Angelman syndrome

ICD-11 code : LD90.0;

Preferred Label : Angelman syndrome;

ICD-11 definition : Angelman syndrome is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic (microcephaly, macrostomia, maxillary hypoplasia, prognathia), behavioral (outbursts of laughter with hand flapping, a happy demeanor, hyperactivity without aggression, short attention span, excitability and sleeping problems with decreased need to sleep, increased sensitivity to heat, attraction to and fascination with water), and neurological features (a puppet-like gait, ataxia and epileptic seizures).;

Details

Origin ID

1106558408;

Automatic exact mappings (from CISMeF team)
- Other deletions of part of a chromosome [ICD-10 Sub-category]
- ubiquitin protein ligase E3A [ORDO Gene]
- ubiquitin protein ligase E3A [HGNC gene]
Currated CISMeF NLP mapping
- Angelman Syndrome [NCIt concept]
- Angelman syndrome [DO Concept]
- Angelman syndrome [OMIM Phenotype]
- Angelman syndrome [PASCAL descriptor]
- Angelman syndrome [ORDO Disease]
- Angelman syndrome [Disease (Nov.)]
- Angelman syndrome (disorder) [SNOMED CT concept]
- Angelman's syndrome [MedDRA Preferred Term]
- Happy puppet syndrome [MedDRA LLT]
- angelman syndrome [MeSH concept]
- angelman syndrome [SNOMED Notion]
- angelman syndrome [MeSH Descriptor]
ICD-10 Mapping
- Other deletions of part of a chromosome [ICD-10 Sub-category]

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