Code System Concept

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Code System Concept

Code System Concept Code	767497003
Code System Concept Name	Autosomal recessive congenital methemoglobinemia (disorder)
Code System Preferred Concept Name	Autosomal recessive congenital methemoglobinemia (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, cyanosis from birth is the only symptom. RCM type 2 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. RCM type 1 is caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. RCM type 2 is caused by global loss of Cb5R function. RCM type 1 is generally associated with missense mutations, whereas RCM type 2 is more commonly associated with truncating mutations, splicing errors or mutations that lead to disruption of the active site.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3671994016	Congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency	Active	Synonym	false	false
3671995015	Congenital NADH-methaemoglobin reductase deficiency	Active	Synonym	false	false
3672000015	Congenital NADH-methemoglobin reductase deficiency	Active	Synonym	false	false
3672001016	Cytochrome b5 reductase deficiency	Active	Synonym	false	false
3672016018	Congenital methaemoglobinaemia due to NADH-cytochrome b5 reductase 3 deficiency	Active	Synonym	false	false
3672017010	NADH-methaemoglobin reductase deficiency	Active	Synonym	false	false
3672018017	NADH-methemoglobin reductase deficiency	Active	Synonym	false	false
3672019013	Chronic familial methemoglobin reductase deficiency	Active	Synonym	false	false
3672020019	Chronic familial methaemoglobin reductase deficiency	Active	Synonym	false	false
3672025012	Autosomal recessive congenital methemoglobinemia	Active	Synonym	false	false
3672026013	Autosomal recessive congenital methaemoglobinaemia	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital methemoglobinemia (disorder) {267550008 , SNOMED-CT } Hereditary red blood cell disorder (disorder) {414394009 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts Autosomal recessive congenital methemoglobinemia (disorder) {767497003 , SNOMED-CT } Parent/Child (Relationship Type) Autosomal recessive congenital methemoglobinemia type I (disorder) {767499000 , SNOMED-CT } Autosomal recessive congenital methemoglobinemia type II (disorder) {767498008 , SNOMED-CT }

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,