Code System Concept

Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Code System Concept

Code System Concept Code	42930003
Code System Concept Name	Inborn error of amino acid metabolism (disorder)
Code System Preferred Concept Name	Inborn error of amino acid metabolism (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Superseded By Concept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
71637011	Inborn error of amino acid metabolism	Active	Synonym	false	false
71640011	Hyperaminoaciduria	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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Disorder of amino acid and organic acid metabolism (disorder) {237911005 , SNOMED-CT } Disorder of amino acid metabolism (disorder) {44779003 , SNOMED-CT } Inborn error of metabolism (disorder) {86095007 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Inborn error of amino acid metabolism (disorder) {42930003 , SNOMED-CT }

Parent/Child (Relationship Type)

2-methylbutyryl-coenzyme A dehydrogenase deficiency disease (disorder) {1306751004 , SNOMED-CT } Benign neonatal hyperaminoaciduria (disorder) {68985000 , SNOMED-CT } Carbamoyl-phosphate synthetase 1 deficiency (disorder) {765329008 , SNOMED-CT } Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder) {782757004 , SNOMED-CT } Cystathioninuria (disorder) {13003007 , SNOMED-CT } Glutaryl-coenzyme A dehydrogenase deficiency (disorder) {360416003 , SNOMED-CT } Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) {1306747001 , SNOMED-CT }

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