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68528007: Hyperphenylalaninemia (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
113815013 Hyperphenylalaninemia en Synonym Active Entire term case insensitive SNOMED CT core module
113816014 Hyperphenylalaninemia, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
501041011 Hyperphenylalaninaemia en Synonym Active Entire term case insensitive SNOMED CT core module
808373019 Hyperphenylalaninemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

15 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hyperphenylalaninemia Is a Disorder of phenylalanine metabolism true Inferred relationship Existential restriction modifier
Hyperphenylalaninemia Is a Aminoacidemia true Inferred relationship Existential restriction modifier
Hyperphenylalaninemia Occurrence Congenital false Inferred relationship Existential restriction modifier
Hyperphenylalaninemia 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 Hyperphenylalaninemia Inferred relationship Existential restriction modifier
Transient hyperphenylalaninemia Is a True Hyperphenylalaninemia Inferred relationship Existential restriction modifier
Sepiapterin reductase deficiency Is a True Hyperphenylalaninemia Inferred relationship Existential restriction modifier
Dihydropteridine reductase deficiency Is a False Hyperphenylalaninemia Inferred relationship Existential restriction modifier
Tetrahydrobiopterin synthesis defect Is a True Hyperphenylalaninemia Inferred relationship Existential restriction modifier
Classical phenylketonuria Is a False Hyperphenylalaninemia Inferred relationship Existential restriction modifier
Phenylketonuria due to tetrahydrobiopterin deficiency Is a False Hyperphenylalaninemia Inferred relationship Existential restriction modifier
Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency Is a True Hyperphenylalaninemia Inferred relationship Existential restriction modifier
Phenylketonuria Is a True Hyperphenylalaninemia Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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