May-Hegglin Anomaly

Preferred Label : May-Hegglin Anomaly;

Alternative definition : NICHD: An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene.;

Details

Origin ID

C131646;

UMLS CUI

C0340978;

Currated CISMeF NLP mapping
- May Hegglin anomaly [PASCAL descriptor]
- May-Hegglin anomaly [MedDRA LLT]
- May-Hegglin anomaly [ICD-11 More detail]
- May-Hegglin anomaly (disorder) [SNOMED CT concept]
- May-Hegglin thrombocytopenia [ORDO Disease]
See also inter- (CISMeF)
- MYH9-Related Disorders [MeSH Supplementary Concept]
- May-Hegglin anomaly (finding) [Inactive SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [OMIM Phenotype]
- May Hegglin anomaly [PASCAL descriptor]
- May Hegglin syndrome (disorder) [Inactive SNOMED CT concept]
- May-Hegglin anomaly [MedDRA LLT]
- May-Hegglin anomaly [ICD-11 More detail]
- May-Hegglin anomaly (disorder) [SNOMED CT concept]
- May-Hegglin anomaly (finding) [Inactive SNOMED CT concept]
- May-Hegglin thrombocytopenia [ORDO Disease]
Validated automatic mappings to NTBT
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [OMIM Phenotype]
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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