1003938005: fenylketonurie door deficiëntie van tetrahydrobiopterine (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. 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

12130041000146116 fenylketonurie door deficiëntie van tetrahydrobiopterine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12130051000146118 fenylketonurie door deficiëntie van tetrahydrobiopterine (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12130061000146115 PKU door BH4-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
fenylketonurie door deficiëntie van tetrahydrobiopterine	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
fenylketonurie door deficiëntie van tetrahydrobiopterine	Is a	Hyperphenylalaninemia	false	Inferred relationship	Some
fenylketonurie door deficiëntie van tetrahydrobiopterine	Due to	Disorder of tetrahydrobiopterin metabolism	false	Inferred relationship	Some	1
fenylketonurie door deficiëntie van tetrahydrobiopterine	Is a	Phenylketonuria	false	Inferred relationship	Some
fenylketonurie door deficiëntie van tetrahydrobiopterine	Occurrence	Congenital	false	Inferred relationship	Some	2
fenylketonurie door deficiëntie van tetrahydrobiopterine	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)