Hereditary Elliptocytosis

Preferred Label : Hereditary Elliptocytosis;

NCIt related terms : Hereditary Ovalocytosis;

NCIt definition : An inherited blood disorder in which a large number of red blood cells have an elliptical morphology.;

Alternative definition : NICHD: An autosomal dominant inherited hemolytic anemia that is characterized by the presence of elongated erythrocytes. It is most commonly associated with mutations in the SPTA1 and SPTB genes, which encode alpha- and beta-spectrin respectively.;

Details

Origin ID

C35882;

UMLS CUI

C0013902;

Automatic exact mappings (from CISMeF team)
- Hereditary elliptocytosis [PASCAL descriptor]
- Southeast Asian ovalocytosis [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital elliptocytosis (disorder) [SNOMED CT concept]
- Elliptocytosis hereditary [MedDRA Preferred Term]
- Hereditary elliptocytosis [ICD-10 Sub-category]
- Hereditary elliptocytosis [ICD-9 code]
- Hereditary elliptocytosis [ICD-11 Subcategory]
- Hereditary elliptocytosis [ICD-10 Sub-category (who)]
- Hereditary elliptocytosis [ORDO Disease]
- Hereditary elliptocytosis [MedDRA LLT]
- Hereditary elliptocytosis (disorder) [SNOMED CT concept]
- elliptocytosis, hereditary [MeSH Descriptor]
- elliptocytosis, hereditary [MeSH concept]
- hereditary elliptocytosis [DO Concept]
- hereditary elliptocytosis, nos [SNOMED Notion]
DO Cross reference
- hereditary elliptocytosis [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)
- Congenital elliptocytosis (disorder) [SNOMED CT concept]
- Elliptocytosis hereditary [MedDRA Preferred Term]
- Hereditary elliptocytosis [ORDO Disease]
- Hereditary elliptocytosis [ICD-9 code]
- Hereditary elliptocytosis [ICD-10 Sub-category]
- Hereditary elliptocytosis [ICD-11 Subcategory]
- Hereditary elliptocytosis [ICD-10 Sub-category (who)]
- Hereditary elliptocytosis [MedDRA LLT]
- Hereditary elliptocytosis (disorder) [SNOMED CT concept]
- elliptocytosis, hereditary [MeSH concept]
- elliptocytosis, hereditary [MeSH Descriptor]
- hereditary elliptocytosis [DO Concept]
- hereditary elliptocytosis, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Elliptocytosis [HPO term]
- elliptocytosis [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Hereditary 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]

Keyword's position in hierarchy(ies) :

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