7573000: Classical phenylketonuria (disorder)

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

\Genetic disease\Hereditary disease\...

\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria

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

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria

\Metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria
\Metabolic disease\Enzymopathy\Phenylketonuria\Classical phenylketonuria
\Metabolic disease\Disorder of acid-base balance\Phenylketonuria\Classical phenylketonuria

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

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

13505011 Imbecilitus phenylpyruvica en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

13507015 Hyperphenylalaninemia, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) IPS terminology module (core metadata concept)

503105016 Severe phenylalanine hydroxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

503108019 Hyperphenylalaninaemia, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) IPS terminology module (core metadata concept)

816372014 Classical phenylketonuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Classical phenylketonuria	Is a	Phenylketonuria	true	Inferred relationship	Some
Classical phenylketonuria	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary