190687004: Phenylketonuria (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperphenylalaninemia\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
\Metabolic disease\Enzymopathy\Phenylketonuria
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria

\Congenital disease\Inborn error of metabolism\Phenylketonuria

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Jun 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

293081015 Phenylketonuria en Synonym Active Entire term case insensitive SNOMED CT core module
574300019 Phenylketonuria en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
2760235015 Phenylketonuria (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
5067029016 PKU - phenylketonuria en Synonym Active Entire term case sensitive SNOMED CT core module
5067030014 PAH (phenylalanine hydroxylase) deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
5067031013 Phenylalanine hydroxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
5067032018 Folling disease en Synonym Active Entire term case sensitive SNOMED CT core module
5067033011 Oligophrenia phenylpyruvica en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Phenylketonuria	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier
Phenylketonuria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Phenylketonuria	Is a	Hyperphenylalaninemia	true	Inferred relationship	Existential restriction modifier
Phenylketonuria	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier
Phenylketonuria	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Classical phenylketonuria	Is a	True	Phenylketonuria	Inferred relationship	Existential restriction modifier
Phenylketonuria due to tetrahydrobiopterin deficiency	Is a	True	Phenylketonuria	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets