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68528007: Hyperphenylalaninemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
113815013 Hyperphenylalaninemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
501041011 Hyperphenylalaninaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
808373019 Hyperphenylalaninemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
113815013 Hyperphenylalaninemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
113815013 Hyperphenylalaninemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
501041011 Hyperphenylalaninaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
501041011 Hyperphenylalaninaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
808373019 Hyperphenylalaninemia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
808373019 Hyperphenylalaninemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4614311000241112 hyperphénylalaninémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4614311000241112 hyperphénylalaninémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

14 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hyperphenylalaninemia Is a Disorder of phenylalanine metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Hyperphenylalaninemia Is a Aminoacidaemia true Inferred relationship Existential restriction modifier (core metadata concept)
Hyperphenylalaninemia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Hyperphenylalaninemia Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Guanosine triphosphate cyclohydrolase I deficiency (disorder) Is a False Hyperphenylalaninemia Inferred relationship Existential restriction modifier (core metadata concept)
Transient hyperphenylalaninaemia Is a True Hyperphenylalaninemia Inferred relationship Existential restriction modifier (core metadata concept)
Sepiapterin reductase deficiency (disorder) Is a True Hyperphenylalaninemia Inferred relationship Existential restriction modifier (core metadata concept)
Dihydropteridine reductase deficiency Is a False Hyperphenylalaninemia Inferred relationship Existential restriction modifier (core metadata concept)
Tetrahydrobiopterin synthesis defect Is a True Hyperphenylalaninemia Inferred relationship Existential restriction modifier (core metadata concept)
Classical phenylketonuria Is a False Hyperphenylalaninemia Inferred relationship Existential restriction modifier (core metadata concept)
phénylcétonurie par déficit en tétrahydrobioptérine Is a False Hyperphenylalaninemia Inferred relationship Existential restriction modifier (core metadata concept)
Hyperphenylalaninemia due to DNAJC12 deficiency Is a True Hyperphenylalaninemia Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Hyperphenylalaninemia Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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