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.

synonyms

• Hereditary methaemoglobinaemia
• Hereditary congenital methaemoglobinaemia
• Haemoglobin-M disease
• hereditary m haemoglobinopathy
• hereditary Methemoglobinemia
• chronic familial methaemoglobin reductase deficiency
• cytochrome b₅ reductase deficiency
• cytochrome b5 reductase deficiency
• Congenital NADH - [nicotinamide adenine dinucleotide] methaemoglobin reductase deficiency
• cytochrome-b reductase deficiency
• cytochrome b>5< reductase deficiency
• deficiency of NADH - [nicotinamide adenine dinucleotide] cytochrome b5 reductase
• deficiency of lipoamide reductase (NADH)
• enzymatic methaemoglobinaemia
• haemoglobin M disease
• DPNH - [diphosphopyridine nucleotide] methaemoglobin reductase deficiency
• congenital DPNH-methaemoglobin-reductase deficiency
• congenital infantile lactic acidosis due to lad deficiency
• Hb M - [haemoglobin-m disease]
• maple syrup urine disease with lactic acidosis
• NADH - [nicotinamide adenine dinucleotide] diaphorase or reductase deficiency
• maple syrup urine disease, type 3
• Recessive hereditary methaemoglobinaemia
• hereditary methaemoglobinemia due to globin chain mutation
• Hb M methaemoglobinaemia
• Recessive hereditary methaemoglobinaemia type 1
• NADH - [nicotinamide adenine dinucleotide] cytochrome b5 reductase deficiency type 1
• NADH - [nicotinamide adenine dinucleotide] diaphorase deficiency type 1
• Partial NADH - [nicotinamide adenine dinucleotide] cytochrome b5 reductase deficiency
• Partial NADH - [nicotinamide adenine dinucleotide] diaphorase deficiency
• Recessive congenital methaemoglobinaemia type 1
• Recessive hereditary methaemoglobinaemia type 2
• NADH - [nicotinamide adenine dinucleotide] cytochrome b5reductase deficiency type 2
• NADH - [nicotinamide adenine dinucleotide] diaphorase deficiency type 2
• Total NADH - [nicotinamide adenine dinucleotide] cytochrome b5 reductase deficiency
• Total NADH - [nicotinamide adenine dinucleotide] diaphorase deficiency
• Recessive congenital methaemoglobinaemia type 2
• Methaemoglobin reductase deficiency haemoglobinopathy
• NADPH - [Methaemoglobin reductase deficiency haemoglobinopathy]

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