Methemoglobin Reductase Deficiency

Preferred Label : Methemoglobin Reductase Deficiency;

NCIt synonyms : NADH-Cytochrome B5 Reductase Deficiency; Cytochrome B5 Reductase Deficiency; NADH-Dependent Methemoglobin Reductase Deficiency; NADH-CYB5R Deficiency;

NCIt definition : Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin.;

NCI Metathesaurus CUI : CL435381;

Details

Origin ID

C101043;

UMLS CUI

C0472786;

Automatic exact mappings (from CISMeF team)
- Methemoglobin reductase deficiency [OMIM Phenotype]
- Methemoglobin reductase deficiency (disorder) [Inactive SNOMED CT concept]
- methemoglobin reductase deficiency [MeSH concept]
- methemoglobin reductase deficiency [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autosomal recessive congenital methemoglobinemia (disorder) [SNOMED CT concept]
- Methemoglobinemia due to deficiency of methemoglobin reductase [OMIM Phenotype]
- NADH cytochrome B5 reductase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methemoglobin reductase deficiency [OMIM Phenotype]
- Methemoglobin reductase deficiency (disorder) [Inactive SNOMED CT concept]
- methemoglobin reductase deficiency [MeSH Supplementary Concept]
- methemoglobin reductase deficiency [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_associated_disease
- Congenital Methemoglobinemia [NCIt concept]
disease_may_have_associated_disease
- Congenital Methemoglobinemia [NCIt concept]

Keyword's position in hierarchy(ies) :

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