Fechtner syndrome

Preferred Label : Fechtner syndrome;

ICD-11 definition : Fechtner 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 Sebastian and Epstein syndromes) which are characterized by a macrothrombocytopenia that is usually severe but paradoxically results in few if any symptoms. Macrothrombocytopenia is defined by the presence of giant platelets, with a diameter equal or superior to the diameter of a red cell. Fechtner syndrome inconstantly associates renal involvement (interstitial glomerulonephritis), sensorineural deafness (especially in the high frequency range), and cataract (potentially bilateral).;

Details

Origin ID

1993570575;

UMLS CUI

C0403445;

Currated CISMeF NLP mapping
- Fechtner Syndrome [NCIt concept]
- Fechtner syndrome [PASCAL descriptor]
- Fechtner syndrome [OMIM Phenotype]
- Fechtner syndrome [ORDO Disease]
- Fechtner syndrome (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- MYH9-Related Disorders [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fechtner Syndrome [NCIt concept]
- Fechtner syndrome [OMIM Phenotype]
- Fechtner syndrome [ORDO Disease]
- Fechtner syndrome [PASCAL descriptor]
- Fechtner syndrome (disorder) [SNOMED CT concept]
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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