237913008: stoornis van metabolisme van tetrahydrobiopterine (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\Disorder of phenylalanine metabolism\Disorder of tetrahydrobiopterin metabolism

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

356571014 Disorder of tetrahydrobiopterin metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626712018 Disorder of tetrahydrobiopterin metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6904111000146118 stofwisselingsstoornis van tetrahydrobiopterine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7987501000146118 stoornis van metabolisme van tetrahydrobiopterine (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8034851000146119 stoornis van metabolisme van tetrahydrobiopterine nl Synonym (core metadata concept) 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
Disorder of tetrahydrobiopterin metabolism	Is a	Disorder of phenylalanine metabolism	true	Inferred relationship	Some
Disorder of tetrahydrobiopterin metabolism	Occurrence	Congenital	false	Inferred relationship	Some
Disorder of tetrahydrobiopterin metabolism	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
GTP cyclohydrolase I deficiency	Is a	False	Disorder of tetrahydrobiopterin metabolism	Inferred relationship	Some
Sepiapterin reductase deficiency	Is a	True	Disorder of tetrahydrobiopterin metabolism	Inferred relationship	Some
Dihydropteridine reductase deficiency	Is a	False	Disorder of tetrahydrobiopterin metabolism	Inferred relationship	Some
Tetrahydrobiopterin synthesis defect	Is a	True	Disorder of tetrahydrobiopterin metabolism	Inferred relationship	Some
fenylketonurie door deficiëntie van tetrahydrobiopterine	Due to	False	Disorder of tetrahydrobiopterin metabolism	Inferred relationship	Some	1

This concept is not in any reference sets