440009: Persistent hyperphenylalaninemia (disorder)

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

\Genetic disease\Hereditary disease\...

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

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia
\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\Persistent hyperphenylalaninemia
\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\Persistent hyperphenylalaninemia
\Metabolic disease\Enzymopathy\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia

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

1815015 Persistent hyperphenylalaninemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1816019 Essential hyperphenylalaninemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1817011 Hyperphenylalaninemia, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

493753017 Persistent hyperphenylalaninaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

493754011 Essential hyperphenylalaninaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

493755012 Hyperphenylalaninaemia, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

781079017 Persistent hyperphenylalaninemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Persistent hyperphenylalaninemia	Is a	Classical phenylketonuria	true	Inferred relationship	Some
Persistent hyperphenylalaninemia	Occurrence	Congenital	true	Inferred relationship	Some	1
Persistent hyperphenylalaninemia	Finding site	Body system structure	false	Inferred relationship	Some
Persistent hyperphenylalaninemia	Severity	Severe	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Persistent hyperphenylalaninemia AND tyrosinemia	Is a	True	Persistent hyperphenylalaninemia	Inferred relationship	Some

Reference Sets