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237913008: Disorder of tetrahydrobiopterin metabolism (disorder)


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


6 descendants. Search Descendants:

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
Phenylketonuria due to tetrahydrobiopterin deficiency Due to False Disorder of tetrahydrobiopterin metabolism Inferred relationship Some 1

This concept is not in any reference sets

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