Sebastian Syndrome

Preferred Label : Sebastian Syndrome;

NCIt related terms : Sebastian Platelet Syndrome;

Alternative definition : NICHD: An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, without other organ dysfunction; it is associated with mutation of the MYH9 gene.;

Details

Origin ID

C131650;

UMLS CUI

C1854520;

Automatic exact mappings (from CISMeF team)
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [OMIM Phenotype]
Currated CISMeF NLP mapping
- Sebastian syndrome [ORDO Disease]
- Sebastian syndrome [OMIM Phenotype]
- Sebastian syndrome [ICD-11 More detail]
See also inter- (CISMeF)
- MYH9-Related Disorders [MeSH Supplementary Concept]
- MYH9-Related disorders [MeSH concept]
- MYH9-related disease [ORDO Disease]
- Myosin heavy chain 9 non muscle related disease (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MYH9-Related Disorders [MeSH Supplementary Concept]
- MYH9-Related disorders [MeSH concept]
- MYH9-related disease [ORDO Disease]
- MYH9-related disease [MedDRA Preferred Term]
- Myosin heavy chain 9 non muscle related disease (disorder) [SNOMED CT concept]
- Sebastian syndrome [ORDO Disease]
- Sebastian syndrome [OMIM Phenotype]
- Sebastian syndrome [ICD-11 More detail]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MYH9 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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