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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


15 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hyperphenylalaninemia est un(e) (attribut) Disorder of phenylalanine metabolism true Inferred relationship Some
Hyperphenylalaninemia est un(e) (attribut) Aminoacidaemia true Inferred relationship Some
Hyperphenylalaninemia survenue (attribut) congénital false Inferred relationship Some
Hyperphenylalaninemia localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Phenylketonuria due to tetrahydrobiopterin deficiency est un(e) (attribut) False Hyperphenylalaninemia Inferred relationship Some
Hyperphenylalanineaemia due to DNAJC12 deficiency est un(e) (attribut) True Hyperphenylalaninemia Inferred relationship Some
Phenylketonuria (disorder) est un(e) (attribut) True Hyperphenylalaninemia Inferred relationship Some
Guanosine triphosphate cyclohydrolase I deficiency (disorder) est un(e) (attribut) False Hyperphenylalaninemia Inferred relationship Some
Transient hyperphenylalaninemia est un(e) (attribut) True Hyperphenylalaninemia Inferred relationship Some
Sepiapterin reductase deficiency est un(e) (attribut) True Hyperphenylalaninemia Inferred relationship Some
déficit en dihydroptéridine réductase (trouble) est un(e) (attribut) False Hyperphenylalaninemia Inferred relationship Some
Tetrahydrobiopterin synthesis defect (disorder) est un(e) (attribut) True Hyperphenylalaninemia Inferred relationship Some
Classical phenylketonuria est un(e) (attribut) False Hyperphenylalaninemia Inferred relationship Some

This concept is not in any reference sets

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