexia [DO Concept]
MeSH term(s) associated for indexing
- muscle rigidity [MeSH Descriptor]
ORDO relation(s)
- Hereditary hyperekplexia [ORDO Disease]
Record concept(s)
- Hyperexplexia hereditary [MeSH concept]
See also (suggested by CISMeF)
- Hyperekplexia [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary hyperekplexia [ORDO Disease]
- Hereditary hyperekplexia (disorder) [SNOMED CT concept]
- Hyperekplexia 1 [OMIM Phenotype]
Validated automatic mappings to BTNT
- Hyperekplexia 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Hyperekplexia [OMIM phenotypic series]

Keyword's position in hierarchy(ies) :

Main resources

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