Code System Concept

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Code System Concept

Code System Concept Code	702365002
Code System Concept Name	Combined malonic and methylmalonic aciduria (disorder)
Code System Preferred Concept Name	Combined malonic and methylmalonic aciduria (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Superseded By Concept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	07/31/2014
SDO Date Created	07/31/2014
SDO Date Revised	07/31/2014
Description	A rare inborn error of metabolism with characteristics of elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. The disease presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
2995217019	CMAMMA - combined malonic and methylmalonic aciduria	Active	Synonym	false	false
2995400012	Combined malonic and methylmalonic aciduria	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal hereditary disorder (disorder) {1899006 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Disorder of fatty acid metabolism (disorder) {39929009 , SNOMED-CT } Malonic aciduria (disorder) {361203007 , SNOMED-CT } Methylmalonic acidemia (disorder) {42393006 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

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