Smith-Magenis syndrome

Preferred Label : Smith-Magenis syndrome;

ICD-11 definition : Smith-Magenis syndrome is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.;

ICD-11 synonym : 17p11.2 deletion; 17p11.2 deletion syndrome; Monosomy 17p11.2;

Details

Origin ID

989025532;

UMLS CUI

C0795864;

Currated CISMeF NLP mapping
- 17p11.2 monosomy [MeSH concept]
- Smith-Magenis Syndrome [NCIt concept]
- Smith-Magenis syndrome [ORDO Disease]
- Smith-Magenis syndrome [MeSH concept]
- Smith-Magenis syndrome [DO Concept]
- Smith-Magenis syndrome [MeSH Descriptor]
- Smith-Magenis syndrome [PASCAL descriptor]
- Smith-Magenis syndrome [MedDRA Preferred Term]
- Smith-Magenis syndrome (disorder) [SNOMED CT concept]
- Smith-magenis syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Smith-Magenis Syndrome [NCIt concept]
- Smith-Magenis syndrome [DO Concept]
- Smith-Magenis syndrome [MeSH Descriptor]
- Smith-Magenis syndrome [MeSH concept]
- Smith-Magenis syndrome [ORDO Disease]
- Smith-Magenis syndrome [PASCAL descriptor]
- Smith-Magenis syndrome [MedDRA Preferred Term]
- Smith-Magenis syndrome (disorder) [SNOMED CT concept]
- Smith-magenis syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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