ICD-11 classes
03 Diseases of the blood or blood-forming organs
Anaemias or other erythrocyte disorders
3A91 — Congenital methaemoglobinaemia

ICD-11 3A91 — Congenital methaemoglobinaemia

A disease caused by determinants in the antenatal period leading to lack of the enzyme cytochrome b5 reductase. This disease is characterised by elevated levels of methemoglobin within the blood leading to haemoglobin ineffectively releasing oxygen to body tissues. This disease may present with shortness of breath, cyanosis, headache, fatigue, exercise intolerance, dizziness and loss of consciousness. Confirmation is by identification of mutation by genetic testing.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.