Angelman Syndrome

Preferred Label : Angelman Syndrome;

NCIt definition : A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene.;

Details

Origin ID

C75462;

UMLS CUI

C0162635;

Automatic exact mappings (from CISMeF team)
- Other deletions of part of a chromosome [ICD-10 Sub-category]
- Other deletions of part of a chromosome [ICD-10 Sub-category (who)]
- ubiquitin protein ligase E3A [ORDO Gene]
- ubiquitin protein ligase E3A [HGNC gene]
Currated CISMeF NLP mapping
- 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]
- angelman syndrome [SNOMED Notion]
DO Cross reference
- Angelman syndrome [DO Concept]
See also inter- (CISMeF)
- 2q23.1 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Angelman syndrome [ORDO Disease]
- Angelman syndrome [OMIM Phenotype]
- Angelman syndrome [PASCAL descriptor]
- Angelman syndrome [DO Concept]
- Angelman syndrome [Disease (Nov.)]
- Angelman syndrome (disorder) [SNOMED CT concept]
- Angelman's syndrome [MedDRA Preferred Term]
- Happy puppet syndrome [MedDRA LLT]
- angelman syndrome [MeSH Descriptor]
- angelman syndrome [SNOMED Notion]
- angelman syndrome [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 15 [NCIt concept]

Keyword's position in hierarchy(ies) :

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