68528007: hyperfenylalaninemie (aandoening)

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

\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\...

\Aminoacidemia\Hyperphenylalaninemia

\Disorder of phenylalanine metabolism\Hyperphenylalaninemia

\Disorder of acid-base balance\Acidemia\Aminoacidemia\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

113815013 Hyperphenylalaninemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
113816014 Hyperphenylalaninemia, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
501041011 Hyperphenylalaninaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
808373019 Hyperphenylalaninemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
85951000146114 hyperfenylalaninemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
939771000146117 hyperfenylalaninemie (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
Hyperphenylalaninemia	Is a	Disorder of phenylalanine metabolism	true	Inferred relationship	Some
Hyperphenylalaninemia	Is a	Aminoacidemia	true	Inferred relationship	Some
Hyperphenylalaninemia	Occurrence	Congenital	false	Inferred relationship	Some
Hyperphenylalaninemia	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
GTP cyclohydrolase I deficiency	Is a	False	Hyperphenylalaninemia	Inferred relationship	Some
Transient hyperphenylalaninaemia	Is a	True	Hyperphenylalaninemia	Inferred relationship	Some
Sepiapterin reductase deficiency	Is a	True	Hyperphenylalaninemia	Inferred relationship	Some
Dihydropteridine reductase deficiency	Is a	False	Hyperphenylalaninemia	Inferred relationship	Some
Tetrahydrobiopterin synthesis defect	Is a	True	Hyperphenylalaninemia	Inferred relationship	Some
Classical phenylketonuria	Is a	False	Hyperphenylalaninemia	Inferred relationship	Some
fenylketonurie door deficiëntie van tetrahydrobiopterine	Is a	False	Hyperphenylalaninemia	Inferred relationship	Some
Hyperphenylalanineaemia due to DNAJC12 deficiency	Is a	True	Hyperphenylalaninemia	Inferred relationship	Some
Phenylketonuria	Is a	True	Hyperphenylalaninemia	Inferred relationship	Some

This concept is not in any reference sets