3A92 Hereditary methaemoglobinaemia

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01


Hereditary methemoglobinemia (HM) is a rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, well-tolerated cyanosis from birth is the only symptom. RCM type 2, with global loss of Cb5R function, is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life.

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