1003938005: Phenylketonuria due to tetrahydrobiopterin deficiency (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4167012011 Phenylketonuria due to BH4 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4167014012 Phenylketonuria due to tetrahydrobiopterin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4167524012 Phenylketonuria due to tetrahydrobiopterin deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4167012011 Phenylketonuria due to BH4 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4167014012 Phenylketonuria due to tetrahydrobiopterin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4167524012 Phenylketonuria due to tetrahydrobiopterin deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6456901000241118 phénylcétonurie par déficit en tétrahydrobioptérine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6456901000241118 phénylcétonurie par déficit en tétrahydrobioptérine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
phénylcétonurie par déficit en tétrahydrobioptérine	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
phénylcétonurie par déficit en tétrahydrobioptérine	Is a	Hyperphenylalaninemia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
phénylcétonurie par déficit en tétrahydrobioptérine	Due to	Disorder of tetrahydrobiopterin metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
phénylcétonurie par déficit en tétrahydrobioptérine	Is a	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 hyperphenylalaninaemia (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.	false	Inferred relationship	Existential restriction modifier (core metadata concept)
phénylcétonurie par déficit en tétrahydrobioptérine	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)