410056006: tyrosinémie type 1 (trouble)

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

\Genetic disease\maladie héréditaire\...

\syndrome familial avec prédisposition aux cancers (trouble)\Tyrosinemia type I (disorder)

\Hereditary hypertyrosinemia\Tyrosinemia type I (disorder)

\trouble métabolique\manifestation clinique d'un déficit enzymatique\Tyrosinemia type I (disorder)
\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinemia\Tyrosinemia type I (disorder)
\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\Tyrosinemia type I (disorder)
\trouble métabolique\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinemia\Tyrosinemia type I (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2465507011 Tyrosinemia type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2469188016 Tyrosinaemia type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2469662018 Tyrosinemia type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

642881000241118 tyrosinémie type 1 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

923251000172112 déficit en FAH (fumarylacetoacetate hydrolase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

976931000172117 tyrosinémie type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tyrosinemia type I (disorder)	est un(e) (attribut)	manifestation clinique d'un déficit enzymatique	true	Inferred relationship	Some
Tyrosinemia type I (disorder)	est un(e) (attribut)	Hereditary hypertyrosinemia	true	Inferred relationship	Some
Tyrosinemia type I (disorder)	Due to	Deficiency of fumarylacetoacetase	true	Inferred relationship	Some	1
Tyrosinemia type I (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Tyrosinemia type I (disorder)	est un(e) (attribut)	syndrome familial avec prédisposition aux cancers (trouble)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

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Group

This concept is not in any reference sets