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7573000: Classical phenylketonuria (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria
\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninaemia\Phenylketonuria\Classical phenylketonuria
\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninaemia\Phenylketonuria\Classical phenylketonuria
\Metabolic disease\Enzymopathy\Phenylketonuria\Classical phenylketonuria
\Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Hyperphenylalaninaemia\Phenylketonuria\Classical phenylketonuria

\Congenital disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

13500018 Classical phenylketonuria en Synonym Active Case insensitive SNOMED CT core
13501019 Phenylketonuria en Synonym Inactive Case insensitive SNOMED CT core
13502014 Folling's syndrome en Synonym Inactive Case sensitive SNOMED CT core
13503016 Phenylalanine hydroxylase deficiency en Synonym Inactive Case insensitive SNOMED CT core
13504010 PAH deficiency en Synonym Inactive Case sensitive SNOMED CT core
13505011 Imbecilitus phenylpyruvica en Synonym Active Case insensitive SNOMED CT core
13506012 PKU en Synonym Inactive Case sensitive SNOMED CT core
13507015 Hyperphenylalaninemia, type I en Synonym Active Initial character case insensitive SNOMED CT core
13508013 Oligophrenia phenylpyruvica en Synonym Inactive Case insensitive SNOMED CT core
13509017 Phenylketonuria, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
503103011 PKU - Phenylketonuria en Synonym Inactive Case sensitive SNOMED CT core
503104017 Phenylpyruvic oligophrenia en Synonym Inactive Case insensitive SNOMED CT core
503105016 Severe phenylalanine hydroxylase deficiency en Synonym Active Case insensitive SNOMED CT core
503106015 PKU1 - Phenylketonuria en Synonym Inactive Case sensitive SNOMED CT core
503107012 PAH - Phenylalanine hydroxylase deficiency en Synonym Inactive Case sensitive SNOMED CT core
503108019 Hyperphenylalaninaemia, type I en Synonym Active Initial character case insensitive SNOMED CT core
816372014 Classical phenylketonuria (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Classical phenylketonuria	Is a	Phenylketonuria	true	Inferred relationship	Some
Classical phenylketonuria	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Classical phenylketonuria	Is a	Enzymopathy	false	Inferred relationship	Some
Classical phenylketonuria	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Classical phenylketonuria	Is a	Hyperphenylalaninaemia	false	Inferred relationship	Some
Classical phenylketonuria	Occurrence	Congenital	true	Inferred relationship	Some	1
Classical phenylketonuria	Severity	Severe	false	Inferred relationship	Some
Classical phenylketonuria	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase	Is a	True	Classical phenylketonuria	Inferred relationship	Some
Classical phenylketonuria with total deficiency of phenylalanine hydroxylase	Is a	True	Classical phenylketonuria	Inferred relationship	Some
Persistent hyperphenylalaninaemia	Is a	True	Classical phenylketonuria	Inferred relationship	Some
Suspected phenylketonuria	Associated finding	False	Classical phenylketonuria	Inferred relationship	Some	1
Phenylketonuria not suspected	Associated finding	False	Classical phenylketonuria	Inferred relationship	Some	1
Suspected phenylketonuria	Associated finding	True	Classical phenylketonuria	Inferred relationship	Some	1
Phenylketonuria not suspected	Associated finding	True	Classical phenylketonuria	Inferred relationship	Some	1
Phenylketonuria screening test	Has focus	True	Classical phenylketonuria	Inferred relationship	Some	2
Phenylketonuria screening	Has focus	False	Classical phenylketonuria	Inferred relationship	Some	3
Phenylketonuria diet education	Has focus	True	Classical phenylketonuria	Inferred relationship	Some	2
Phenylalanine-free diet education	Has focus	True	Classical phenylketonuria	Inferred relationship	Some	1
Family history of phenylketonuria	Associated finding	True	Classical phenylketonuria	Inferred relationship	Some	1

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
13500018	Classical phenylketonuria	en	Synonym	Active	Case insensitive	SNOMED CT core
13501019	Phenylketonuria	en	Synonym	Inactive	Case insensitive	SNOMED CT core
13502014	Folling's syndrome	en	Synonym	Inactive	Case sensitive	SNOMED CT core
13503016	Phenylalanine hydroxylase deficiency	en	Synonym	Inactive	Case insensitive	SNOMED CT core
13504010	PAH deficiency	en	Synonym	Inactive	Case sensitive	SNOMED CT core
13505011	Imbecilitus phenylpyruvica	en	Synonym	Active	Case insensitive	SNOMED CT core
13506012	PKU	en	Synonym	Inactive	Case sensitive	SNOMED CT core
13507015	Hyperphenylalaninemia, type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
13508013	Oligophrenia phenylpyruvica	en	Synonym	Inactive	Case insensitive	SNOMED CT core
13509017	Phenylketonuria, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
503103011	PKU - Phenylketonuria	en	Synonym	Inactive	Case sensitive	SNOMED CT core
503104017	Phenylpyruvic oligophrenia	en	Synonym	Inactive	Case insensitive	SNOMED CT core
503105016	Severe phenylalanine hydroxylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
503106015	PKU1 - Phenylketonuria	en	Synonym	Inactive	Case sensitive	SNOMED CT core
503107012	PAH - Phenylalanine hydroxylase deficiency	en	Synonym	Inactive	Case sensitive	SNOMED CT core
503108019	Hyperphenylalaninaemia, type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
816372014	Classical phenylketonuria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core