1003938005: Phenylketonuria due to tetrahydrobiopterin deficiency (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria due to tetrahydrobiopterin deficiency

\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria due to tetrahydrobiopterin deficiency
\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 due to tetrahydrobiopterin deficiency
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria due to tetrahydrobiopterin deficiency

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

4167012011 Phenylketonuria due to BH4 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4167014012 Phenylketonuria due to tetrahydrobiopterin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4167524012 Phenylketonuria due to tetrahydrobiopterin deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4820511000052114 fenylketonuri orsakad av brist på tetrahydrobiopterin 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
Phenylketonuria due to tetrahydrobiopterin deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Phenylketonuria due to tetrahydrobiopterin deficiency	Is a	Hyperphenylalaninemia	true	Inferred relationship	Some
Phenylketonuria due to tetrahydrobiopterin deficiency	Due to	Disorder of tetrahydrobiopterin metabolism	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets