Code System Concept

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Code System Concept

Code System Concept Code	715338007
Code System Concept Name	Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
Code System Preferred Concept Name	Fatal infantile lactic acidosis co-occurrent with 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Superseded By Concept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	07/31/2016
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2016
Description	Congenital lactic acidosis is defined by the presence of a metabolic acidosis due to the accumulation of lactic acid in blood. Congenital defects of any one of the multiple enzymatic steps of pyruvate utilisation induce accumulation of pyruvate and lactate, but usually to levels that do not provoke metabolic acidosis. Lactic acidosis is therefore an extreme situation, due either to very severe defects or to acute metabolic crisis associated with less severe defects. It occurs mostly in neonates or very young infants, with polypnoea, severe hypotonia, lethargy, and vomiting, after a silent period during which the children were considered as normal. Facial dysmorphism and cerebral malformations may be noted, as well as diverse organ involvement such as hypertrophic myocardiopathy, tubulopathy, or liver insufficiency.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3302270013	Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria	Active	Synonym	false	false
3302271012	Fatal infantile lactic acidosis with 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 recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Depletion of mitochondrial deoxyribonucleic acid (disorder) {237995002 , SNOMED-CT } Methylmalonic acidemia (disorder) {42393006 , SNOMED-CT } Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) {765401006 , 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,