angelman syndrome

Preferred Label : angelman syndrome;

MeSH definition : A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence happy); jerky puppetlike movements (hence puppet); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35);

MeSH synonym : syndrome, happy puppet; syndrome, angelman; puppet children; children, puppet; happy puppet syndrome;

CISMeF synonym : Angelman; angelman's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Angelman syndrome;

Details

Origin ID

D017204;

UMLS CUI

C0162635;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [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)
- Other deletions of part of a chromosome [ICD-10 Sub-category]
- Other deletions of part of a chromosome [ICD-10 Sub-category (who)]
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 [SNOMED Notion]
DO Cross reference
- Angelman syndrome [DO Concept]
Indexing information
- UBE3A protein, human [MeSH Supplementary Concept]
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]
ORDO relation(s)
- Angelman syndrome [ORDO Disease]
Record concept(s)
- angelman syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- happy puppet syndrome (formerly) [MeSH Supplementary Concept]
See also
- intellectual disability [MeSH Descriptor]
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 [NCIt concept]
- Angelman syndrome [ORDO Disease]
- Angelman syndrome [OMIM Phenotype]
- Angelman syndrome [DO Concept]
- Angelman syndrome [PASCAL descriptor]
- Angelman syndrome [Disease (Nov.)]
- Angelman syndrome (disorder) [SNOMED CT concept]
- Angelman's syndrome [MedDRA Preferred Term]
- Happy puppet syndrome [MedDRA LLT]
- angelman syndrome [SNOMED Notion]

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