angelman syndrome

Preferred Label : angelman syndrome;

Details

Origin ID

D4-00624;

UMLS CUI

C0162635;

Automatic exact mappings (from CISMeF team)
- 2q23.1 microdeletion syndrome [ORDO Disease]
- ubiquitin protein ligase E3A [ORDO Gene]
- ubiquitin protein ligase E3A [HGNC gene]
Currated CISMeF NLP mapping
- Angelman Syndrome [NCIt concept]
- Angelman syndrome [PASCAL descriptor]
- Angelman syndrome [DO Concept]
- Angelman syndrome [Disease (Nov.)]
- Angelman syndrome [ICD-11 Subcategory]
- Angelman syndrome [OMIM Phenotype]
- Angelman syndrome [ORDO Disease]
- Angelman syndrome (disorder) [SNOMED CT concept]
- Angelman's syndrome [MedDRA Preferred Term]
- Happy puppet syndrome [MedDRA LLT]
- angelman syndrome [MeSH Descriptor]
- angelman syndrome [MeSH concept]
ICD-10 exact mapping(s)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Angelman syndrome due to maternal 15q11q13 deletion [ORDO Disease]
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Chromosomal anomaly with epilepsy as a major feature [ORDO Disease]
- Paternal uniparental disomy [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Angelman syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Angelman Syndrome [NCIt concept]
- Angelman syndrome [OMIM Phenotype]
- Angelman syndrome [ORDO Disease]
- Angelman syndrome [Disease (Nov.)]
- Angelman syndrome [DO Concept]
- Angelman syndrome [PASCAL descriptor]
- Angelman syndrome (disorder) [SNOMED CT concept]
- Angelman's syndrome [MedDRA Preferred Term]
- Happy puppet syndrome [MedDRA LLT]
- angelman syndrome [MeSH Descriptor]
- angelman syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

Main resources

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