Code System Concept

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Code System Concept

Code System Concept Code	58256000
Code System Concept Name	Dihydropteridine reductase deficiency (disorder)
Code System Preferred Concept Name	Dihydropteridine reductase 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Superseded By Concept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
498119014	DHPR - Dihydropteridine reductase deficiency	Active	Synonym	false	false
498120015	Hyperphenylalaninaemia, type IV	Active	Synonym	false	false
96809014	Dihydropteridine reductase deficiency	Active	Synonym	false	false
96810016	Atypical phenylketonuria	Active	Synonym	false	false
96811017	DHPR deficiency	Active	Synonym	false	false
96812012	Hyperphenylalaninemia, type IV	Active	Synonym	false	false
96813019	Atypical PKU	Active	Synonym	false	false
96814013	Phenylketonuria II	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 tetrahydrobiopterin metabolism (disorder) {237913008 , SNOMED-CT } Enzymopathy (disorder) {78548001 , SNOMED-CT } Hyperphenylalaninemia (disorder) {68528007 , SNOMED-CT } Inborn error of metabolism (disorder) {86095007 , SNOMED-CT } Tetrahydrobiopterin synthesis defect (disorder) {68724006 , 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,