Code System Concept

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Code System Concept

Code System Concept Code	190687004
Code System Concept Name	Phenylketonuria (disorder)
Code System Preferred Concept Name	Phenylketonuria (disorder)
Concept Status	Retired
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Superseded By Concept	Concept Code: 7573000 Concept Name: Classical phenylketonuria (disorder) Code System: SNOMED-CT
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	06/30/2022
Description	A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
293081015	Phenylketonuria	Active	Synonym	false	false
5067029016	PKU - phenylketonuria	Active	Synonym	false	false
5067030014	PAH (phenylalanine hydroxylase) deficiency	Active	Synonym	false	false
5067031013	Phenylalanine hydroxylase deficiency	Active	Synonym	false	false
5067032018	Folling disease	Active	Synonym	false	false
5067033011	Oligophrenia phenylpyruvica	Active	Synonym	false	false
5353661016	PAH-gene related phenylketonuria	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Enzymopathy (disorder) {78548001 , SNOMED-CT } Hyperphenylalaninemia (disorder) {68528007 , SNOMED-CT } Inborn error of metabolism (disorder) {86095007 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts Phenylketonuria (disorder) {190687004 , SNOMED-CT } Parent/Child (Relationship Type) Classical phenylketonuria (disorder) {7573000 , SNOMED-CT } Phenylketonuria due to tetrahydrobiopterin deficiency (disorder) {1003938005 , SNOMED-CT }

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