Code System Concept

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Code System Concept

Code System Concept Code	13144005
Code System Concept Name	Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)
Code System Preferred Concept Name	Methylcrotonyl-coenzyme A carboxylase 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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
1220921018	3-Methylcrotonyl-CoA carboxylase deficiency	Active	Synonym	false	false
195517016	beta-Methylcrotonylglycinuria, type 1	Active	Synonym	false	false
22495011	Methylcrotonyl-CoA carboxylase deficiency	Active	Synonym	false	false
22496012	BMCC deficiency	Active	Synonym	false	false
22497015	MCC deficiency	Active	Synonym	false	false
2971885012	Methylcrotonyl-coenzyme A carboxylase deficiency	Active	Synonym	false	false

Associated Value Sets

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

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 } Non-amino organic acidemia AND/OR aciduria (disorder) {26513001 , 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,