Spherocytosis - CISMeF

Preferred Label : Spherocytosis;

NCIt definition : A hereditary or acquired blood disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly.;

Details

Origin ID

C85074;

UMLS CUI

C0553720;

Automatic exact mappings (from CISMeF team)
- hereditary haemolytic anaemia [ICPC-2 Rubric]
- spectrin beta, erythrocytic [HGNC gene]
- spherocyte [SNOMED Notion]
- spherocytosis, hereditary [MeSH Descriptor]
Currated CISMeF NLP mapping
- Spherocytosis [HPO term]
- Spherocytosis [MedDRA LLT]
- Spherocytosis (finding) [SNOMED CT concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Spherocytosis [HPO term]
- Spherocytosis [MedDRA LLT]
- Spherocytosis (finding) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network 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]

Keyword's position in hierarchy(ies) :

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