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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\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria
\Metabolic disease\Enzymopathy\Phenylketonuria\Classical phenylketonuria
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria

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

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

Descriptions:

Id Description Lang Type Status Case? Module

13500018 Classical phenylketonuria en Synonym Active Entire term case insensitive SNOMED CT core module

13505011 Imbecilitus phenylpyruvica en Synonym Active Entire term case insensitive SNOMED CT core module

13507015 Hyperphenylalaninemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module

503105016 Severe phenylalanine hydroxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

503108019 Hyperphenylalaninaemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module

816372014 Classical phenylketonuria (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
13500018	Classical phenylketonuria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
13505011	Imbecilitus phenylpyruvica	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
13507015	Hyperphenylalaninemia, type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
503105016	Severe phenylalanine hydroxylase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
503108019	Hyperphenylalaninaemia, type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
816372014	Classical phenylketonuria (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module