Code System Concept

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Code System Concept

Code System Concept Code	24308003
Code System Concept Name	Cystathionine beta-synthase deficiency (disorder)
Code System Preferred Concept Name	Cystathionine beta-synthase 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Superseded By Concept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
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
2474989014	Deficiency of serine sulphydrase	Active	Synonym	false	false
2475191011	Deficiency of serine sulfhydrase	Active	Synonym	false	false
2475928012	Deficiency of methylcysteine synthase	Active	Synonym	false	false
2475929016	Deficiency of beta-thionase	Active	Synonym	false	false
40795013	Cystathionine beta-synthase deficiency	Active	Synonym	false	false
40796014	CBS 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 sulfur-bearing amino acid metabolism (disorder) {28882002 , SNOMED-CT } Enzymopathy (disorder) {78548001 , SNOMED-CT } Homocystinuria (disorder) {11282001 , SNOMED-CT } Inborn error of metabolism (disorder) {86095007 , SNOMED-CT } Specific enzyme deficiency (disorder) {129456006 , 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,