ICD-11 code : 3A92;
Preferred Label : Hereditary methaemoglobinaemia;
ICD-11 definition : Hereditary methemoglobinaemia (HM) is a rare red cell disorder classified principally
into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinaemia
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.;
ICD-11 synonym : Hereditary congenital methaemoglobinaemia; Hb M methaemoglobinemia; hereditary Methemoglobinemia; Haemoglobin-M disease; hereditary m haemoglobinopathy;
ICD-11 inclusion : deficiency of lipoamide reductase (nadh); cytochrome b5 reductase deficiency; enzymatic methaemoglobinemia; congenital infantile lactic acidosis due to lad deficiency; haemoglobin M disease; maple syrup urine disease, type 3; DPNH - [diphosphopyridine nucleotide] methaemoglobin reductase deficiency; deficiency of NADH - [nicotinamide adenine dinucleotide] cytochrome b5 reductase; Congenital NADH - [nicotinamide adenine dinucleotide] methaemoglobin reductase deficiency; Recessive hereditary methaemoglobinaemia; maple syrup urine disease with lactic acidosis; Hb M - [haemoglobin-m disease]; chronic familial methaemoglobin reductase deficiency; cytochrome-b reductase deficiency; congenital dpnh-methaemoglobin-reductase deficiency; NADH - [nicotinamide adenine dinucleotide] diaphorase or reductase deficiency; hereditary methaemoglobinemia due to globin chain mutation; cytochrome b sub 5 /sub reductase deficiency; cytochrome b 5 reductase deficiency;
Origin ID : 586921197;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- ICD-10 Mapping
Hereditary methemoglobinaemia (HM) is a rare red cell disorder classified principally
into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinaemia
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.
