Hyperekplexia - CISMeF

Preferred Label : Hyperekplexia;

MeSH definition : A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.;

MeSH synonym : Hyperekplexias;

Détails

Origin ID

D000071017;

UMLS CUI

C0234166;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Exaggerated startle response [HPO term]
- Hyperekplexia [OMIM phenotypic series]
- Startle disease [MedDRA LLT]
- Startle epilepsy [PASCAL descriptor]
CISMeF manual mappings
- Hyperekplexia [MedDRA LLT]
- Hyperekplexia [ORDO Disease]
- Hyperexplexia [MedDRA Preferred Term]
- Hyperexplexia (finding) [SNOMED CT concept]
- hyperexplexia [SNOMED Notion]
Currated CISMeF NLP mapping
- Hereditary hyperekplexia [ORDO Disease]
- hyperekplexia [DO Concept]
- hyperekplexia [Disease (Nov.)]
DO Cross reference
- hyperekplexia 1 [DO Concept]
HPO term
- Exaggerated startle response [HPO term]
Record concept(s)
- Hyperekplexia [MeSH concept]
See also (suggested by CISMeF)
- hyperekplexia and epilepsy [MeSH Supplementary Concept]
- hyperexplexia hereditary [MeSH Supplementary Concept]
Semantic type(s)
- Sign or Symptom [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperekplexia [MedDRA LLT]
- Hyperekplexia [ORDO Disease]
- Hyperexplexia [MedDRA Preferred Term]
- Hyperexplexia (finding) [SNOMED CT concept]
- Startle disease [MedDRA LLT]
- hyperekplexia [DO Concept]
- hyperekplexia [Disease (Nov.)]
- hyperexplexia [SNOMED Notion]
Validated automatic mappings to BTNT
- Hereditary hyperekplexia [ICD-11 More detail]
- Hereditary hyperekplexia (disorder) [SNOMED CT concept]

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