Hemoglobin D Disease

Preferred Label : Hemoglobin D Disease;

NCIt synonyms : Sickle Cell-Hemoglobin D Disease;

NCIt definition : A condition characterized by the presence of a variant of normal hemoglobin (hemoglobin D), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule.;

Alternative definition : NICHD: An autosomal recessive disorder resulting from the production of hemoglobin D, secondary to various substitution mutations in the beta chain, and characterized by mild hemolytic anemia and possible splenomegaly. Multiple subtypes of hemoglobin D have been identified.;

Details

Origin ID

C35344;

UMLS CUI

C0272080;

Automatic exact mappings (from CISMeF team)
- Sickle cell-hemoglobin D disease (disorder) [SNOMED CT concept]
- Sickle cell-hemoglobin D disease syndrome [ORDO Disease]
- hemoglobin D disease [DO Concept]
- sickle cell-hemoglobin d disease [SNOMED Notion]
Currated CISMeF NLP mapping
- Haemoglobin D disease [ICD-11 Subcategory]
- Haemoglobin D disease [MedDRA Preferred Term]
- Hemoglobin D disease [ORDO Disease]
- Hemoglobin D disease [MedDRA LLT]
- Hemoglobin D disease (disorder) [SNOMED CT concept]
- hemoglobin d disease [SNOMED Notion]
DO Cross reference
- hemoglobin D disease [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)
- Haemoglobin D disease [MedDRA Preferred Term]
- Haemoglobin D disease [ICD-11 Subcategory]
- Hemoglobin D disease [ORDO Disease]
- Hemoglobin D disease [MedDRA LLT]
- Hemoglobin D disease (disorder) [SNOMED CT concept]
- hemoglobin D disease [DO Concept]
- hemoglobin d disease [SNOMED Notion]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_molecular_abnormality
- HBB NP_000509.1:p.E122Q [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]
disease_mapped_to_gene
- HBB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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