Code System Concept

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Code System Concept

Code System Concept Code	1216941002
Code System Concept Name	Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder)
Code System Preferred Concept Name	Ketoacidosis due to monocarboxylate transporter-1 deficiency (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Superseded By Concept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	09/01/2022
SDO Date Created	04/30/2022
SDO Date Revised	04/30/2022
Description	A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5033750012	Ketoacidosis due to monocarboxylate transporter-1 deficiency	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal hereditary disorder (disorder) {1899006 , SNOMED-CT } Inborn error of metabolism (disorder) {86095007 , SNOMED-CT } Ketoacidosis (disorder) {56051008 , SNOMED-CT } Metabolic disorder of transport (disorder) {111394006 , 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,