40751003: Persistent hyperphenylalaninemia AND tyrosinemia (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Phenylketonuria (disorder)\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninaemia AND tyrosinaemia

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria (disorder)\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninaemia AND tyrosinaemia

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninemia\Phenylketonuria (disorder)\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninaemia AND tyrosinaemia
\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninemia\Phenylketonuria (disorder)\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninaemia AND tyrosinaemia
\trouble métabolique\Inborn error of metabolism\Phenylketonuria (disorder)\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninaemia AND tyrosinaemia
\trouble métabolique\Enzymopathy\Phenylketonuria (disorder)\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninaemia AND tyrosinaemia
\trouble métabolique\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperphenylalaninemia\Phenylketonuria (disorder)\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninaemia AND tyrosinaemia

\Congenital disease\Inborn error of metabolism\Phenylketonuria (disorder)\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninaemia AND tyrosinaemia

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

492764013 Hyperphenylalaninaemia, type VI en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

492765014 Persistent hyperphenylalaninaemia AND tyrosinaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

67972016 Persistent hyperphenylalaninemia AND tyrosinemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

67974015 Hyperphenylalaninemia, type VI en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

777453017 Persistent hyperphenylalaninemia AND tyrosinemia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Persistent hyperphenylalaninaemia AND tyrosinaemia	est un(e) (attribut)	Persistent hyperphenylalaninemia	true	Inferred relationship	Some
Persistent hyperphenylalaninaemia AND tyrosinaemia	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Persistent hyperphenylalaninaemia AND tyrosinaemia	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Persistent hyperphenylalaninaemia AND tyrosinaemia	gravité (attribut)	grave	false	Inferred relationship	Some

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set