Preferred Label : Methaemoglobin reductase deficiency haemoglobinopathy;
ICD-11 definition : A disease caused by a genetically inherited mutation leading to lack of the enzyme
methemoglobin reductase. This disease is characterised by elevated levels of methemoglobin
within the blood. This disease may present with cyanosis in homozygous cases. Heterozygous
cases present with no clinical abnormalities. Confirmation is by verification of genetic
mutation by genetic testing.;
ICD-11 synonym : NADPH - [Methaemoglobin reductase deficiency haemoglobinopathy];
ICD-11 acronym : NADPH;
Origin ID : 403052171;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
A disease caused by a genetically inherited mutation leading to lack of the enzyme
methemoglobin reductase. This disease is characterised by elevated levels of methemoglobin
within the blood. This disease may present with cyanosis in homozygous cases. Heterozygous
cases present with no clinical abnormalities. Confirmation is by verification of genetic
mutation by genetic testing.
