Smith-Magenis syndrome

Preferred Label : Smith-Magenis syndrome;

MeSH definition : Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.;

MeSH synonym : syndrome, Smith-Magenis; smith magenis syndrome; chromosome 17p11.2 deletion syndrome;

CISMeF synonym : Smith-Magenis's syndrome; Smith-Magenis;

Wikipedia automatic translation : Smith–Magenis syndrome;

Related MeSH term : 17p11.2 monosomy;

Wikipedia link : https://en.wikipedia.org/wiki/Smith–Magenis syndrome;

Details

Origin ID

D058496;

UMLS CUI

C0795864;

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]
CISMeF manual mappings
- Smith-Magenis syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Smith-Magenis Syndrome [NCIt concept]
- Smith-Magenis syndrome [PASCAL descriptor]
- Smith-Magenis syndrome [DO Concept]
- Smith-Magenis syndrome [ICD-11 More detail]
- Smith-Magenis syndrome [MedDRA Preferred Term]
- Smith-Magenis syndrome (disorder) [SNOMED CT concept]
- Smith-magenis syndrome [OMIM Phenotype]
DO Cross reference
- Smith-Magenis syndrome [DO Concept]
Indexing information
- RAI1 protein, human [MeSH Supplementary Concept]
ORDO relation(s)
- Smith-Magenis syndrome [ORDO Disease]
Record concept(s)
- 17p11.2 monosomy [MeSH concept]
- Smith-Magenis syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Potocki-Lupski syndrome [MeSH Supplementary Concept]
- chromosome 17 deletion [MeSH Supplementary Concept]
See also
- chronobiology disorders [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Smith-Magenis Syndrome [NCIt concept]
- Smith-Magenis syndrome [ORDO Disease]
- Smith-Magenis syndrome [DO Concept]
- Smith-Magenis syndrome [PASCAL descriptor]
- Smith-Magenis syndrome [ICD-11 More detail]
- Smith-Magenis syndrome [MedDRA Preferred Term]
- Smith-Magenis syndrome (disorder) [SNOMED CT concept]
- Smith-magenis syndrome [OMIM Phenotype]
Validated automatic mappings to NTBT
- chromosome 17p deletion syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients