3A92ICD-11 MMS 2026-01
Hereditary methaemoglobinaemia
Description
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.
Index terms
- Hereditary methaemoglobinaemia
- Congenital NADH - [nicotinamide adenine dinucleotide] methaemoglobin reductase deficiency
- DPNH - [diphosphopyridine nucleotide] methaemoglobin reductase deficiency
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- Haemoglobin-M disease
- Hb M - [haemoglobin-m disease]
- Hb M methaemoglobinaemia
- Hereditary congenital methaemoglobinaemia
- NADH - [nicotinamide adenine dinucleotide] diaphorase or reductase deficiency
- Recessive hereditary methaemoglobinaemia
- chronic familial methaemoglobin reductase deficiency
- congenital DPNH-methaemoglobin-reductase deficiency
- congenital infantile lactic acidosis due to lad deficiency
- cytochrome b5 reductase deficiency
- cytochrome b<sub>5</sub> reductase deficiency
- cytochrome b>5< reductase deficiency
- cytochrome-b reductase deficiency
- deficiency of NADH - [nicotinamide adenine dinucleotide] cytochrome b5 reductase
- deficiency of lipoamide reductase (NADH)
- enzymatic methaemoglobinaemia
- haemoglobin M disease
- hereditary Methemoglobinemia
- hereditary m haemoglobinopathy
- hereditary methaemoglobinemia due to globin chain mutation
- maple syrup urine disease with lactic acidosis
- maple syrup urine disease, type 3
- 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
- Recessive congenital methaemoglobinaemia type 2
- Total NADH - [nicotinamide adenine dinucleotide] cytochrome b5 reductase deficiency
- Total NADH - [nicotinamide adenine dinucleotide] diaphorase deficiency
- Methaemoglobin reductase deficiency haemoglobinopathy
- NADPH - [Methaemoglobin reductase deficiency haemoglobinopathy]
Exclusions from above levels
04– Diseases of the immune system05– Endocrine, nutritional or metabolic diseases18– Complications of pregnancy, childbirth or the puerperium
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19– Certain conditions originating in the perinatal period20– Congenital malformations, deformations or chromosomal abnormalities22– Injury, poisoning or certain other consequences of external causes- http://id.who.int/icd/entity/1000704511 – Human immunodeficiency virus disease
JB64.1– Other diseases of the blood or blood-forming organs or certain disorders involving the immune mechanism complicating pregnancy, childbirth or the puerperium
Sibling codes
3A50– Thalassaemias3A51– Sickle cell disorders or other haemoglobinopathies3A70– Aplastic anaemia3A71– Anaemia due to chronic disease3A72– Sideroblastic anaemia3A73– Congenital dyserythropoietic anaemia3A90– Anaemia due to acute disease3A91– Congenital methaemoglobinaemia3A93– Acquired methaemoglobinaemia3A94– Acute posthaemorrhagic anaemia3A9Y– Other specified anaemias or erythrocyte disorders3A9Z– Anaemias or other erythrocyte disorders, unspecified
Foundation entity
Hereditary methaemoglobinaemia – http://id.who.int/icd/entity/586921197
Part of: 03: Diseases of the blood or blood-forming organs