Erythrocyte Enolase Deficiency

Preferred Label : Erythrocyte Enolase Deficiency;

NCIt related terms : Alpha-Enolase Deficiency; Phosphopyruvate Hydratase Deficiency;

Alternative definition : NICHD: A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness.;

Details

Origin ID

C131641;

UMLS CUI

C1291579;

Currated CISMeF NLP mapping
- Deficiency of enolase (disorder) [SNOMED CT concept]
- Haemolytic anaemia due to red cell enolase deficiency [ICD-11 More detail]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
See also inter- (CISMeF)
- Hemolytic anemia due to red cell enolase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of enolase (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [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
- ENO1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients