Hemoglobin H Disease

Preferred Label : Hemoglobin H Disease;

Alternative definition : NICHD: A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia.;

Details

Origin ID

C95504;

UMLS CUI

C3161174;

Currated CISMeF NLP mapping
- Alpha thalassemia [ICD-10 Sub-category]
- Haemoglobin H disease [MedDRA LLT]
- Hemoglobin H disease [ORDO Disease]
- Hemoglobin H disease [MedDRA LLT]
- Hemoglobin H disease (disorder) [SNOMED CT concept]
- Hemoglobin h disease [OMIM Phenotype]
- alpha-Thalassemia [MeSH concept]
- alpha-Thalassemia [MeSH Descriptor]
- hemoglobin H disease [DO Concept]
- hemoglobin h disease [SNOMED Notion]
Disease may have findings
- Hemoglobin Alpha Three Copies Deleted Genotype [NCIt concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha thalassaemia intermedia [MedDRA LLT]
- Alpha thalassemia intermedia [MedDRA LLT]
- Haemoglobin H disease [MedDRA LLT]
- HbH hemoglobin [HPO term]
- Hemoglobin H disease [MedDRA LLT]
- Hemoglobin H disease (disorder) [SNOMED CT concept]
- Hemoglobin h disease [OMIM Phenotype]
Validated automatic mappings to NTBT
- alpha thalassemia [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology 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]
disease_mapped_to_gene
- HBA1 Gene [NCIt concept]
- HBA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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