Hereditary Sideroblastic Anemia

Preferred Label : Hereditary Sideroblastic Anemia;

NCIt definition : An inherited form of sideroblastic anemia.;

Alternative definition : NICHD: A form of anemia in which the bone marrow produces ringed sideroblasts (erythrocytes in which the iron granules are arranged in ring form within the mitochondria inside the nucleus) in place of mature erythrocytes, the cause if which is present from the time of birth.;

Details

Origin ID

C35262;

UMLS CUI

C0221018;

Currated CISMeF NLP mapping
- Hereditary sideroblastic anaemia [ICD-10 Sub-category (who)]
- Hereditary sideroblastic anaemia [MedDRA Preferred Term]
- Hereditary sideroblastic anaemias [ICD-11 Sub-sub category]
- Hereditary sideroblastic anemia [ICD-10 Sub-category]
- Hereditary sideroblastic anemia [MedDRA LLT]
- Hereditary sideroblastic anemia (disorder) [Inactive SNOMED CT concept]
- Hereditary syndromic sideroblastic anaemia [ICD-11 Sub-sub category]
- hereditary sideroblastic anemia, nos [SNOMED Notion]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, sideroblastic, 1 [OMIM Phenotype]
- Constitutional sideroblastic anemia [ORDO Disease]
- Hereditary sideroblastic anaemia [ICD-10 Sub-category (who)]
- Hereditary sideroblastic anaemia [MedDRA Preferred Term]
- Hereditary sideroblastic anaemias [ICD-11 Sub-sub category]
- Hereditary sideroblastic anemia [MedDRA LLT]
- Hereditary sideroblastic anemia [ICD-10 Sub-category]
- Hereditary sideroblastic anemia (disorder) [Inactive SNOMED CT concept]
- Hereditary syndromic sideroblastic anaemia [ICD-11 Sub-sub category]
- X-linked sideroblastic anemia [MeSH concept]
- X-linked sideroblastic anemia [ORDO Disease]
- hereditary sideroblastic anemia, nos [SNOMED Notion]
- x chromosome-linked sideroblastic anemia, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Congenital sideroblastic anaemias [ICD-11 Subcategory]
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]

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