271847005: Hereditary hypertyrosinemia (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Hereditary hypertyrosinemia

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinemia
\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism (disorder)\Hypertyrosinaemia\Hereditary hypertyrosinemia
\trouble métabolique\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

406832013 Tyrosinaemia-tyrosiluria hereditary syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

406833015 Hereditary hypertyrosinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

406834014 Hereditary hypertyrosinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

406835010 Tyrosinemia-tyrosiluria hereditary syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4554512018 Hereditary tyrosinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4554513011 Hereditary tyrosinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

664301017 Hereditary hypertyrosinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hypertyrosinemia	est un(e) (attribut)	maladie héréditaire	true	Inferred relationship	Some
Hereditary hypertyrosinemia	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Hereditary hypertyrosinemia	survenue (attribut)	congénital	false	Inferred relationship	Some
Hereditary hypertyrosinemia	est un(e) (attribut)	Hypertyrosinaemia	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Tyrosinaemia type 2	est un(e) (attribut)	True	Hereditary hypertyrosinemia	Inferred relationship	Some
Tyrosinemia type I (disorder)	est un(e) (attribut)	True	Hereditary hypertyrosinemia	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type (disorder)	est un(e) (attribut)	True	Hereditary hypertyrosinemia	Inferred relationship	Some
Tyrosinemia type I	est un(e) (attribut)	False	Hereditary hypertyrosinemia	Inferred relationship	Some

This concept is not in any reference sets