West Syndrome - CISMeF

Preferred Label : West Syndrome;

NCIt definition : A rare autosomal recessive inherited neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spheroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and cognitive dysfunction.;

Alternative definition : NICHD: A form of epilepsy presenting in the first years of life that is characterized by infantile spasms; a distinct high-voltage and disorganized electroencephalogram pattern called hypsarrhythmia; and cognitive dysfunction.;

Details

Origin ID

C84788;

UMLS CUI

C0037769;

Automatic exact mappings (from CISMeF team)
- Other generalized epilepsy and epileptic syndromes [ICD-10 Sub-category]
- Other generalized epilepsy and epileptic syndromes [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Epileptic spasm [HPO term]
- Infantile seizures [HPO term]
- Infantile spasms [ICD-9 code]
- Infantile spasms [HPO term]
- Infantile spasms [ICD-11 Subcategory]
- Infantile spasms [MedDRA Preferred Term]
- Infantile spasms syndrome [ORDO Disease]
- Salaam attacks [MedDRA LLT]
- West syndrome [PASCAL descriptor]
- West syndrome [DO Concept]
- West syndrome (disorder) [SNOMED CT concept]
- West's syndrome [MedDRA LLT]
- infantile spasm [Disease (Nov.)]
- spasms, infantile [MeSH Descriptor]
- spasms, infantile [MeSH concept]
- west syndrome [SNOMED Notion]
DO Cross reference
- West syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile spasms [ICD-9 code]
- Infantile spasms [MedDRA Preferred Term]
- Infantile spasms syndrome [ORDO Disease]
- West syndrome [DO Concept]
- West syndrome (disorder) [SNOMED CT concept]
- West's syndrome [MedDRA LLT]
- infantile epileptic encephalopathy [DO Concept]
- spasms, infantile [MeSH concept]
- spasms, infantile [MeSH Descriptor]
- west syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PLA2G6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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