Code System Concept

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Code System Concept

Code System Concept Code	42393006
Code System Concept Name	Methylmalonic acidemia (disorder)
Code System Preferred Concept Name	Methylmalonic acidemia (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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
1229858012	MMA - Methylmalonic aciduria	Active	Synonym	false	false
493300012	Methylmalonic acidaemia	Active	Synonym	false	false
70730010	Methylmalonic acidemia	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Birth Defect Diagnosis	1
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Acidemia (disorder) {70731005 , SNOMED-CT } Disorder of branched-chain amino acid metabolism (disorder) {116020001 , SNOMED-CT } Disorder of propionate AND/OR methylmalonate metabolism (disorder) {84618009 , SNOMED-CT } Non-amino organic acidemia AND/OR aciduria (disorder) {26513001 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Methylmalonic acidemia (disorder) {42393006 , SNOMED-CT }

Parent/Child (Relationship Type)

Adenosylcobalamin and methylcobalamin synthesis defect (disorder) {4409006 , SNOMED-CT } Adenosylcobalamin synthesis defect (disorder) {69614003 , SNOMED-CT } Combined malonic and methylmalonic aciduria (disorder) {702365002 , SNOMED-CT } Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) {715338007 , SNOMED-CT } Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) {765137006 , SNOMED-CT } Methylmalonic aciduria due to transcobalamin receptor defect (disorder) {771444002 , SNOMED-CT } Methylmalonyl-CoA mutase deficiency (disorder) {28292003 , SNOMED-CT } Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) {1197052008 , SNOMED-CT }

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