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237925006: Tryptophanemia (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
356593016 Tryptophanemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
356594010 Tryptophanaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626727018 Tryptophanemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4453341000005110 hypertryptophanæmi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Tryptophanaemia Is a Disorder of tryptophan metabolism true Inferred relationship Some
Tryptophanaemia Occurrence Congenital false Inferred relationship Some
Tryptophanaemia Finding site Body system structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association. Is a True Tryptophanaemia Inferred relationship Some

This concept is not in any reference sets

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