Hemoglobinopathy

Preferred Label : Hemoglobinopathy;

NCIt synonyms : Hemoglobinopathies / Iron Metabolism;

NCIt definition : An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.;

Alternative definition : ACC/AHA: Normal or abnormal findings related to the structural alterations of a globin chain within the hemoglobin molecule.;

Details

Origin ID

C3092;

UMLS CUI

C0019045;

Automatic exact mappings (from CISMeF team)
- Other haemoglobinopathies [MedDRA LLT]
Currated CISMeF NLP mapping
- Haemoglobinopathies [MedDRA High Level Group Term]
- Haemoglobinopathy [MedDRA Preferred Term]
- Haemoglobinopathy NOS [MedDRA LLT]
- Hemoglobin disorders [LOINC component]
- Hemoglobinopathy [PASCAL descriptor]
- Hemoglobinopathy [TUV Concept]
- Hemoglobinopathy [TUV Term]
- Hemoglobinopathy [ORDO Disease]
- Hemoglobinopathy [MedDRA LLT]
- Hemoglobinopathy (disorder) [SNOMED CT concept]
- hemoglobinopathies [MeSH Descriptor]
- hemoglobinopathies [MeSH concept]
- hemoglobinopathy [DO Concept]
- hemoglobinopathy [Disease (Nov.)]
- hemoglobinopathy [Blood Transfusion thesaurus concept]
- hemoglobinopathy, nos [SNOMED Notion]
DO Cross reference
- hemoglobinopathy [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)
- Haemoglobinopathies [MedDRA High Level Group Term]
- Haemoglobinopathies congenital [MedDRA High Level Term]
- Haemoglobinopathy [MedDRA Preferred Term]
- Haemoglobinopathy NOS [MedDRA LLT]
- Hemoglobin disorders [LOINC component]
- Hemoglobinopathy [ORDO Disease]
- Hemoglobinopathy [MedDRA LLT]
- Hemoglobinopathy [TUV Concept]
- Hemoglobinopathy [TUV Term]
- Hemoglobinopathy [PASCAL descriptor]
- Hemoglobinopathy (disorder) [SNOMED CT concept]
- hemoglobinopathies [MeSH Descriptor]
- hemoglobinopathies [MeSH concept]
- hemoglobinopathy [DO Concept]
- hemoglobinopathy [Disease (Nov.)]
- hemoglobinopathy, nos [SNOMED Notion]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Medical Conditions Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network 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]

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