Code System Concept

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Code System Concept

Code System Concept Code	27718001
Code System Concept Name	Maple syrup urine disease (disorder)
Code System Preferred Concept Name	Maple syrup urine disease (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Superseded By Concept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
1225519017	Branched chain ketoacid dehydrogenase deficiency	Active	Synonym	false	false
1225520011	BCKD - Branched chain alpha-ketoacid dehydrogenase deficiency	Active	Synonym	false	false
1225521010	MSUD - Maple syrup urine disease	Active	Synonym	false	false
1225522015	Oxo-acid decarboxylase deficiency	Active	Synonym	false	false
196615010	Ketoacidemia	Active	Synonym	false	false
196616011	Branched chain ketoaciduria	Active	Synonym	false	false
46396017	Maple syrup urine disease	Active	Synonym	false	false
46398016	Branched-chain alpha-keto acid dehydrogenase deficiency	Active	Synonym	false	false
46399012	BCKD deficiency	Active	Synonym	false	false
46400017	MSUD	Active	Synonym	false	false
46401018	Ketoacid decarboxylase deficiency	Active	Synonym	false	false
483637010	Ketoacidaemia	Active	Synonym	false	false
5244056018	BCKD - branched-chain 2-ketoacid dehydrogenase deficiency	Active	Synonym	false	false
5244057010	MSUD - maple syrup urine disease	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)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Disorder of branched-chain amino acid metabolism (disorder) {116020001 , SNOMED-CT } Enzymopathy (disorder) {78548001 , SNOMED-CT } Inborn error of metabolism (disorder) {86095007 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Maple syrup urine disease (disorder) {27718001 , SNOMED-CT }

Parent/Child (Relationship Type)

Classical maple syrup urine disease (disorder) {54064006 , SNOMED-CT } Dihydrolipoamide dehydrogenase deficiency (disorder) {29914000 , SNOMED-CT } Intermediate maple syrup urine disease (disorder) {405287008 , SNOMED-CT } Intermittent maple syrup urine disease (disorder) {22710004 , SNOMED-CT } Intermittent maple syrup urine disease (disorder) {405288003 , SNOMED-CT } Maple syrup urine disease, multiple dehydrogenase form (disorder) {71702000 , SNOMED-CT } Mild maple syrup urine disease (disorder) {23156007 , SNOMED-CT } Thiamin-responsive maple syrup urine disease (disorder) {31368008 , SNOMED-CT }

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