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237913008: Disorder of tetrahydrobiopterin metabolism (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
356571014 Disorder of tetrahydrobiopterin metabolism en Synonym Active Entire term case insensitive SNOMED CT core module
626712018 Disorder of tetrahydrobiopterin metabolism (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


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 Existential restriction modifier
Disorder of tetrahydrobiopterin metabolism Occurrence Congenital false Inferred relationship Existential restriction modifier
Disorder of tetrahydrobiopterin metabolism Finding site Body system structure false Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Guanosine triphosphate cyclohydrolase I deficiency Is a False Disorder of tetrahydrobiopterin metabolism Inferred relationship Existential restriction modifier
Sepiapterin reductase deficiency Is a True Disorder of tetrahydrobiopterin metabolism Inferred relationship Existential restriction modifier
Dihydropteridine reductase deficiency Is a False Disorder of tetrahydrobiopterin metabolism Inferred relationship Existential restriction modifier
Tetrahydrobiopterin synthesis defect Is a True Disorder of tetrahydrobiopterin metabolism Inferred relationship Existential restriction modifier
Phenylketonuria due to tetrahydrobiopterin deficiency Due to True Disorder of tetrahydrobiopterin metabolism Inferred relationship Existential restriction modifier 1

This concept is not in any reference sets

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