52452006: Fumarylacetoacetase deficiency, chronic type (disorder)

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

\Genetic disease\maladie héréditaire\Hereditary hypertyrosinemia\Fumarylacetoacetase deficiency, chronic type (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\Fumarylacetoacetase deficiency, chronic type (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)\Tyrosinosis (disorder)\Fumarylacetoacetase deficiency, chronic type (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\Fumarylacetoacetase deficiency, chronic type (disorder)
\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of fumarylacetoacetase\Fumarylacetoacetase deficiency, chronic type (disorder)
\trouble métabolique\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinemia\Fumarylacetoacetase deficiency, chronic type (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

496320017 Tyrosinaemia with hepatorenal dysfunction en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

790463017 Fumarylacetoacetase deficiency, chronic type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

87281014 Fumarylacetoacetase deficiency, chronic type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

87283012 Chronic tyrosinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

87284018 Tyrosinemia with hepatorenal dysfunction en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fumarylacetoacetase deficiency, chronic type (disorder)	est un(e) (attribut)	Tyrosinemia type I	false	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type (disorder)	est un(e) (attribut)	Tyrosinosis (disorder)	true	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type (disorder)	est un(e) (attribut)	Deficiency of fumarylacetoacetase	true	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type (disorder)	est un(e) (attribut)	Hereditary hypertyrosinemia	true	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)