Hereditary Spherocytosis

Preferred Label : Hereditary Spherocytosis;

NCIt definition : An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly.;

Alternative definition : NICHD: An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes, resulting in hemolytic anemia and splenomegaly. Mutations in ANK1 account for over half of the cases.;

Details

Origin ID

C97074;

UMLS CUI

C0037889;

Currated CISMeF NLP mapping
- ANAEMIA SPHEROCYTIC [WHO-ART Preferred Term]
- Anaemia spherocytic [MedDRA LLT]
- Anemia spherocytic [MedDRA LLT]
- Hereditary spherocytosis [ICD-10 Sub-category (who)]
- Hereditary spherocytosis [MedDRA Preferred Term]
- Hereditary spherocytosis [ICD-10 Sub-category]
- Hereditary spherocytosis [ORDO Disease]
- Hereditary spherocytosis [ICD-9 code]
- Hereditary spherocytosis [ICD-11 More detail]
- Hereditary spherocytosis (disorder) [SNOMED CT concept]
- Minkowski-Chauffard syndrome [MedDRA LLT]
- Spherocytic anaemia [MedDRA Preferred Term]
- Spherocytic anemia [MedDRA LLT]
- hereditary spherocytosis [Disease (Nov.)]
- hereditary spherocytosis [DO Concept]
- hereditary spherocytosis, nos [SNOMED Notion]
- spherocytosis, hereditary [MeSH Descriptor]
- spherocytosis, hereditary [MeSH concept]
DO Cross reference
- hereditary spherocytosis [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)
- ANAEMIA SPHEROCYTIC [WHO-ART Preferred Term]
- Anaemia spherocytic [MedDRA LLT]
- Anemia spherocytic [MedDRA LLT]
- Hereditary spherocytosis [MedDRA Preferred Term]
- Hereditary spherocytosis [ICD-10 Sub-category (who)]
- Hereditary spherocytosis [ICD-9 code]
- Hereditary spherocytosis [ORDO Disease]
- Hereditary spherocytosis [ICD-10 Sub-category]
- Hereditary spherocytosis [ICD-11 More detail]
- Hereditary spherocytosis (disorder) [SNOMED CT concept]
- Minkowski-Chauffard syndrome [MedDRA LLT]
- Spherocytic anaemia [MedDRA Preferred Term]
- Spherocytic anemia [MedDRA LLT]
- hereditary spherocytosis [DO Concept]
- hereditary spherocytosis [Disease (Nov.)]
- hereditary spherocytosis, nos [SNOMED Notion]
- spherocytosis, hereditary [MeSH Descriptor]
- spherocytosis, hereditary [MeSH concept]
Validated automatic mappings to BTNT
- spherocytosis, type 1 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- 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]

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