MYH9-Related Disorders

Preferred Label : MYH9-Related Disorders;

MeSH synonym : alport syndrome with macrothrombocytopenia; macrothrombocytopathy, nephritis, and deafness; Autosomal Dominant Myh9 Spectrum Disorders; Dohle leukocyte inclusions with giant platelets; Epstein syndrome; Fechtner syndrome; Fechtner's syndrome; Sebastian syndrome; Macrothrombocytopenia with leukocyte inclusions; May-Hegglin anomaly; MYH9 Gene-Related Autosomal Macrothrombocytopenias; MYH9-Related Disease; Myh9-Related Disorder; Myh9-Related Macrothrombocytopenias; MYH9RD; Sebastian platelet syndrome; Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia; Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions;

MeSH hyponym : DFNA17;

Details

Origin ID

C535507;

UMLS CUI

C5200934;

Automatic exact mappings (from CISMeF team)
- Fechtner syndrome [PASCAL descriptor]
- MYH9-related disease [MedDRA Preferred Term]
- May-Hegglin anomaly [MedDRA LLT]
- May-Hegglin anomaly (disorder) [SNOMED CT concept]
- autosomal dominant nonsyndromic deafness 17 [DO Concept]
Currated CISMeF NLP mapping
- MYH9 macrothrombocytopenia syndrome (disorder) [SNOMED CT concept]
- MYH9 macrothrombocytopenia syndromes [ICD-11 More detail]
- MYH9-related disease [ORDO Disease]
- Myosin heavy chain 9 non muscle related disease (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Bilateral sensorineural deafness [HPO term]
- Bilateral sensorineural deafness, high frequency [HPO term]
- Leukocyte inclusion bodies (Dohle-like bodies) [HPO term]
- severe thrombocytopenia [HPO term]
MeSH term(s) associated for indexing
- hearing loss, sensorineural [MeSH Descriptor]
- nephritis, hereditary [MeSH Descriptor]
- thrombocytopenia [MeSH Descriptor]
- thrombocytopenia [MeSH Descriptor]
ORDO relation(s)
- Epstein syndrome [ORDO Disease]
Record concept(s)
- MYH9-Related disorders [MeSH concept]
- deafness, autosomal dominant 17 [MeSH concept]
See also inter- (CISMeF)
- Epstein Syndrome [NCIt concept]
- Epstein syndrome [ICD-11 More detail]
- Epstein syndrome [Disease (Nov.)]
- Epstein syndrome [OMIM Phenotype]
- Epstein syndrome [ORDO Disease]
- Epstein syndrome (disorder) [SNOMED CT concept]
- Fechtner Syndrome [NCIt concept]
- Fechtner syndrome [ORDO Disease]
- Fechtner syndrome [OMIM Phenotype]
- Fechtner syndrome [ICD-11 More detail]
- Fechtner syndrome (disorder) [SNOMED CT concept]
- MYH9 wt Allele [NCIt concept]
- May-Hegglin Anomaly [NCIt concept]
- May-Hegglin Anomaly Measurement [NCIt concept]
- May-Hegglin anomaly [ICD-11 More detail]
- Sebastian Syndrome [NCIt concept]
- Sebastian syndrome [ORDO Disease]
- Sebastian syndrome [OMIM Phenotype]
- Sebastian syndrome [ICD-11 More detail]
- myosin heavy chain 9 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MYH9-related disease [ORDO Disease]
- MYH9-related disease [MedDRA Preferred Term]
- Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss [NCIt concept]
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [OMIM Phenotype]
- Myosin heavy chain 9 non muscle related disease (disorder) [SNOMED CT concept]
- Sebastian Syndrome [NCIt concept]
- Sebastian syndrome [OMIM Phenotype]
- Sebastian syndrome [ORDO Disease]
- Sebastian syndrome [ICD-11 More detail]
Validated automatic mappings to BTNT
- Deafness, autosomal dominant 17 [OMIM Phenotype]
- Epstein syndrome [Disease (Nov.)]
- Epstein syndrome [ICD-11 More detail]
Validated automatic mappings to NTBT
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [OMIM Phenotype]

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