Pelger-Huet Anomaly

Preferred Label : Pelger-Huet Anomaly;

NCIt definition : An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.;

Details

Origin ID

C85002;

UMLS CUI

C0030779;

Automatic exact mappings (from CISMeF team)
- Hyposegmentation of neutrophil nuclei [HPO term]
Currated CISMeF NLP mapping
- Pelger-Huet anomaly [PASCAL descriptor]
- Pelger-Huet anomaly [DO Concept]
- Pelger-Huet anomaly [ICD-11 More detail]
- Pelger-Huet anomaly [MeSH concept]
- Pelger-Huët anomaly (disorder) [SNOMED CT concept]
- Pelger-huet anomaly [OMIM Phenotype]
- pelger huet anomaly [Disease (Nov.)]
- pelger-huet anomaly [MeSH Descriptor]
- pelger-huet anomaly [SNOMED Notion]
DO Cross reference
- Pelger-Huet anomaly [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pelger-Huet anomaly [PASCAL descriptor]
- Pelger-Huet anomaly [DO Concept]
- Pelger-Huet anomaly [MeSH concept]
- Pelger-Huët anomaly (disorder) [SNOMED CT concept]
- Pelger-huet anomaly [OMIM Phenotype]
- pelger huet anomaly [Disease (Nov.)]
- pelger-huet anomaly [SNOMED Notion]
- pelger-huet anomaly [MeSH Descriptor]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- LBR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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