1003938005: Phenylketonuria due to tetrahydrobiopterin deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Phenylketonuria due to tetrahydrobiopterin deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria\Phenylketonuria due to tetrahydrobiopterin deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\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\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\Phenylketonuria due to tetrahydrobiopterin deficiency
\Metabolic disease\Enzymopathy\Phenylketonuria\Phenylketonuria due to tetrahydrobiopterin deficiency
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria\Phenylketonuria due to tetrahydrobiopterin deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Phenylketonuria\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

14508191000172111 phénylcétonurie par déficit en tétrahydrobioptérine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4157041000172117 fenylketonurie door deficiëntie van tetrahydrobiopterine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4157051000172115 PKU door BH4-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian 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	false	Inferred relationship	Some
Phenylketonuria due to tetrahydrobiopterin deficiency	Is a	Hyperphenylalaninemia	false	Inferred relationship	Some
Phenylketonuria due to tetrahydrobiopterin deficiency	Due to	Disorder of tetrahydrobiopterin metabolism	true	Inferred relationship	Some	1
Phenylketonuria due to tetrahydrobiopterin deficiency	Is a	Phenylketonuria	true	Inferred relationship	Some
Phenylketonuria due to tetrahydrobiopterin deficiency	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for neonatology in patient health records