Congenital Methemoglobinemia

Preferred Label : Congenital Methemoglobinemia;

Alternative definition : NICHD: Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.;

Details

Origin ID

C98898;

UMLS CUI

C0272087;

Currated CISMeF NLP mapping
- Congenital methaemoglobinaemia [MedDRA Preferred Term]
- Congenital methaemoglobinaemia [ICD-10 Sub-category (who)]
- Congenital methaemoglobinaemia [ICD-11 Category]
- Congenital methemoglobinemia [MedDRA LLT]
- Congenital methemoglobinemia [ICD-10 Sub-category]
- Congenital methemoglobinemia (disorder) [SNOMED CT concept]
- Hereditary methemoglobinemia [ORDO Disease]
- Hereditary methemoglobinemia due to globin chain mutation (disorder) [SNOMED CT concept]
- congenital methemoglobinemia [MeSH concept]
- congenital methemoglobinemia [MeSH Supplementary Concept]
- hemoglobin m disease [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)
- Congenital methaemoglobinaemia [MedDRA Preferred Term]
- Congenital methaemoglobinaemia [ICD-10 Sub-category (who)]
- Congenital methemoglobinemia [MedDRA LLT]
- Congenital methemoglobinemia [ICD-10 Sub-category]
- Congenital methemoglobinemia (disorder) [SNOMED CT concept]
- Hereditary methemoglobinemia [ORDO Disease]
- congenital methemoglobinemia [MeSH concept]
- congenital methemoglobinemia [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_associated_disease
- Methemoglobin Reductase Deficiency [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]
may_be_associated_disease_of_disease
- Methemoglobin Reductase Deficiency [NCIt concept]

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