890435004: klassieke fenylketonurie met partiële deficiëntie van fenylalaninehydroxylase (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder)
\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\Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder)
\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\Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder)
\Metabolic disease\Enzymopathy\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder)
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4029832018 Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4029833011 Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

12110711000146110 klassieke fenylketonurie met partiële deficiëntie van fenylalaninehydroxylase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12110721000146117 klassieke PKU met gedeeltelijke deficiëntie van fenylalaninehydroxylase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12110731000146115 klassieke fenylketonurie met partiële deficiëntie van fenylalaninehydroxylase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder)	Is a	Classical phenylketonuria	true	Inferred relationship	Some
Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set