Sebastian syndrome

Preferred Label : Sebastian syndrome;

ICD-11 definition : Sebastian syndrome is one of the MYH9 syndromes (a group that includes four clinical forms with similar manifestations resulting from mutations in the MYH9 gene: May-Hegglin anomaly and Fechtner and Epstein syndromes), which are characterized by a macrothrombocytopenia that is usually severe but paradoxically results in few if any symptoms.;

Details

Origin ID

1578628103;

UMLS CUI

C1854520;

Currated CISMeF NLP mapping
- Sebastian Syndrome [NCIt concept]
- Sebastian syndrome [OMIM Phenotype]
- Sebastian syndrome [ORDO Disease]
See also inter- (CISMeF)
- MYH9-Related Disorders [MeSH Supplementary 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 [NCIt concept]
- Sebastian syndrome [OMIM Phenotype]
- Sebastian syndrome [ORDO Disease]
Validated automatic mappings to NTBT
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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