7573000: Classical phenylketonuria (disorder)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Phenylketonuria (disorder)\Classical phenylketonuria

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria (disorder)\Classical phenylketonuria

\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
\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
\trouble métabolique\Inborn error of metabolism\Phenylketonuria (disorder)\Classical phenylketonuria
\trouble métabolique\Enzymopathy\Phenylketonuria (disorder)\Classical phenylketonuria
\trouble métabolique\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperphenylalaninemia\Phenylketonuria (disorder)\Classical phenylketonuria

\Congenital disease\Inborn error of metabolism\Phenylketonuria (disorder)\Classical phenylketonuria

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Classical phenylketonuria	est un(e) (attribut)	Phenylketonuria (disorder)	true	Inferred relationship	Some
Classical phenylketonuria	est un(e) (attribut)	Inborn error of metabolism	false	Inferred relationship	Some
Classical phenylketonuria	est un(e) (attribut)	Enzymopathy	false	Inferred relationship	Some
Classical phenylketonuria	est un(e) (attribut)	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Classical phenylketonuria	est un(e) (attribut)	Hyperphenylalaninemia	false	Inferred relationship	Some
Classical phenylketonuria	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Classical phenylketonuria	gravité (attribut)	grave	false	Inferred relationship	Some
Classical phenylketonuria	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder)	est un(e) (attribut)	True	Classical phenylketonuria	Inferred relationship	Some
Classical phenylketonuria with total deficiency of phenylalanine hydroxylase	est un(e) (attribut)	True	Classical phenylketonuria	Inferred relationship	Some
Persistent hyperphenylalaninemia	est un(e) (attribut)	True	Classical phenylketonuria	Inferred relationship	Some
Suspected phenylketonuria (situation)	constatation associée (attribut)	False	Classical phenylketonuria	Inferred relationship	Some	1
phénylcétonurie non soupçonnée	constatation associée (attribut)	False	Classical phenylketonuria	Inferred relationship	Some	1
Suspected phenylketonuria (situation)	constatation associée (attribut)	True	Classical phenylketonuria	Inferred relationship	Some	1
phénylcétonurie non soupçonnée	constatation associée (attribut)	True	Classical phenylketonuria	Inferred relationship	Some	1
Phenylketonuria screening test	a pour objet (attribut)	True	Classical phenylketonuria	Inferred relationship	Some	2
Phenylketonuria screening	a pour objet (attribut)	False	Classical phenylketonuria	Inferred relationship	Some	3
Phenylketonuria diet education (procedure)	a pour objet (attribut)	True	Classical phenylketonuria	Inferred relationship	Some	2
Phenylalanine-free diet education (procedure)	a pour objet (attribut)	True	Classical phenylketonuria	Inferred relationship	Some	1
Family history of phenylketonuria	constatation associée (attribut)	True	Classical phenylketonuria	Inferred relationship	Some	1

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
13500018	Classical phenylketonuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13501019	Phenylketonuria	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
13502014	Folling's syndrome	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
13503016	Phenylalanine hydroxylase deficiency	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
13504010	PAH deficiency	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
13505011	Imbecilitus phenylpyruvica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13506012	PKU	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
13507015	Hyperphenylalaninemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13508013	Oligophrenia phenylpyruvica	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
13509017	Phenylketonuria, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
186131000172113	phénylcétonurie classique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3395624018	Phénylcétonurie classique	fr	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
390111000241115	phénylcétonurie classique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
503103011	PKU - Phenylketonuria	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
503104017	Phenylpyruvic oligophrenia	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
503105016	Severe phenylalanine hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503106015	PKU1 - Phenylketonuria	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
503107012	PAH - Phenylalanine hydroxylase deficiency	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
503108019	Hyperphenylalaninaemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
816372014	Classical phenylketonuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core