7573000: Classical phenylketonuria (disorder)

SNOMED CT Concept\Clinical finding (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 (disorder)\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria

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

13500018 Classical phenylketonuria en Synonym (core metadata concept) Active Entire term case insensitive (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

13507015 Hyperphenylalaninemia, type I en Synonym (core metadata concept) Active Only initial character 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

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

789681000052111 klassisk fenylketonuri sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	Hyperphenylalaninemia	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
Classical phenylketonuria	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Classical phenylketonuria	Is a	Phenylketonuria	true	Inferred relationship	Some

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

This concept is not in any reference sets