Smith-Magenis Syndrome

Preferred Label : Smith-Magenis Syndrome;

NCIt synonyms : Smith Magenis Syndrome; Chromosome 17p11.2 Deletion Syndrome;

NCIt definition : A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental retardation, distinctive facial features (flat head, square face, and deep set-eyes), sleep disturbances, attention deficit disorders, and temper tantrums.;

Details

Origin ID

C75469;

UMLS CUI

C0795864;

Currated CISMeF NLP mapping
- 17p11.2 monosomy [MeSH 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 [MeSH Descriptor]
- Smith-Magenis syndrome [MeSH concept]
- Smith-Magenis syndrome [ORDO Disease]
- 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 [ORDO Disease]
- Smith-Magenis syndrome [MeSH concept]
- Smith-Magenis syndrome [MeSH Descriptor]
- 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]
Validated automatic mappings to NTBT
- chromosome 17p deletion syndrome [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 17 [NCIt concept]

Keyword's position in hierarchy(ies) :

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