Thalassemia - CISMeF

Preferred Label : Thalassemia;

NCIt definition : An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.;

Details

Origin ID

C35069;

UMLS CUI

C0039730;

Automatic exact mappings (from CISMeF team)
- Thalassaemia, unspecified [ICD-10 Sub-category (who)]
- alpha-Thalassemia [MeSH Descriptor]
- hereditary haemolytic anaemia [ICPC-2 Rubric]
- α δ-Thalassemia [PASCAL descriptor]
- α-Thalassemia [PASCAL descriptor]
- β δ-Thalassemia [PASCAL descriptor]
- β-Thalassemia [PASCAL descriptor]
DO Cross reference
- thalassemia [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)
- Thalassaemia [ICD-10 category (who)]
- Thalassaemia [MedDRA Preferred Term]
- Thalassaemia NOS [MedDRA LLT]
- Thalassaemic disorders [MedDRA High Level Term]
- Thalassemia [MedDRA LLT]
- Thalassemia [ICD-10 category]
- Thalassemia (disorder) [SNOMED CT concept]
- Thalassemia syndrome (disorder) [SNOMED CT concept]
- Thalassemia, unspecified [ICD-9 code]
- Thalassemia, unspecified [ICD-10 Sub-category]
- Thalassemias [ICD-9 code]
- thalassemia [DO Concept]
- thalassemia [Disease (Nov.)]
- thalassemia [MedlinePlus Topic]
- thalassemia [MeSH Descriptor]
- thalassemia [MeSH concept]
- thalassemia syndrome, nos [SNOMED Notion]
- thalassemia, nos [SNOMED Notion]
concept_is_in_subset
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Medical Conditions Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_associated_gene
- MIR144 Gene [NCIt concept]
- MIR144 wt Allele [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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